Ontology type: schema:ScholarlyArticle Open Access: True
2018-12
AUTHORSSílvia Bonàs-Guarch, Marta Guindo-Martínez, Irene Miguel-Escalada, Niels Grarup, David Sebastian, Elias Rodriguez-Fos, Friman Sánchez, Mercè Planas-Fèlix, Paula Cortes-Sánchez, Santi González, Pascal Timshel, Tune H. Pers, Claire C. Morgan, Ignasi Moran, Goutham Atla, Juan R. González, Montserrat Puiggros, Jonathan Martí, Ehm A. Andersson, Carlos Díaz, Rosa M. Badia, Miriam Udler, Aaron Leong, Varindepal Kaur, Jason Flannick, Torben Jørgensen, Allan Linneberg, Marit E. Jørgensen, Daniel R. Witte, Cramer Christensen, Ivan Brandslund, Emil V. Appel, Robert A. Scott, Jian’an Luan, Claudia Langenberg, Nicholas J. Wareham, Oluf Pedersen, Antonio Zorzano, Jose C Florez, Torben Hansen, Jorge Ferrer, Josep Maria Mercader, David Torrents
ABSTRACTThe reanalysis of existing GWAS data represents a powerful and cost-effective opportunity to gain insights into the genetics of complex diseases. By reanalyzing publicly available type 2 diabetes (T2D) genome-wide association studies (GWAS) data for 70,127 subjects, we identify seven novel associated regions, five driven by common variants (LYPLAL1, NEUROG3, CAMKK2, ABO, and GIP genes), one by a low-frequency (EHMT2), and one driven by a rare variant in chromosome Xq23, rs146662057, associated with a twofold increased risk for T2D in males. rs146662057 is located within an active enhancer associated with the expression of Angiotensin II Receptor type 2 gene (AGTR2), a modulator of insulin sensitivity, and exhibits allelic specific activity in muscle cells. Beyond providing insights into the genetics and pathophysiology of T2D, these results also underscore the value of reanalyzing publicly available data using novel genetic resources and analytical approaches. More... »
PAGES321
http://scigraph.springernature.com/pub.10.1038/s41467-017-02380-9
DOIhttp://dx.doi.org/10.1038/s41467-017-02380-9
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1100426965
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/29358691
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": "Alleles",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Chromosomes, Human, X",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Gene Regulatory Networks",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Predisposition to Disease",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genome-Wide Association Study",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genotype",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Insulin Resistance",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Models, Genetic",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Polymorphism, Single Nucleotide",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Risk Factors",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Barcelona Supercomputing Center",
"id": "https://www.grid.ac/institutes/grid.10097.3f",
"name": [
"Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Bon\u00e0s-Guarch",
"givenName": "S\u00edlvia",
"id": "sg:person.01244116054.28",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244116054.28"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Barcelona Supercomputing Center",
"id": "https://www.grid.ac/institutes/grid.10097.3f",
"name": [
"Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Guindo-Mart\u00ednez",
"givenName": "Marta",
"id": "sg:person.01265760637.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265760637.31"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Imperial College London",
"id": "https://www.grid.ac/institutes/grid.7445.2",
"name": [
"Genomic Programming of Beta-cells Laboratory, Institut d\u2019Investigacions August Pi i Sunyer (IDIBAPS), 08036, Barcelona, Spain",
"Instituto de Salud Carlos III, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), 28029, Madrid, Spain",
"Section of Epigenomics and Disease, Department of Medicine, Imperial College London, W12 0NN, London, UK"
],
"type": "Organization"
},
"familyName": "Miguel-Escalada",
"givenName": "Irene",
"id": "sg:person.01141413600.46",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01141413600.46"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Copenhagen",
"id": "https://www.grid.ac/institutes/grid.5254.6",
"name": [
"The Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark"
],
"type": "Organization"
},
"familyName": "Grarup",
"givenName": "Niels",
"id": "sg:person.0611555753.26",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0611555753.26"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Barcelona",
"id": "https://www.grid.ac/institutes/grid.5841.8",
"name": [
"Instituto de Salud Carlos III, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), 28029, Madrid, Spain",
"Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac 10-12, 08028, Barcelona, Spain",
"Departament de Bioqu\u00edmica i Biomedicina Molecular, Facultat de Biologia, Universitat de Barcelona, 08028, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Sebastian",
"givenName": "David",
"id": "sg:person.01200621514.16",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200621514.16"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Barcelona Supercomputing Center",
"id": "https://www.grid.ac/institutes/grid.10097.3f",
"name": [
"Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Rodriguez-Fos",
"givenName": "Elias",
"id": "sg:person.013207765537.45",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013207765537.45"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Barcelona Supercomputing Center",
"id": "https://www.grid.ac/institutes/grid.10097.3f",
"name": [
"Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain",
"Computer Sciences Department, Barcelona Supercomputing Center (BSC-CNS), 08034, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "S\u00e1nchez",
"givenName": "Friman",
"id": "sg:person.010753177345.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010753177345.31"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Barcelona Supercomputing Center",
"id": "https://www.grid.ac/institutes/grid.10097.3f",
"name": [
"Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Planas-F\u00e8lix",
"givenName": "Merc\u00e8",
"id": "sg:person.01111673026.57",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01111673026.57"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Barcelona Supercomputing Center",
"id": "https://www.grid.ac/institutes/grid.10097.3f",
"name": [
"Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Cortes-S\u00e1nchez",
"givenName": "Paula",
"id": "sg:person.010543737264.99",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010543737264.99"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Barcelona Supercomputing Center",
"id": "https://www.grid.ac/institutes/grid.10097.3f",
"name": [
"Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Gonz\u00e1lez",
"givenName": "Santi",
"id": "sg:person.0667610566.99",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0667610566.99"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Statens Serum Institut",
"id": "https://www.grid.ac/institutes/grid.6203.7",
"name": [
"The Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark",
"Department of Epidemiology Research, Statens Serum Institut, 2300, Copenhagen, Denmark"
],
"type": "Organization"
},
"familyName": "Timshel",
"givenName": "Pascal",
"id": "sg:person.01325435724.52",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325435724.52"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Broad Institute",
"id": "https://www.grid.ac/institutes/grid.66859.34",
"name": [
"The Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark",
"Department of Epidemiology Research, Statens Serum Institut, 2300, Copenhagen, Denmark",
"Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children\u2019s Hospital, 02116, Boston, MA, USA",
"Medical and Population Genetics Program, Broad Institute of MIT and Harvard, 02142, Cambridge, MA, USA"
],
"type": "Organization"
},
"familyName": "Pers",
"givenName": "Tune H.",
"id": "sg:person.01134046226.44",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134046226.44"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Imperial College London",
"id": "https://www.grid.ac/institutes/grid.7445.2",
"name": [
"Section of Epigenomics and Disease, Department of Medicine, Imperial College London, W12 0NN, London, UK"
],
"type": "Organization"
},
"familyName": "Morgan",
"givenName": "Claire C.",
"id": "sg:person.012321242064.19",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012321242064.19"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Imperial College London",
"id": "https://www.grid.ac/institutes/grid.7445.2",
"name": [
"Section of Epigenomics and Disease, Department of Medicine, Imperial College London, W12 0NN, London, UK"
],
"type": "Organization"
},
"familyName": "Moran",
"givenName": "Ignasi",
"id": "sg:person.01110045137.35",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110045137.35"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Imperial College London",
"id": "https://www.grid.ac/institutes/grid.7445.2",
"name": [
"Genomic Programming of Beta-cells Laboratory, Institut d\u2019Investigacions August Pi i Sunyer (IDIBAPS), 08036, Barcelona, Spain",
"Instituto de Salud Carlos III, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), 28029, Madrid, Spain",
"Section of Epigenomics and Disease, Department of Medicine, Imperial College London, W12 0NN, London, UK"
],
"type": "Organization"
},
"familyName": "Atla",
"givenName": "Goutham",
"id": "sg:person.014474366477.03",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014474366477.03"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Pompeu Fabra University",
"id": "https://www.grid.ac/institutes/grid.5612.0",
"name": [
"ISGlobal, Centre for Research in Environmental Epidemiology (CREAL), 08003, Barcelona, Spain",
"CIBER Epidemiolog\u00eda y Salud P\u00fablica (CIBERESP), 28029, Madrid, Spain",
"Universitat Pompeu Fabra (UPF), 08003, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Gonz\u00e1lez",
"givenName": "Juan R.",
"id": "sg:person.01352243270.16",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352243270.16"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Barcelona Supercomputing Center",
"id": "https://www.grid.ac/institutes/grid.10097.3f",
"name": [
"Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Puiggros",
"givenName": "Montserrat",
"id": "sg:person.01033774323.12",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01033774323.12"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Barcelona Supercomputing Center",
"id": "https://www.grid.ac/institutes/grid.10097.3f",
"name": [
"Computer Sciences Department, Barcelona Supercomputing Center (BSC-CNS), 08034, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Mart\u00ed",
"givenName": "Jonathan",
"id": "sg:person.013464242071.13",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013464242071.13"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Copenhagen",
"id": "https://www.grid.ac/institutes/grid.5254.6",
"name": [
"The Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark"
],
"type": "Organization"
},
"familyName": "Andersson",
"givenName": "Ehm A.",
"id": "sg:person.01004203750.27",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004203750.27"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Barcelona Supercomputing Center",
"id": "https://www.grid.ac/institutes/grid.10097.3f",
"name": [
"Computer Sciences Department, Barcelona Supercomputing Center (BSC-CNS), 08034, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "D\u00edaz",
"givenName": "Carlos",
"id": "sg:person.015611575364.18",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015611575364.18"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Spanish National Research Council",
"id": "https://www.grid.ac/institutes/grid.4711.3",
"name": [
"Computer Sciences Department, Barcelona Supercomputing Center (BSC-CNS), 08034, Barcelona, Spain",
"Artificial Intelligence Research Institute (IIIA), Spanish Council for Scientific Research (CSIC), 28006, Madrid, Spain"
],
"type": "Organization"
},
"familyName": "Badia",
"givenName": "Rosa M.",
"id": "sg:person.010661125031.00",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010661125031.00"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Massachusetts General Hospital",
"id": "https://www.grid.ac/institutes/grid.32224.35",
"name": [
"Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, 02142, Cambridge, MA, USA",
"Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, 02114, Boston, MA, USA"
],
"type": "Organization"
},
"familyName": "Udler",
"givenName": "Miriam",
"id": "sg:person.01371016420.36",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01371016420.36"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Massachusetts General Hospital",
"id": "https://www.grid.ac/institutes/grid.32224.35",
"name": [
"Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, 02114, Boston, MA, USA",
"Division of General Internal Medicine, Massachusetts General Hospital, 02114, Boston, MA, USA"
],
"type": "Organization"
},
"familyName": "Leong",
"givenName": "Aaron",
"id": "sg:person.01025751427.14",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025751427.14"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Massachusetts General Hospital",
"id": "https://www.grid.ac/institutes/grid.32224.35",
"name": [
"Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, 02114, Boston, MA, USA"
],
"type": "Organization"
},
"familyName": "Kaur",
"givenName": "Varindepal",
"id": "sg:person.013054350364.03",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013054350364.03"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Harvard University",
"id": "https://www.grid.ac/institutes/grid.38142.3c",
"name": [
"Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, 02142, Cambridge, MA, USA",
"Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, 02114, Boston, MA, USA",
"Department of Molecular Biology, Harvard Medical School, 02114, Boston, MA, USA"
],
"type": "Organization"
},
"familyName": "Flannick",
"givenName": "Jason",
"id": "sg:person.0734754054.33",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734754054.33"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Aalborg University",
"id": "https://www.grid.ac/institutes/grid.5117.2",
"name": [
"Research Centre for Prevention and Health, Capital Region of Denmark, DK-2600, Glostrup, Denmark",
"Faculty of Health and Medical Sciences, University of Copenhagen, DK-2200, Copenhagen, Denmark",
"Faculty of Medicine, University of Aalborg, DK-9220, Aalborg East, Denmark"
],
"type": "Organization"
},
"familyName": "J\u00f8rgensen",
"givenName": "Torben",
"id": "sg:person.01002106575.49",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002106575.49"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Copenhagen",
"id": "https://www.grid.ac/institutes/grid.5254.6",
"name": [
"Research Centre for Prevention and Health, Capital Region of Denmark, DK-2600, Glostrup, Denmark",
"Department of Clinical Experimental Research, Rigshospitalet, Glostrup, 2100, Copenhagen, Denmark",
"Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2200, Copenhagen, Denmark"
],
"type": "Organization"
},
"familyName": "Linneberg",
"givenName": "Allan",
"id": "sg:person.0637662640.88",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637662640.88"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Steno Diabetes Center",
"id": "https://www.grid.ac/institutes/grid.419658.7",
"name": [
"Steno Diabetes Center, 2820, Gentofte, Denmark",
"National Institute of Public Health, Southern Denmark University, DK-5230, Odense M, Denmark"
],
"type": "Organization"
},
"familyName": "J\u00f8rgensen",
"givenName": "Marit E.",
"id": "sg:person.01154736424.87",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154736424.87"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Danish Diabetes Academy",
"id": "https://www.grid.ac/institutes/grid.484078.7",
"name": [
"Department of Public Health, Aarhus University, DK-8000, Aarhus C, Denmark",
"Danish Diabetes Academy, DK-5000, Odense C, Denmark"
],
"type": "Organization"
},
"familyName": "Witte",
"givenName": "Daniel R.",
"id": "sg:person.0662552055.53",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662552055.53"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Sygehus Lilleb\u00e6lt",
"id": "https://www.grid.ac/institutes/grid.459623.f",
"name": [
"Medical department, Lillebaelt Hospital, 7100, Vejle, Denmark"
],
"type": "Organization"
},
"familyName": "Christensen",
"givenName": "Cramer",
"id": "sg:person.01106754655.50",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106754655.50"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Southern Denmark",
"id": "https://www.grid.ac/institutes/grid.10825.3e",
"name": [
"Department of Clinical Biochemistry, Lillebaelt Hospital, 7100, Vejle, Denmark",
"Institute of Regional Health Research, University of Southern Denmark, DK-5230, Odense, Denmark"
],
"type": "Organization"
},
"familyName": "Brandslund",
"givenName": "Ivan",
"id": "sg:person.0112255365.50",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0112255365.50"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Copenhagen",
"id": "https://www.grid.ac/institutes/grid.5254.6",
"name": [
"The Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark"
],
"type": "Organization"
},
"familyName": "Appel",
"givenName": "Emil V.",
"id": "sg:person.01132466442.93",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01132466442.93"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Cambridge",
"id": "https://www.grid.ac/institutes/grid.5335.0",
"name": [
"MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, CB2 0QQ, Cambridge, UK"
],
"type": "Organization"
},
"familyName": "Scott",
"givenName": "Robert A.",
"id": "sg:person.0600656421.96",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600656421.96"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Cambridge",
"id": "https://www.grid.ac/institutes/grid.5335.0",
"name": [
"MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, CB2 0QQ, Cambridge, UK"
],
"type": "Organization"
},
"familyName": "Luan",
"givenName": "Jian\u2019an",
"id": "sg:person.0776707354.45",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776707354.45"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Cambridge",
"id": "https://www.grid.ac/institutes/grid.5335.0",
"name": [
"MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, CB2 0QQ, Cambridge, UK"
],
"type": "Organization"
},
"familyName": "Langenberg",
"givenName": "Claudia",
"id": "sg:person.0616003437.07",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0616003437.07"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Cambridge",
"id": "https://www.grid.ac/institutes/grid.5335.0",
"name": [
"MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, CB2 0QQ, Cambridge, UK"
],
"type": "Organization"
},
"familyName": "Wareham",
"givenName": "Nicholas J.",
"id": "sg:person.013723776517.34",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013723776517.34"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Copenhagen",
"id": "https://www.grid.ac/institutes/grid.5254.6",
"name": [
"The Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark"
],
"type": "Organization"
},
"familyName": "Pedersen",
"givenName": "Oluf",
"id": "sg:person.0765447455.52",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765447455.52"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Barcelona",
"id": "https://www.grid.ac/institutes/grid.5841.8",
"name": [
"Instituto de Salud Carlos III, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), 28029, Madrid, Spain",
"Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac 10-12, 08028, Barcelona, Spain",
"Departament de Bioqu\u00edmica i Biomedicina Molecular, Facultat de Biologia, Universitat de Barcelona, 08028, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Zorzano",
"givenName": "Antonio",
"id": "sg:person.0746450557.14",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746450557.14"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Harvard University",
"id": "https://www.grid.ac/institutes/grid.38142.3c",
"name": [
"Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, 02142, Cambridge, MA, USA",
"Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, 02114, Boston, MA, USA",
"Department of Medicine, Harvard Medical School, 02115, Boston, MA, USA"
],
"type": "Organization"
},
"familyName": "Florez",
"givenName": "Jose C",
"id": "sg:person.0724070511.22",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724070511.22"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Southern Denmark",
"id": "https://www.grid.ac/institutes/grid.10825.3e",
"name": [
"The Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark",
"Faculty of Health Sciences, University of Southern Denmark, DK-5230, Odense M, Denmark"
],
"type": "Organization"
},
"familyName": "Hansen",
"givenName": "Torben",
"id": "sg:person.016350427407.47",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016350427407.47"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Imperial College London",
"id": "https://www.grid.ac/institutes/grid.7445.2",
"name": [
"Genomic Programming of Beta-cells Laboratory, Institut d\u2019Investigacions August Pi i Sunyer (IDIBAPS), 08036, Barcelona, Spain",
"Instituto de Salud Carlos III, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), 28029, Madrid, Spain",
"Section of Epigenomics and Disease, Department of Medicine, Imperial College London, W12 0NN, London, UK"
],
"type": "Organization"
},
"familyName": "Ferrer",
"givenName": "Jorge",
"id": "sg:person.01204526717.00",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204526717.00"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Massachusetts General Hospital",
"id": "https://www.grid.ac/institutes/grid.32224.35",
"name": [
"Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain",
"Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, 02142, Cambridge, MA, USA",
"Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, 02114, Boston, MA, USA"
],
"type": "Organization"
},
"familyName": "Mercader",
"givenName": "Josep Maria",
"id": "sg:person.01354503354.99",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354503354.99"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Instituci\u00f3 Catalana de Recerca i Estudis Avan\u00e7ats",
"id": "https://www.grid.ac/institutes/grid.425902.8",
"name": [
"Barcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain",
"Instituci\u00f3 Catalana de Recerca i Estudis Avan\u00e7ats (ICREA), 08010, Barcelona, Spain"
],
"type": "Organization"
},
"familyName": "Torrents",
"givenName": "David",
"id": "sg:person.01215532237.43",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01215532237.43"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/nature11632",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000661742",
"https://doi.org/10.1038/nature11632"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.ajhg.2009.11.001",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002832296"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/gtc.12226",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003915195"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pgen.1003500",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004164501"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1113/jphysiol.2004.064881",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004217651"
],
"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": "sg:pub.10.1038/ng.2882",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006024989",
"https://doi.org/10.1038/ng.2882"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pgen.1002607",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006031494"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pgen.1002607",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006031494"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s11010-014-2280-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006246644",
"https://doi.org/10.1007/s11010-014-2280-3"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2337/db10-1008",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006717714"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2337/diabetes.54.4.991",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006835189"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1152/ajpendo.00286.2013",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007179926"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pone.0067192",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007364075"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.241349398",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008852304"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pgen.1004127",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008917119"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.3390/jpm6010002",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011810647"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.ijcard.2012.06.125",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1012419113"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2897",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013812051",
"https://doi.org/10.1038/ng.2897"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.mce.2015.05.001",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014184622"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.5888/pcd12.150006",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015579997"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2435",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016174016",
"https://doi.org/10.1038/ng.2435"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nprot.2010.116",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016226591",
"https://doi.org/10.1038/nprot.2010.116"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.97.4.1607",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019671575"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pgen.1001324",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020301063"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0014-4827(85)90187-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020632385"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pgen.1002695",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020959085"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2274",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022356000",
"https://doi.org/10.1038/ng.2274"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2274",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022356000",
"https://doi.org/10.1038/ng.2274"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ncomms6890",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022399023",
"https://doi.org/10.1038/ncomms6890"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.871",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025506940",
"https://doi.org/10.1038/ng.871"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2416",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026465920",
"https://doi.org/10.1038/ng.2416"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pmed.1001647",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1028107642"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2870",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1028426177",
"https://doi.org/10.1038/ng.2870"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1464-5491.2007.02072.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029148870"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.521",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029752947",
"https://doi.org/10.1038/ng.521"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.521",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029752947",
"https://doi.org/10.1038/ng.521"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ncomms6897",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029757015",
"https://doi.org/10.1038/ncomms6897"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature13425",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030587031",
"https://doi.org/10.1038/nature13425"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.ejim.2010.07.008",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031330467"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature14248",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031836937",
"https://doi.org/10.1038/nature14248"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrg.2016.56",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033201587",
"https://doi.org/10.1038/nrg.2016.56"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1056/nejmoa065061",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033878043"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.1402665111",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034242445"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.3396",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034378235",
"https://doi.org/10.1038/ng.3396"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.18632/oncotarget.2617",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034380322"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature18642",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036558635",
"https://doi.org/10.1038/nature18642"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00125-014-3472-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037399163",
"https://doi.org/10.1007/s00125-014-3472-9"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00125-014-3472-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037399163",
"https://doi.org/10.1007/s00125-014-3472-9"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1001/jama.2014.6511",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038469923"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ejhg.2016.17",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039470295",
"https://doi.org/10.1038/ejhg.2016.17"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1210/jc.2014-4160",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039546379"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature06010",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040278865",
"https://doi.org/10.1038/nature06010"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.3437",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041209717",
"https://doi.org/10.1038/ng.3437"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.609",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041224776",
"https://doi.org/10.1038/ng.609"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.609",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041224776",
"https://doi.org/10.1038/ng.609"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pgen.1000529",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043446290"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nmeth.2307",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043747449",
"https://doi.org/10.1038/nmeth.2307"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/534435b",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043749154",
"https://doi.org/10.1038/534435b"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ncomms9111",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044833567",
"https://doi.org/10.1038/ncomms9111"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00125-011-2277-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045030318",
"https://doi.org/10.1007/s00125-011-2277-3"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00125-011-2277-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045030318",
"https://doi.org/10.1007/s00125-011-2277-3"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.1016071107",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047051560"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/bioinformatics/btq330",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047117020"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/bioinformatics/btq340",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047276303"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/nar/gkt1229",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047459836"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/nar/gkt1229",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047459836"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1126/science.aaa0355",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047875074"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2606",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049236324",
"https://doi.org/10.1038/ng.2606"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/345229a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049413293",
"https://doi.org/10.1038/345229a0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2892",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050728268",
"https://doi.org/10.1038/ng.2892"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2337/db10-1532",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050786446"
],
"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/10.1126/science.1142358",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1062456029"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.3810",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1084129150",
"https://doi.org/10.1038/ng.3810"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1101/166298",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1091921134"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1101/166298",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1091921134"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1101/166298",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1091921134"
],
"type": "CreativeWork"
}
],
"datePublished": "2018-12",
"datePublishedReg": "2018-12-01",
"description": "The reanalysis of existing GWAS data represents a powerful and cost-effective opportunity to gain insights into the genetics of complex diseases. By reanalyzing publicly available type 2 diabetes (T2D) genome-wide association studies (GWAS) data for 70,127 subjects, we identify seven novel associated regions, five driven by common variants (LYPLAL1, NEUROG3, CAMKK2, ABO, and GIP genes), one by a low-frequency (EHMT2), and one driven by a rare variant in chromosome Xq23, rs146662057, associated with a twofold increased risk for T2D in males. rs146662057 is\u00a0located within an active enhancer associated with the expression of Angiotensin II Receptor type 2 gene (AGTR2), a modulator of insulin sensitivity, and\u00a0exhibits allelic specific activity in muscle cells. Beyond providing insights into the genetics and pathophysiology of T2D, these results also underscore the value of reanalyzing publicly available data using novel genetic resources and analytical approaches.",
"genre": "research_article",
"id": "sg:pub.10.1038/s41467-017-02380-9",
"inLanguage": [
"en"
],
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.3756331",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.3625736",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.3959059",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.3560622",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.5050836",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.6953489",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1043282",
"issn": [
"2041-1723"
],
"name": "Nature Communications",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "9"
}
],
"name": "Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes",
"pagination": "321",
"productId": [
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s41467-017-02380-9"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1100426965"
]
},
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"d40a9e4644734ec57c5a8c6e2d5e1022ccce1650d1439ba57f581167027b00b6"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"101528555"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"29358691"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s41467-017-02380-9",
"https://app.dimensions.ai/details/publication/pub.1100426965"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-16T06:23",
"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/v90/0000000377_0000000377/records_106819_00000002.jsonl",
"type": "ScholarlyArticle",
"url": "https://www.nature.com/articles/s41467-017-02380-9"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
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.10.1038/s41467-017-02380-9'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41467-017-02380-9'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41467-017-02380-9'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41467-017-02380-9'
This table displays all metadata directly associated to this object as RDF triples.
739 TRIPLES
21 PREDICATES
110 URIs
33 LITERALS
21 BLANK NODES