Evidence of association with type 1 diabetes in the SLC11A1 gene region View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-12

AUTHORS

Jennie HM Yang, Kate Downes, Joanna MM Howson, Sarah Nutland, Helen E Stevens, Neil M Walker, John A Todd

ABSTRACT

BACKGROUND: Linkage and congenic strain analyses using the nonobese diabetic (NOD) mouse as a model for human type 1 autoimmune diabetes (T1D) have identified several NOD mouse Idd (insulin dependent diabetes) loci, including Slc11a1 (formerly known as Nramp1). Genetic variants in the orthologous region encompassing SLC11A1 in human chromosome 2q35 have been reported to be associated with various immune-related diseases including T1D. Here, we have conducted association analysis of this candidate gene region, and then investigated potential correlations between the most T1D-associated variant and RNA expression of the SLC11A1 gene and its splice isoform. METHODS: Nine SNPs (rs2276631, rs2279015, rs1809231, rs1059823, rs17235409 (D543N), rs17235416 (3'UTR), rs3731865 (INT4), rs7573065 (-237 C → T) and rs4674297) were genotyped using TaqMan genotyping assays and the polymorphic promoter microsatellite (GT)n was genotyped using PCR and fragment length analysis. A maximum of 8,863 T1D British cases and 10,841 British controls, all of white European descent, were used to test association using logistic regression. A maximum of 5,696 T1D families were also tested for association using the transmission/disequilibrium test (TDT). We considered P ≤ 0.005 as evidence of association given that we tested nine variants in total. Upon identification of the most T1D-associated variant, we investigated the correlation between its genotype and SLC11A1 expression overall or with splice isoform ratio using 42 PAXgene whole blood samples from healthy donors by quantitative PCR (qPCR). RESULTS: Using the case-control collection, rs3731865 (INT4) was identified to be the variant most associated with T1D (P = 1.55 × 10-6). There was also some evidence of association at rs4674297 (P = 1.57 × 10-4). No evidence of disease association was obtained at any of the loci using the family collections (PTDT ≥ 0.13). We also did not observe a correlation between rs3731865 genotypes and SLC11A1 expression overall or with splice isoform expression. CONCLUSION: We conclude that rs3731685 (INT4) in the SLC11A1 gene may be associated with T1D susceptibility in the European ancestry population studied. We did not observe a difference in SLC11A1 expression at the RNA level based on the genotypes of rs3731865 in whole blood samples. However, a potential correlation cannot be ruled out in purified cell subsets especially monocytes or macrophages. More... »

PAGES

59

References to SciGraph publications

  • 1995-01. Genomic Organization and Sequence of the Human NRAMP Gene: Identification and Mapping of a Promoter Region Polymorphism in MOLECULAR MEDICINE
  • 2009-05. Genetic susceptibility to Behçet’s syndrome is associated with NRAMP1 (SLC11A1) polymorphism in Turkish patients in RHEUMATOLOGY INTERNATIONAL
  • 2006-04. In vivo RNA interference demonstrates a role for Nramp1 in modifying susceptibility to type 1 diabetes in NATURE GENETICS
  • 2008-03. 1000 Genomes project in NATURE BIOTECHNOLOGY
  • 2007-07. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes in NATURE GENETICS
  • 2010-12. CXCR1 and SLC11A1polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study in BMC MEDICAL GENETICS
  • 2008-11. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility in NATURE GENETICS
  • 2005-12. Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes in BMC GENETICS
  • 2008-02. Genome-wide analysis of transcript isoform variation in humans in NATURE GENETICS
  • 2005-11. Population structure, differential bias and genomic control in a large-scale, case-control association study in NATURE GENETICS
  • 2007-06-07. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls in NATURE
  • 2009-06. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes in NATURE GENETICS
  • 2006-06. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region in NATURE GENETICS
  • 2006-07. The −237C→T promoter polymorphism of the SLC11A1 gene is associated with a protective effect in relation to inflammatory bowel disease in the South African population in INTERNATIONAL JOURNAL OF COLORECTAL DISEASE
  • 2005-02. Genome-wide association studies: theoretical and practical concerns in NATURE REVIEWS GENETICS
  • 2004-01. SLC11A1 (formerly NRAMP1) and susceptibility to visceral leishmaniasis in The Sudan in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-11. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus in NATURE GENETICS
  • 2010-09. A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk in NATURE
  • 2002-07. Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes in IMMUNOGENETICS
  • 2008-12. Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci in NATURE GENETICS
  • 2011-01. Immunopathology of the human pancreas in type-I diabetes in SEMINARS IN IMMUNOPATHOLOGY
  • 2006-02. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/1471-2350-12-59

    DOI

    http://dx.doi.org/10.1186/1471-2350-12-59

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1031670561

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21524304


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Animals", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cation Transport Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Diabetes Mellitus, Type 1", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Disease Models, Animal", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome-Wide Association Study", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mice", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mice, Inbred NOD", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymerase Chain Reaction", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymorphism, Single Nucleotide", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "University of Cambridge", 
              "id": "https://www.grid.ac/institutes/grid.5335.0", 
              "name": [
                "Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, CB2 0XY, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Yang", 
            "givenName": "Jennie HM", 
            "id": "sg:person.013544602104.23", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013544602104.23"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Cambridge", 
              "id": "https://www.grid.ac/institutes/grid.5335.0", 
              "name": [
                "Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, CB2 0XY, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Downes", 
            "givenName": "Kate", 
            "id": "sg:person.01071110743.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071110743.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Cambridge", 
              "id": "https://www.grid.ac/institutes/grid.5335.0", 
              "name": [
                "Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, CB2 0XY, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Howson", 
            "givenName": "Joanna MM", 
            "id": "sg:person.07773763167.28", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07773763167.28"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Cambridge", 
              "id": "https://www.grid.ac/institutes/grid.5335.0", 
              "name": [
                "Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, CB2 0XY, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nutland", 
            "givenName": "Sarah", 
            "id": "sg:person.01007752726.79", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01007752726.79"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Cambridge", 
              "id": "https://www.grid.ac/institutes/grid.5335.0", 
              "name": [
                "Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, CB2 0XY, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stevens", 
            "givenName": "Helen E", 
            "id": "sg:person.0576262171.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0576262171.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Cambridge", 
              "id": "https://www.grid.ac/institutes/grid.5335.0", 
              "name": [
                "Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, CB2 0XY, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Walker", 
            "givenName": "Neil M", 
            "id": "sg:person.01257156522.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257156522.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Cambridge", 
              "id": "https://www.grid.ac/institutes/grid.5335.0", 
              "name": [
                "Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, CB2 0XY, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Todd", 
            "givenName": "John A", 
            "id": "sg:person.01134314703.76", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134314703.76"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng.468", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000425285", 
              "https://doi.org/10.1038/ng.468"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.221", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000435695", 
              "https://doi.org/10.1038/ng.221"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.249", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003424220", 
              "https://doi.org/10.1038/ng.249"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ibd.20425", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003646515"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ibd.20425", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003646515"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ibd.20425", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003646515"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.bcmd.2004.04.003", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004061771"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature05911", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004556449", 
              "https://doi.org/10.1038/nature05911"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.metabol.2004.12.006", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004785297"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2156-6-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005026094", 
              "https://doi.org/10.1186/1471-2156-6-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/art.20772", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007743626"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1706", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009205998", 
              "https://doi.org/10.1038/ng1706"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1706", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009205998", 
              "https://doi.org/10.1038/ng1706"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg1522", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011092335", 
              "https://doi.org/10.1038/nrg1522"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg1522", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011092335", 
              "https://doi.org/10.1038/nrg1522"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2350-11-10", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012093417", 
              "https://doi.org/10.1186/1471-2350-11-10"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1766", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013947213", 
              "https://doi.org/10.1038/ng1766"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1766", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013947213", 
              "https://doi.org/10.1038/ng1766"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/1357-4310(96)88773-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015579916"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1034/j.1399-0039.2001.580606.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017024489"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0039-6060(97)90006-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018831658"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.2337/diabetes.49.10.1744", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020042885"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejm199803053381002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022364533"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0140-6736(09)60568-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022836597"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00296-008-0763-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023932998", 
              "https://doi.org/10.1007/s00296-008-0763-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00296-008-0763-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023932998", 
              "https://doi.org/10.1007/s00296-008-0763-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/eji.200838449", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024013937"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.2337/db07-1608", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024903884"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1744-313x.2008.00814.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025243339"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1165/ajrcmb.22.6.3745", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025460121"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00384-005-0019-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025580708", 
              "https://doi.org/10.1007/s00384-005-0019-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1046/j.1469-1809.2000.6460507.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026328978"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.immuni.2010.04.001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026794471"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/345878", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028469826"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0007109", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028544252"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1006/bcmd.2000.0349", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029211465"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00281-010-0205-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029876064", 
              "https://doi.org/10.1007/s00281-010-0205-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cancergencyto.2004.09.017", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031051336"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1365-2249.2008.03860.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034956180"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1034/j.1399-0039.2000.550107.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036101897"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1084/jem.180.5.1741", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037903095"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0010693", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039812442"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/1529-0131(200006)43:6<1397::aid-anr25>3.0.co;2-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040497052"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1034/j.1399-0004.2000.580113.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041035652"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s1286-4579(00)00295-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042273864"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5201089", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043157332", 
              "https://doi.org/10.1038/sj.ejhg.5201089"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5201089", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043157332", 
              "https://doi.org/10.1038/sj.ejhg.5201089"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2007.57", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043566648", 
              "https://doi.org/10.1038/ng.2007.57"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt0308-256b", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045597694", 
              "https://doi.org/10.1038/nbt0308-256b"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ibd.20488", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047284185"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ibd.20488", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047284185"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.meegid.2006.01.002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048000530"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng2068", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049634155", 
              "https://doi.org/10.1038/ng2068"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3346/jkms.2000.15.1.83", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050276793"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1653", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050281556", 
              "https://doi.org/10.1038/ng1653"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1653", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050281556", 
              "https://doi.org/10.1038/ng1653"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1653", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050281556", 
              "https://doi.org/10.1038/ng1653"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00251-002-0459-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050954195", 
              "https://doi.org/10.1007/s00251-002-0459-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1800", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051266156", 
              "https://doi.org/10.1038/ng1800"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1800", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051266156", 
              "https://doi.org/10.1038/ng1800"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09386", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052043691", 
              "https://doi.org/10.1038/nature09386"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09386", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052043691", 
              "https://doi.org/10.1038/nature09386"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.381", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052626361", 
              "https://doi.org/10.1038/ng.381"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.381", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052626361", 
              "https://doi.org/10.1038/ng.381"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.33.8.672", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052670763"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/302334", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058609912"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/303012", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058610558"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/338007", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058637652"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.2337/diabetes.47.11.1797", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1070743734"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1074367227", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.36.4.295", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1074367227"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.4049/jimmunol.173.1.164", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1076855496"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1077187195", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1077951722", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1082810345", 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf03401567", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1082846108", 
              "https://doi.org/10.1007/bf03401567"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2011-12", 
        "datePublishedReg": "2011-12-01", 
        "description": "BACKGROUND: Linkage and congenic strain analyses using the nonobese diabetic (NOD) mouse as a model for human type 1 autoimmune diabetes (T1D) have identified several NOD mouse Idd (insulin dependent diabetes) loci, including Slc11a1 (formerly known as Nramp1). Genetic variants in the orthologous region encompassing SLC11A1 in human chromosome 2q35 have been reported to be associated with various immune-related diseases including T1D. Here, we have conducted association analysis of this candidate gene region, and then investigated potential correlations between the most T1D-associated variant and RNA expression of the SLC11A1 gene and its splice isoform.\nMETHODS: Nine SNPs (rs2276631, rs2279015, rs1809231, rs1059823, rs17235409 (D543N), rs17235416 (3'UTR), rs3731865 (INT4), rs7573065 (-237 C \u2192 T) and rs4674297) were genotyped using TaqMan genotyping assays and the polymorphic promoter microsatellite (GT)n was genotyped using PCR and fragment length analysis. A maximum of 8,863 T1D British cases and 10,841 British controls, all of white European descent, were used to test association using logistic regression. A maximum of 5,696 T1D families were also tested for association using the transmission/disequilibrium test (TDT). We considered P \u2264 0.005 as evidence of association given that we tested nine variants in total. Upon identification of the most T1D-associated variant, we investigated the correlation between its genotype and SLC11A1 expression overall or with splice isoform ratio using 42 PAXgene whole blood samples from healthy donors by quantitative PCR (qPCR).\nRESULTS: Using the case-control collection, rs3731865 (INT4) was identified to be the variant most associated with T1D (P = 1.55 \u00d7 10-6). There was also some evidence of association at rs4674297 (P = 1.57 \u00d7 10-4). No evidence of disease association was obtained at any of the loci using the family collections (PTDT \u2265 0.13). We also did not observe a correlation between rs3731865 genotypes and SLC11A1 expression overall or with splice isoform expression.\nCONCLUSION: We conclude that rs3731685 (INT4) in the SLC11A1 gene may be associated with T1D susceptibility in the European ancestry population studied. We did not observe a difference in SLC11A1 expression at the RNA level based on the genotypes of rs3731865 in whole blood samples. However, a potential correlation cannot be ruled out in purified cell subsets especially monocytes or macrophages.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1186/1471-2350-12-59", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.3627984", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3633005", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3635719", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5141446", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2690018", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3635287", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2786745", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1024947", 
            "issn": [
              "1471-2350"
            ], 
            "name": "BMC Medical Genetics", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "12"
          }
        ], 
        "name": "Evidence of association with type 1 diabetes in the SLC11A1 gene region", 
        "pagination": "59", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "96df6ebf653640c8f4cace52205247730ae32bd02636247371656632d63a394d"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "21524304"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "100968552"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1186/1471-2350-12-59"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1031670561"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1186/1471-2350-12-59", 
          "https://app.dimensions.ai/details/publication/pub.1031670561"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-10T20:04", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8681_00000550.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://link.springer.com/10.1186%2F1471-2350-12-59"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/1471-2350-12-59'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1471-2350-12-59'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1471-2350-12-59'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1471-2350-12-59'


     

    This table displays all metadata directly associated to this object as RDF triples.

    371 TRIPLES      21 PREDICATES      102 URIs      31 LITERALS      19 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1186/1471-2350-12-59 schema:about N2e2cb8a1bdbd4fb9b89b88d2147a388c
    2 N2f217f91c3554cc7b5b45cde8f436e50
    3 N3cd121178efa4b77b7a8c4b39ed3d96f
    4 N4bc747cc162a48a3a0e3143a0d184a48
    5 N5d268d03e6bc4e93917e17d76b41bd32
    6 N617c1c92485147868e11a69de1d9f126
    7 N7280916d85e248ad95f575e8bdba175e
    8 N88dfe01822ac4ea7a400776a38f4d10d
    9 Ndf9b793139954970975fe654ed7011fc
    10 Nfe76e2b482e740ee85e6947dfbe2b047
    11 anzsrc-for:06
    12 anzsrc-for:0604
    13 schema:author N7762cc665cb645fe9ae73f7c10f33270
    14 schema:citation sg:pub.10.1007/bf03401567
    15 sg:pub.10.1007/s00251-002-0459-3
    16 sg:pub.10.1007/s00281-010-0205-0
    17 sg:pub.10.1007/s00296-008-0763-9
    18 sg:pub.10.1007/s00384-005-0019-z
    19 sg:pub.10.1038/nature05911
    20 sg:pub.10.1038/nature09386
    21 sg:pub.10.1038/nbt0308-256b
    22 sg:pub.10.1038/ng.2007.57
    23 sg:pub.10.1038/ng.221
    24 sg:pub.10.1038/ng.249
    25 sg:pub.10.1038/ng.381
    26 sg:pub.10.1038/ng.468
    27 sg:pub.10.1038/ng1653
    28 sg:pub.10.1038/ng1706
    29 sg:pub.10.1038/ng1766
    30 sg:pub.10.1038/ng1800
    31 sg:pub.10.1038/ng2068
    32 sg:pub.10.1038/nrg1522
    33 sg:pub.10.1038/sj.ejhg.5201089
    34 sg:pub.10.1186/1471-2156-6-9
    35 sg:pub.10.1186/1471-2350-11-10
    36 https://app.dimensions.ai/details/publication/pub.1074367227
    37 https://app.dimensions.ai/details/publication/pub.1077187195
    38 https://app.dimensions.ai/details/publication/pub.1077951722
    39 https://app.dimensions.ai/details/publication/pub.1082810345
    40 https://doi.org/10.1002/1529-0131(200006)43:6<1397::aid-anr25>3.0.co;2-6
    41 https://doi.org/10.1002/art.20772
    42 https://doi.org/10.1002/eji.200838449
    43 https://doi.org/10.1002/ibd.20425
    44 https://doi.org/10.1002/ibd.20488
    45 https://doi.org/10.1006/bcmd.2000.0349
    46 https://doi.org/10.1016/1357-4310(96)88773-9
    47 https://doi.org/10.1016/j.bcmd.2004.04.003
    48 https://doi.org/10.1016/j.cancergencyto.2004.09.017
    49 https://doi.org/10.1016/j.immuni.2010.04.001
    50 https://doi.org/10.1016/j.meegid.2006.01.002
    51 https://doi.org/10.1016/j.metabol.2004.12.006
    52 https://doi.org/10.1016/s0039-6060(97)90006-4
    53 https://doi.org/10.1016/s0140-6736(09)60568-7
    54 https://doi.org/10.1016/s1286-4579(00)00295-1
    55 https://doi.org/10.1034/j.1399-0004.2000.580113.x
    56 https://doi.org/10.1034/j.1399-0039.2000.550107.x
    57 https://doi.org/10.1034/j.1399-0039.2001.580606.x
    58 https://doi.org/10.1046/j.1469-1809.2000.6460507.x
    59 https://doi.org/10.1056/nejm199803053381002
    60 https://doi.org/10.1084/jem.180.5.1741
    61 https://doi.org/10.1086/302334
    62 https://doi.org/10.1086/303012
    63 https://doi.org/10.1086/338007
    64 https://doi.org/10.1086/345878
    65 https://doi.org/10.1111/j.1365-2249.2008.03860.x
    66 https://doi.org/10.1111/j.1744-313x.2008.00814.x
    67 https://doi.org/10.1136/jmg.33.8.672
    68 https://doi.org/10.1136/jmg.36.4.295
    69 https://doi.org/10.1165/ajrcmb.22.6.3745
    70 https://doi.org/10.1371/journal.pone.0007109
    71 https://doi.org/10.1371/journal.pone.0010693
    72 https://doi.org/10.2337/db07-1608
    73 https://doi.org/10.2337/diabetes.47.11.1797
    74 https://doi.org/10.2337/diabetes.49.10.1744
    75 https://doi.org/10.3346/jkms.2000.15.1.83
    76 https://doi.org/10.4049/jimmunol.173.1.164
    77 schema:datePublished 2011-12
    78 schema:datePublishedReg 2011-12-01
    79 schema:description BACKGROUND: Linkage and congenic strain analyses using the nonobese diabetic (NOD) mouse as a model for human type 1 autoimmune diabetes (T1D) have identified several NOD mouse Idd (insulin dependent diabetes) loci, including Slc11a1 (formerly known as Nramp1). Genetic variants in the orthologous region encompassing SLC11A1 in human chromosome 2q35 have been reported to be associated with various immune-related diseases including T1D. Here, we have conducted association analysis of this candidate gene region, and then investigated potential correlations between the most T1D-associated variant and RNA expression of the SLC11A1 gene and its splice isoform. METHODS: Nine SNPs (rs2276631, rs2279015, rs1809231, rs1059823, rs17235409 (D543N), rs17235416 (3'UTR), rs3731865 (INT4), rs7573065 (-237 C → T) and rs4674297) were genotyped using TaqMan genotyping assays and the polymorphic promoter microsatellite (GT)n was genotyped using PCR and fragment length analysis. A maximum of 8,863 T1D British cases and 10,841 British controls, all of white European descent, were used to test association using logistic regression. A maximum of 5,696 T1D families were also tested for association using the transmission/disequilibrium test (TDT). We considered P ≤ 0.005 as evidence of association given that we tested nine variants in total. Upon identification of the most T1D-associated variant, we investigated the correlation between its genotype and SLC11A1 expression overall or with splice isoform ratio using 42 PAXgene whole blood samples from healthy donors by quantitative PCR (qPCR). RESULTS: Using the case-control collection, rs3731865 (INT4) was identified to be the variant most associated with T1D (P = 1.55 × 10-6). There was also some evidence of association at rs4674297 (P = 1.57 × 10-4). No evidence of disease association was obtained at any of the loci using the family collections (PTDT ≥ 0.13). We also did not observe a correlation between rs3731865 genotypes and SLC11A1 expression overall or with splice isoform expression. CONCLUSION: We conclude that rs3731685 (INT4) in the SLC11A1 gene may be associated with T1D susceptibility in the European ancestry population studied. We did not observe a difference in SLC11A1 expression at the RNA level based on the genotypes of rs3731865 in whole blood samples. However, a potential correlation cannot be ruled out in purified cell subsets especially monocytes or macrophages.
    80 schema:genre research_article
    81 schema:inLanguage en
    82 schema:isAccessibleForFree true
    83 schema:isPartOf N29960fb883eb4b7d984a7b264d4c4ce8
    84 Nc138cb1f4bb44263b35ff9de75f890cd
    85 sg:journal.1024947
    86 schema:name Evidence of association with type 1 diabetes in the SLC11A1 gene region
    87 schema:pagination 59
    88 schema:productId N21848877c06f4a359adac6c6ed153f95
    89 N2f5b332c93bf4c2aaa7b59ac1bfec071
    90 N2f7a636e1ed7495ab24a1e94731a43c6
    91 N44f72bb109f74d09b5805d59aa4c8103
    92 Nbe190b51e7fc4949a8cf4312bdd7ca80
    93 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031670561
    94 https://doi.org/10.1186/1471-2350-12-59
    95 schema:sdDatePublished 2019-04-10T20:04
    96 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    97 schema:sdPublisher N41559a92476743b396fdc497045386cf
    98 schema:url http://link.springer.com/10.1186%2F1471-2350-12-59
    99 sgo:license sg:explorer/license/
    100 sgo:sdDataset articles
    101 rdf:type schema:ScholarlyArticle
    102 N0d48040dd86f4652ac9212938c03c1e5 rdf:first sg:person.0576262171.71
    103 rdf:rest N1f853f8fabf04df9acc1c0fac6f18e8a
    104 N1a8de0f8ff9041d6a8f184dc0a7fabd4 rdf:first sg:person.01134314703.76
    105 rdf:rest rdf:nil
    106 N1f038a3d811543b7b8cec272937cce76 rdf:first sg:person.01007752726.79
    107 rdf:rest N0d48040dd86f4652ac9212938c03c1e5
    108 N1f853f8fabf04df9acc1c0fac6f18e8a rdf:first sg:person.01257156522.04
    109 rdf:rest N1a8de0f8ff9041d6a8f184dc0a7fabd4
    110 N21848877c06f4a359adac6c6ed153f95 schema:name nlm_unique_id
    111 schema:value 100968552
    112 rdf:type schema:PropertyValue
    113 N29960fb883eb4b7d984a7b264d4c4ce8 schema:issueNumber 1
    114 rdf:type schema:PublicationIssue
    115 N2e2cb8a1bdbd4fb9b89b88d2147a388c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    116 schema:name Humans
    117 rdf:type schema:DefinedTerm
    118 N2f217f91c3554cc7b5b45cde8f436e50 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    119 schema:name Polymerase Chain Reaction
    120 rdf:type schema:DefinedTerm
    121 N2f5b332c93bf4c2aaa7b59ac1bfec071 schema:name dimensions_id
    122 schema:value pub.1031670561
    123 rdf:type schema:PropertyValue
    124 N2f7a636e1ed7495ab24a1e94731a43c6 schema:name doi
    125 schema:value 10.1186/1471-2350-12-59
    126 rdf:type schema:PropertyValue
    127 N3cd121178efa4b77b7a8c4b39ed3d96f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    128 schema:name Genome-Wide Association Study
    129 rdf:type schema:DefinedTerm
    130 N41559a92476743b396fdc497045386cf schema:name Springer Nature - SN SciGraph project
    131 rdf:type schema:Organization
    132 N44f72bb109f74d09b5805d59aa4c8103 schema:name pubmed_id
    133 schema:value 21524304
    134 rdf:type schema:PropertyValue
    135 N4bc747cc162a48a3a0e3143a0d184a48 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    136 schema:name Cation Transport Proteins
    137 rdf:type schema:DefinedTerm
    138 N5d268d03e6bc4e93917e17d76b41bd32 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    139 schema:name Polymorphism, Single Nucleotide
    140 rdf:type schema:DefinedTerm
    141 N617c1c92485147868e11a69de1d9f126 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    142 schema:name Diabetes Mellitus, Type 1
    143 rdf:type schema:DefinedTerm
    144 N7280916d85e248ad95f575e8bdba175e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    145 schema:name Disease Models, Animal
    146 rdf:type schema:DefinedTerm
    147 N7762cc665cb645fe9ae73f7c10f33270 rdf:first sg:person.013544602104.23
    148 rdf:rest Na242015296f64510b4d5fdd026eb0808
    149 N88dfe01822ac4ea7a400776a38f4d10d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    150 schema:name Mice
    151 rdf:type schema:DefinedTerm
    152 Na242015296f64510b4d5fdd026eb0808 rdf:first sg:person.01071110743.34
    153 rdf:rest Nda65e10db6d24bb784fa4d2fb4fcf1dc
    154 Nbe190b51e7fc4949a8cf4312bdd7ca80 schema:name readcube_id
    155 schema:value 96df6ebf653640c8f4cace52205247730ae32bd02636247371656632d63a394d
    156 rdf:type schema:PropertyValue
    157 Nc138cb1f4bb44263b35ff9de75f890cd schema:volumeNumber 12
    158 rdf:type schema:PublicationVolume
    159 Nda65e10db6d24bb784fa4d2fb4fcf1dc rdf:first sg:person.07773763167.28
    160 rdf:rest N1f038a3d811543b7b8cec272937cce76
    161 Ndf9b793139954970975fe654ed7011fc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    162 schema:name Animals
    163 rdf:type schema:DefinedTerm
    164 Nfe76e2b482e740ee85e6947dfbe2b047 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    165 schema:name Mice, Inbred NOD
    166 rdf:type schema:DefinedTerm
    167 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    168 schema:name Biological Sciences
    169 rdf:type schema:DefinedTerm
    170 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    171 schema:name Genetics
    172 rdf:type schema:DefinedTerm
    173 sg:grant.2690018 http://pending.schema.org/fundedItem sg:pub.10.1186/1471-2350-12-59
    174 rdf:type schema:MonetaryGrant
    175 sg:grant.2786745 http://pending.schema.org/fundedItem sg:pub.10.1186/1471-2350-12-59
    176 rdf:type schema:MonetaryGrant
    177 sg:grant.3627984 http://pending.schema.org/fundedItem sg:pub.10.1186/1471-2350-12-59
    178 rdf:type schema:MonetaryGrant
    179 sg:grant.3633005 http://pending.schema.org/fundedItem sg:pub.10.1186/1471-2350-12-59
    180 rdf:type schema:MonetaryGrant
    181 sg:grant.3635287 http://pending.schema.org/fundedItem sg:pub.10.1186/1471-2350-12-59
    182 rdf:type schema:MonetaryGrant
    183 sg:grant.3635719 http://pending.schema.org/fundedItem sg:pub.10.1186/1471-2350-12-59
    184 rdf:type schema:MonetaryGrant
    185 sg:grant.5141446 http://pending.schema.org/fundedItem sg:pub.10.1186/1471-2350-12-59
    186 rdf:type schema:MonetaryGrant
    187 sg:journal.1024947 schema:issn 1471-2350
    188 schema:name BMC Medical Genetics
    189 rdf:type schema:Periodical
    190 sg:person.01007752726.79 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
    191 schema:familyName Nutland
    192 schema:givenName Sarah
    193 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01007752726.79
    194 rdf:type schema:Person
    195 sg:person.01071110743.34 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
    196 schema:familyName Downes
    197 schema:givenName Kate
    198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071110743.34
    199 rdf:type schema:Person
    200 sg:person.01134314703.76 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
    201 schema:familyName Todd
    202 schema:givenName John A
    203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134314703.76
    204 rdf:type schema:Person
    205 sg:person.01257156522.04 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
    206 schema:familyName Walker
    207 schema:givenName Neil M
    208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257156522.04
    209 rdf:type schema:Person
    210 sg:person.013544602104.23 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
    211 schema:familyName Yang
    212 schema:givenName Jennie HM
    213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013544602104.23
    214 rdf:type schema:Person
    215 sg:person.0576262171.71 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
    216 schema:familyName Stevens
    217 schema:givenName Helen E
    218 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0576262171.71
    219 rdf:type schema:Person
    220 sg:person.07773763167.28 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
    221 schema:familyName Howson
    222 schema:givenName Joanna MM
    223 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07773763167.28
    224 rdf:type schema:Person
    225 sg:pub.10.1007/bf03401567 schema:sameAs https://app.dimensions.ai/details/publication/pub.1082846108
    226 https://doi.org/10.1007/bf03401567
    227 rdf:type schema:CreativeWork
    228 sg:pub.10.1007/s00251-002-0459-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050954195
    229 https://doi.org/10.1007/s00251-002-0459-3
    230 rdf:type schema:CreativeWork
    231 sg:pub.10.1007/s00281-010-0205-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029876064
    232 https://doi.org/10.1007/s00281-010-0205-0
    233 rdf:type schema:CreativeWork
    234 sg:pub.10.1007/s00296-008-0763-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023932998
    235 https://doi.org/10.1007/s00296-008-0763-9
    236 rdf:type schema:CreativeWork
    237 sg:pub.10.1007/s00384-005-0019-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1025580708
    238 https://doi.org/10.1007/s00384-005-0019-z
    239 rdf:type schema:CreativeWork
    240 sg:pub.10.1038/nature05911 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004556449
    241 https://doi.org/10.1038/nature05911
    242 rdf:type schema:CreativeWork
    243 sg:pub.10.1038/nature09386 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052043691
    244 https://doi.org/10.1038/nature09386
    245 rdf:type schema:CreativeWork
    246 sg:pub.10.1038/nbt0308-256b schema:sameAs https://app.dimensions.ai/details/publication/pub.1045597694
    247 https://doi.org/10.1038/nbt0308-256b
    248 rdf:type schema:CreativeWork
    249 sg:pub.10.1038/ng.2007.57 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043566648
    250 https://doi.org/10.1038/ng.2007.57
    251 rdf:type schema:CreativeWork
    252 sg:pub.10.1038/ng.221 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000435695
    253 https://doi.org/10.1038/ng.221
    254 rdf:type schema:CreativeWork
    255 sg:pub.10.1038/ng.249 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003424220
    256 https://doi.org/10.1038/ng.249
    257 rdf:type schema:CreativeWork
    258 sg:pub.10.1038/ng.381 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052626361
    259 https://doi.org/10.1038/ng.381
    260 rdf:type schema:CreativeWork
    261 sg:pub.10.1038/ng.468 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000425285
    262 https://doi.org/10.1038/ng.468
    263 rdf:type schema:CreativeWork
    264 sg:pub.10.1038/ng1653 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050281556
    265 https://doi.org/10.1038/ng1653
    266 rdf:type schema:CreativeWork
    267 sg:pub.10.1038/ng1706 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009205998
    268 https://doi.org/10.1038/ng1706
    269 rdf:type schema:CreativeWork
    270 sg:pub.10.1038/ng1766 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013947213
    271 https://doi.org/10.1038/ng1766
    272 rdf:type schema:CreativeWork
    273 sg:pub.10.1038/ng1800 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051266156
    274 https://doi.org/10.1038/ng1800
    275 rdf:type schema:CreativeWork
    276 sg:pub.10.1038/ng2068 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049634155
    277 https://doi.org/10.1038/ng2068
    278 rdf:type schema:CreativeWork
    279 sg:pub.10.1038/nrg1522 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011092335
    280 https://doi.org/10.1038/nrg1522
    281 rdf:type schema:CreativeWork
    282 sg:pub.10.1038/sj.ejhg.5201089 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043157332
    283 https://doi.org/10.1038/sj.ejhg.5201089
    284 rdf:type schema:CreativeWork
    285 sg:pub.10.1186/1471-2156-6-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005026094
    286 https://doi.org/10.1186/1471-2156-6-9
    287 rdf:type schema:CreativeWork
    288 sg:pub.10.1186/1471-2350-11-10 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012093417
    289 https://doi.org/10.1186/1471-2350-11-10
    290 rdf:type schema:CreativeWork
    291 https://app.dimensions.ai/details/publication/pub.1074367227 schema:CreativeWork
    292 https://app.dimensions.ai/details/publication/pub.1077187195 schema:CreativeWork
    293 https://app.dimensions.ai/details/publication/pub.1077951722 schema:CreativeWork
    294 https://app.dimensions.ai/details/publication/pub.1082810345 schema:CreativeWork
    295 https://doi.org/10.1002/1529-0131(200006)43:6<1397::aid-anr25>3.0.co;2-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040497052
    296 rdf:type schema:CreativeWork
    297 https://doi.org/10.1002/art.20772 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007743626
    298 rdf:type schema:CreativeWork
    299 https://doi.org/10.1002/eji.200838449 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024013937
    300 rdf:type schema:CreativeWork
    301 https://doi.org/10.1002/ibd.20425 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003646515
    302 rdf:type schema:CreativeWork
    303 https://doi.org/10.1002/ibd.20488 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047284185
    304 rdf:type schema:CreativeWork
    305 https://doi.org/10.1006/bcmd.2000.0349 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029211465
    306 rdf:type schema:CreativeWork
    307 https://doi.org/10.1016/1357-4310(96)88773-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015579916
    308 rdf:type schema:CreativeWork
    309 https://doi.org/10.1016/j.bcmd.2004.04.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004061771
    310 rdf:type schema:CreativeWork
    311 https://doi.org/10.1016/j.cancergencyto.2004.09.017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031051336
    312 rdf:type schema:CreativeWork
    313 https://doi.org/10.1016/j.immuni.2010.04.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026794471
    314 rdf:type schema:CreativeWork
    315 https://doi.org/10.1016/j.meegid.2006.01.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048000530
    316 rdf:type schema:CreativeWork
    317 https://doi.org/10.1016/j.metabol.2004.12.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004785297
    318 rdf:type schema:CreativeWork
    319 https://doi.org/10.1016/s0039-6060(97)90006-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018831658
    320 rdf:type schema:CreativeWork
    321 https://doi.org/10.1016/s0140-6736(09)60568-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022836597
    322 rdf:type schema:CreativeWork
    323 https://doi.org/10.1016/s1286-4579(00)00295-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042273864
    324 rdf:type schema:CreativeWork
    325 https://doi.org/10.1034/j.1399-0004.2000.580113.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1041035652
    326 rdf:type schema:CreativeWork
    327 https://doi.org/10.1034/j.1399-0039.2000.550107.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1036101897
    328 rdf:type schema:CreativeWork
    329 https://doi.org/10.1034/j.1399-0039.2001.580606.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1017024489
    330 rdf:type schema:CreativeWork
    331 https://doi.org/10.1046/j.1469-1809.2000.6460507.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1026328978
    332 rdf:type schema:CreativeWork
    333 https://doi.org/10.1056/nejm199803053381002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022364533
    334 rdf:type schema:CreativeWork
    335 https://doi.org/10.1084/jem.180.5.1741 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037903095
    336 rdf:type schema:CreativeWork
    337 https://doi.org/10.1086/302334 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609912
    338 rdf:type schema:CreativeWork
    339 https://doi.org/10.1086/303012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610558
    340 rdf:type schema:CreativeWork
    341 https://doi.org/10.1086/338007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058637652
    342 rdf:type schema:CreativeWork
    343 https://doi.org/10.1086/345878 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028469826
    344 rdf:type schema:CreativeWork
    345 https://doi.org/10.1111/j.1365-2249.2008.03860.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1034956180
    346 rdf:type schema:CreativeWork
    347 https://doi.org/10.1111/j.1744-313x.2008.00814.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1025243339
    348 rdf:type schema:CreativeWork
    349 https://doi.org/10.1136/jmg.33.8.672 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052670763
    350 rdf:type schema:CreativeWork
    351 https://doi.org/10.1136/jmg.36.4.295 schema:sameAs https://app.dimensions.ai/details/publication/pub.1074367227
    352 rdf:type schema:CreativeWork
    353 https://doi.org/10.1165/ajrcmb.22.6.3745 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025460121
    354 rdf:type schema:CreativeWork
    355 https://doi.org/10.1371/journal.pone.0007109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028544252
    356 rdf:type schema:CreativeWork
    357 https://doi.org/10.1371/journal.pone.0010693 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039812442
    358 rdf:type schema:CreativeWork
    359 https://doi.org/10.2337/db07-1608 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024903884
    360 rdf:type schema:CreativeWork
    361 https://doi.org/10.2337/diabetes.47.11.1797 schema:sameAs https://app.dimensions.ai/details/publication/pub.1070743734
    362 rdf:type schema:CreativeWork
    363 https://doi.org/10.2337/diabetes.49.10.1744 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020042885
    364 rdf:type schema:CreativeWork
    365 https://doi.org/10.3346/jkms.2000.15.1.83 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050276793
    366 rdf:type schema:CreativeWork
    367 https://doi.org/10.4049/jimmunol.173.1.164 schema:sameAs https://app.dimensions.ai/details/publication/pub.1076855496
    368 rdf:type schema:CreativeWork
    369 https://www.grid.ac/institutes/grid.5335.0 schema:alternateName University of Cambridge
    370 schema:name Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Hills Road, CB2 0XY, Cambridge, UK
    371 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...