Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-10-15

AUTHORS

Yitian Zhou, Volker M. Lauschke

ABSTRACT

Both safety and efficacy of medical treatment can vary depending on the ethnogeographic background of the patient. One of the reasons underlying this variability is differences in pharmacogenetic polymorphisms in genes involved in drug disposition, as well as in drug targets. Knowledge and appreciation of these differences is thus essential to optimize population-stratified care. Here, we provide an extensive updated analysis of population pharmacogenomics in ten pharmacokinetic genes (CYP2D6, CYP2C19, DPYD, TPMT, NUDT15 and SLC22A1), drug targets (CFTR) and genes involved in drug hypersensitivity (HLA-A, HLA-B) or drug-induced acute hemolytic anemia (G6PD). Combined, polymorphisms in the analyzed genes affect the pharmacology, efficacy or safety of 141 different drugs and therapeutic regimens. The data reveal pronounced differences in the genetic landscape, complexity and variant frequencies between ethnogeographic groups. Reduced function alleles of CYP2D6, SLC22A1 and CFTR were most prevalent in individuals of European descent, whereas DPYD and TPMT deficiencies were most common in Sub-Saharan Africa. Oceanian populations showed the highest frequencies of CYP2C19 loss-of-function alleles while their inferred CYP2D6 activity was among the highest worldwide. Frequencies of HLA-B*15:02 and HLA-B*58:01 were highest across Asia, which has important implications for the risk of severe cutaneous adverse reactions upon treatment with carbamazepine and allopurinol. G6PD deficiencies were most frequent in Africa, the Middle East and Southeast Asia with pronounced differences in variant composition. These variability data provide an important resource to inform cost-effectiveness modeling and guide population-specific genotyping strategies with the goal of optimizing the implementation of precision public health. More... »

PAGES

1113-1136

References to SciGraph publications

  • 2015-10-27. Pharmacogenetic comparison of CYP2D6 predictive and measured phenotypes in a South African cohort in THE PHARMACOGENOMICS JOURNAL
  • 2011-05-11. Genetically Polymorphic OCT1: Another Piece in the Puzzle of the Variable Pharmacokinetics and Pharmacodynamics of the Opioidergic Drug Tramadol in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2021-02-03. Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Lue ethnic group of northern Thailand in SCIENTIFIC REPORTS
  • 2019-11-02. The genetic landscape of the human solute carrier (SLC) transporter superfamily in HUMAN GENETICS
  • 2014-09-01. A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia in NATURE GENETICS
  • 2001-03-28. Genetic polymorphism of CYP2D6 and CYP2C19 in East- and Southern African populations including psychiatric patients in EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY
  • 2010-07-05. Prevalence and molecular characterization of Glucose-6-Phosphate dehydrogenase deficient variants among the Kurdish population of Northern Iraq in BMC HEMATOLOGY
  • 2016-07-07. Prediction of CYP2D6 phenotype from genotype across world populations in GENETICS IN MEDICINE
  • 2019-02-07. Impact of NUDT15 genetics on severe thiopurine-related hematotoxicity in patients with European ancestry in GENETICS IN MEDICINE
  • 2016-11-17. Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World in SCIENTIFIC REPORTS
  • 2019-07-29. Frequencies of clinically important CYP2C19 and CYP2D6 alleles are graded across Europe in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-03-20. Understanding human genetic factors influencing primaquine safety and efficacy to guide primaquine roll-out in a pre-elimination setting in southern Africa in MALARIA JOURNAL
  • 2013-04-03. A DPYD Variant (Y186C) in Individuals of African Ancestry Is Associated With Reduced DPD Enzyme Activity in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2014-01-16. Genetic polymorphisms of CYP2C8, CYP2C9 and CYP2C19 in Ecuadorian Mestizo and Spaniard populations: a comparative study in MOLECULAR BIOLOGY REPORTS
  • 1996-04. Causes and Problems of Nonresponse or Poor Response to Drugs in DRUGS
  • 2005-09-01. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in the Cambodian population in JOURNAL OF HUMAN GENETICS
  • 2001-08. Detection of one single mutation predicts thiopurine S‐methyltransferase activity in a population of Saami in northern Norway in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2010-08-29. Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity in HUMAN GENETICS
  • 2011-01-26. Clinical Pharmacogenetics Implementation Consortium Guidelines for Thiopurine Methyltransferase Genotype and Thiopurine Dosing in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2018-10-26. Glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ethiopia: absence of common African and Mediterranean allelic variants in a nationwide study in MALARIA JOURNAL
  • 2013-08-29. Clinical Pharmacogenetics Implementation Consortium Guidelines for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2021-06-02. The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders in NPJ GENOMIC MEDICINE
  • 2004-12. Polymorphisms of CYP2C19 and CYP2D6 in Israeli Ethnic Groups in AMERICAN JOURNAL OF PHARMACOGENOMICS
  • 2015-09-30. A global reference for human genetic variation in NATURE
  • 2010-12-07. CYP2D6 genotype and debrisoquine hydroxylation phenotype in Cubans and Nicaraguans in THE PHARMACOGENOMICS JOURNAL
  • 2011-12-15. Prevalence and distribution of glucose-6-phosphate dehydrogenase (G6PD) variants in Thai and Burmese populations in malaria endemic areas of Thailand in MALARIA JOURNAL
  • 2013-11-15. Spatial distribution of G6PD deficiency variants across malaria-endemic regions in MALARIA JOURNAL
  • 2012-03-15. CYP2C19 polymorphism affects single-dose pharmacokinetics of oral pantoprazole in healthy volunteers in EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY
  • 2021-02-24. Meta-analysis of probability estimates of worldwide variation of CYP2D6 and CYP2C19 in TRANSLATIONAL PSYCHIATRY
  • 2021-06-01. Advancing precision public health using human genomics: examples from the field and future research opportunities in GENOME MEDICINE
  • 2013-12-10. HLA-A*31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis in THE PHARMACOGENOMICS JOURNAL
  • 2004-10-19. Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity in THE PHARMACOGENOMICS JOURNAL
  • 2005-06. Tramadol as a New Probe for Cytochrome P450 2D6 Phenotyping: A Population Study in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2004-09-03. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Myanmar: G6PD Mahidol (487G>A) is the most common variant in the Myanmar population in JOURNAL OF HUMAN GENETICS
  • 2018-03-02. Primaquine-induced haemolysis in females heterozygous for G6PD deficiency in MALARIA JOURNAL
  • 1999-08. Low frequency of defective alleles of cytochrome P450 enzymes 2C19 and 2D6 in the Turkish population in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2020-10-13. Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution in SCIENTIFIC REPORTS
  • 2011-01-12. CYP2D6 genotyping by liquid chromatography-electrospray ionization mass spectrometry in ANALYTICAL AND BIOANALYTICAL CHEMISTRY
  • 2017-11-27. Pharmacogenomic Biomarkers for Improved Drug Therapy—Recent Progress and Future Developments in THE AAPS JOURNAL
  • 2011-07-28. Screening of genetic variations of SLC15A2, SLC22A1, SLC22A2 and SLC22A6 genes in JOURNAL OF HUMAN GENETICS
  • 2013-05-05. High prevalence of CYP2C19*2 allele in Roma samples: study on Roma and Hungarian population samples with review of the literature in MOLECULAR BIOLOGY REPORTS
  • 2012-05-23. Immune self-reactivity triggered by drug-modified HLA-peptide repertoire in NATURE
  • 2004-09-01. Molecular diversity at the CYP2D6 locus in the Mediterranean region in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-01-07. Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population in MALARIA JOURNAL
  • 2004-04. A marker for Stevens–Johnson syndrome in NATURE
  • 2008-05-02. G6PD deficiency assessment in Freetown, Sierra Leone, reveals further insight into the molecular heterogeneity of G6PD A- in JOURNAL OF HUMAN GENETICS
  • 2013-05-22. Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C19 Genotype and Clopidogrel Therapy: 2013 Update in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2020-09-25. Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier in BRITISH JOURNAL OF CANCER
  • 2002-09. Pharmacokinetics of diltiazem and its metabolites in relation to CYP2D6 genotype in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2004-09. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel in GENETICS IN MEDICINE
  • 2015-11-03. Role of SLC22A1 polymorphic variants in drug disposition, therapeutic responses, and drug–drug interactions in THE PHARMACOGENOMICS JOURNAL
  • 2015-06-18. Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1 in GENOME MEDICINE
  • 2016-02-15. NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-021-02385-x

    DOI

    http://dx.doi.org/10.1007/s00439-021-02385-x

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1141916071

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34652573


    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/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1117", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Public Health and Health Services", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cystic Fibrosis Transmembrane Conductance Regulator", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cytochrome P-450 CYP2C19", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cytochrome P-450 CYP2D6", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "HLA-B Antigens", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pharmacogenetics", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Public Health", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Department of Physiology and Pharmacology, Karolinska Institutet, 171 77, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.4714.6", 
              "name": [
                "Department of Physiology and Pharmacology, Karolinska Institutet, 171 77, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Zhou", 
            "givenName": "Yitian", 
            "id": "sg:person.07512240520.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07512240520.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany", 
              "id": "http://www.grid.ac/institutes/grid.502798.1", 
              "name": [
                "Department of Physiology and Pharmacology, Karolinska Institutet, 171 77, Stockholm, Sweden", 
                "Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lauschke", 
            "givenName": "Volker M.", 
            "id": "sg:person.01140607132.36", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01140607132.36"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/tpj.2013.40", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038673967", 
              "https://doi.org/10.1038/tpj.2013.40"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/jhg.2011.77", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041825582", 
              "https://doi.org/10.1038/jhg.2011.77"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5201243", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020938987", 
              "https://doi.org/10.1038/sj.ejhg.5201243"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2016.80", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029199791", 
              "https://doi.org/10.1038/gim.2016.80"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/clpt.2010.320", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036623071", 
              "https://doi.org/10.1038/clpt.2010.320"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41598-021-82477-w", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1135074319", 
              "https://doi.org/10.1038/s41598-021-82477-w"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2326-10-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042944149", 
              "https://doi.org/10.1186/1471-2326-10-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12936-018-2538-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1107865654", 
              "https://doi.org/10.1186/s12936-018-2538-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00228-012-1252-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041505060", 
              "https://doi.org/10.1007/s00228-012-1252-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.2165/00129785-200404060-00006", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021487115", 
              "https://doi.org/10.2165/00129785-200404060-00006"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1208/s12248-017-0161-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1093037536", 
              "https://doi.org/10.1208/s12248-017-0161-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature15393", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021812064", 
              "https://doi.org/10.1038/nature15393"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/tpj.2010.85", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004868987", 
              "https://doi.org/10.1038/tpj.2010.85"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1067/mcp.2002.127396", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014668266", 
              "https://doi.org/10.1067/mcp.2002.127396"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1067/mcp.2001.117445", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042339892", 
              "https://doi.org/10.1067/mcp.2001.117445"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/srep37284", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010602336", 
              "https://doi.org/10.1038/srep37284"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/clpt.2011.56", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002202145", 
              "https://doi.org/10.1038/clpt.2011.56"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1053/cp.1999.v66.100072001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031129256", 
              "https://doi.org/10.1053/cp.1999.v66.100072001"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/tpj.2015.76", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001123772", 
              "https://doi.org/10.1038/tpj.2015.76"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41416-020-01084-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1131157523", 
              "https://doi.org/10.1038/s41416-020-01084-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3508", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013931386", 
              "https://doi.org/10.1038/ng.3508"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/clpt.2013.69", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044968669", 
              "https://doi.org/10.1038/clpt.2013.69"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1475-2875-12-418", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004162306", 
              "https://doi.org/10.1186/1475-2875-12-418"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41525-021-00203-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1138516371", 
              "https://doi.org/10.1038/s41525-021-00203-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-019-02081-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1122286561", 
              "https://doi.org/10.1007/s00439-019-02081-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41598-020-74200-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1131637942", 
              "https://doi.org/10.1038/s41598-020-74200-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3060", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051527727", 
              "https://doi.org/10.1038/ng.3060"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12936-018-2248-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101304962", 
              "https://doi.org/10.1186/s12936-018-2248-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41398-020-01129-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1135658352", 
              "https://doi.org/10.1038/s41398-020-01129-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-010-0879-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022518960", 
              "https://doi.org/10.1007/s00439-010-0879-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10038-008-0294-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010560072", 
              "https://doi.org/10.1007/s10038-008-0294-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41431-019-0480-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1119955114", 
              "https://doi.org/10.1038/s41431-019-0480-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/tpj.2015.78", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047462447", 
              "https://doi.org/10.1038/tpj.2015.78"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/428486a", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011673480", 
              "https://doi.org/10.1038/428486a"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/clpt.2013.105", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013192443", 
              "https://doi.org/10.1038/clpt.2013.105"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12936-018-2271-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1101630286", 
              "https://doi.org/10.1186/s12936-018-2271-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41436-019-0448-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1111950380", 
              "https://doi.org/10.1038/s41436-019-0448-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s002280100282", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016024455", 
              "https://doi.org/10.1007/s002280100282"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s11033-013-2569-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027654122", 
              "https://doi.org/10.1007/s11033-013-2569-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12936-020-03560-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1134414715", 
              "https://doi.org/10.1186/s12936-020-03560-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/clpt.2013.172", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013827901", 
              "https://doi.org/10.1038/clpt.2013.172"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13073-021-00911-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1138520249", 
              "https://doi.org/10.1186/s13073-021-00911-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.2165/00003495-199651040-00004", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020261285", 
              "https://doi.org/10.2165/00003495-199651040-00004"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10038-004-0187-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047022941", 
              "https://doi.org/10.1007/s10038-004-0187-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10038-005-0279-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031766000", 
              "https://doi.org/10.1007/s10038-005-0279-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1475-2875-10-368", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011600959", 
              "https://doi.org/10.1186/1475-2875-10-368"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.tpj.6500285", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010802699", 
              "https://doi.org/10.1038/sj.tpj.6500285"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11147", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021732479", 
              "https://doi.org/10.1038/nature11147"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13073-015-0172-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009206474", 
              "https://doi.org/10.1186/s13073-015-0172-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1016/j.clpt.2005.01.014", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005155472", 
              "https://doi.org/10.1016/j.clpt.2005.01.014"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00216-010-4597-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036780327", 
              "https://doi.org/10.1007/s00216-010-4597-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s11033-013-2971-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003846391", 
              "https://doi.org/10.1007/s11033-013-2971-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/01.gim.0000139506.11694.7c", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010381968", 
              "https://doi.org/10.1097/01.gim.0000139506.11694.7c"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2021-10-15", 
        "datePublishedReg": "2021-10-15", 
        "description": "Both safety and efficacy of medical treatment can vary depending on the ethnogeographic background of the patient. One of the reasons underlying this variability is differences in pharmacogenetic polymorphisms in genes involved in drug disposition, as well as in drug targets. Knowledge and appreciation of these differences is thus essential to optimize population-stratified care. Here, we provide an extensive updated analysis of population pharmacogenomics in ten pharmacokinetic genes (CYP2D6, CYP2C19, DPYD, TPMT, NUDT15 and SLC22A1), drug targets (CFTR) and genes involved in drug hypersensitivity (HLA-A, HLA-B) or drug-induced acute hemolytic anemia (G6PD). Combined, polymorphisms in the analyzed genes affect the pharmacology, efficacy or safety of 141 different drugs and therapeutic regimens. The data reveal pronounced differences in the genetic landscape, complexity and variant frequencies between ethnogeographic groups. Reduced function alleles of CYP2D6, SLC22A1 and CFTR were most prevalent in individuals of European descent, whereas DPYD and TPMT deficiencies were most common in\u00a0Sub-Saharan Africa. Oceanian populations showed the highest frequencies of CYP2C19 loss-of-function alleles while their inferred CYP2D6 activity was among the highest worldwide. Frequencies of HLA-B*15:02 and HLA-B*58:01 were highest across Asia, which has important implications for the risk of severe cutaneous adverse reactions upon treatment with carbamazepine and allopurinol. G6PD deficiencies were most frequent in Africa, the Middle East and Southeast Asia with pronounced differences in variant composition. These variability data provide an important resource to inform cost-effectiveness modeling and guide population-specific genotyping strategies with the goal of optimizing the implementation of precision public health.", 
        "genre": "article", 
        "id": "sg:pub.10.1007/s00439-021-02385-x", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.7107684", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5051199", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.7111348", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.9244464", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.8835102", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1085982", 
            "issn": [
              "0340-6717", 
              "1432-1203"
            ], 
            "name": "Human Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "6", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "141"
          }
        ], 
        "keywords": [
          "precision public health", 
          "severe cutaneous adverse reactions", 
          "cutaneous adverse reactions", 
          "frequency of HLA", 
          "acute hemolytic anemia", 
          "public health", 
          "drug targets", 
          "CYP2C19 loss", 
          "cost-effectiveness modeling", 
          "drug hypersensitivity", 
          "pharmacokinetic genes", 
          "therapeutic regimens", 
          "adverse reactions", 
          "hemolytic anemia", 
          "CYP2D6 activity", 
          "medical treatment", 
          "drug disposition", 
          "pharmacogenetic polymorphisms", 
          "population-specific genotyping strategies", 
          "different drugs", 
          "G6PD deficiency", 
          "TPMT deficiency", 
          "European descent", 
          "HLA", 
          "variant frequency", 
          "efficacy", 
          "genetic landscape", 
          "function alleles", 
          "ethnogeographic groups", 
          "treatment", 
          "Sub-Saharan Africa", 
          "health", 
          "deficiency", 
          "safety", 
          "polymorphism", 
          "regimens", 
          "patients", 
          "differences", 
          "anemia", 
          "high frequency", 
          "allopurinol", 
          "genes", 
          "hypersensitivity", 
          "CYP2D6", 
          "variant composition", 
          "care", 
          "pharmacology", 
          "drugs", 
          "alleles", 
          "DPYD", 
          "carbamazepine", 
          "variability data", 
          "target", 
          "SLC22A1", 
          "pharmacogenomics", 
          "risk", 
          "population pharmacogenomics", 
          "important implications", 
          "frequency", 
          "group", 
          "population", 
          "genotyping strategies", 
          "pronounced differences", 
          "CFTR", 
          "individuals", 
          "disposition", 
          "data", 
          "activity", 
          "background", 
          "update", 
          "loss", 
          "Africa", 
          "Oceanian populations", 
          "Southeast Asia", 
          "descent", 
          "strategies", 
          "reasons", 
          "Middle East", 
          "knowledge", 
          "Asia", 
          "variability", 
          "analysis", 
          "implications", 
          "important resource", 
          "goal", 
          "appreciation", 
          "reaction", 
          "opportunities", 
          "implementation", 
          "composition", 
          "resources", 
          "complexity", 
          "East", 
          "landscape", 
          "modeling"
        ], 
        "name": "Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health", 
        "pagination": "1113-1136", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1141916071"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s00439-021-02385-x"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "34652573"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s00439-021-02385-x", 
          "https://app.dimensions.ai/details/publication/pub.1141916071"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-08-04T17:11", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220804/entities/gbq_results/article/article_915.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1007/s00439-021-02385-x"
      }
    ]
     

    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.10.1007/s00439-021-02385-x'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00439-021-02385-x'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-021-02385-x'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-021-02385-x'


     

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

    417 TRIPLES      21 PREDICATES      180 URIs      119 LITERALS      14 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s00439-021-02385-x schema:about N096e94375d484f76ae24fce1849f7525
    2 N52322d9b92ed49158fd426108b03f6a4
    3 N7a9dbe1b168945d5893c65957a34c72d
    4 Nd4fc98802ea747f88aaa3fc9d56e7142
    5 Nfae2f1e8acb848119f4ea012a3b731fa
    6 Nff1e8b3562784e989ac2167038ed4b80
    7 Nff60e57451c2434aa36291f35d0760e9
    8 anzsrc-for:11
    9 anzsrc-for:1117
    10 schema:author N1a8ba75db63344c2a6943021101f8451
    11 schema:citation sg:pub.10.1007/s00216-010-4597-4
    12 sg:pub.10.1007/s00228-012-1252-3
    13 sg:pub.10.1007/s002280100282
    14 sg:pub.10.1007/s00439-010-0879-3
    15 sg:pub.10.1007/s00439-019-02081-x
    16 sg:pub.10.1007/s10038-004-0187-7
    17 sg:pub.10.1007/s10038-005-0279-z
    18 sg:pub.10.1007/s10038-008-0294-y
    19 sg:pub.10.1007/s11033-013-2569-4
    20 sg:pub.10.1007/s11033-013-2971-y
    21 sg:pub.10.1016/j.clpt.2005.01.014
    22 sg:pub.10.1038/428486a
    23 sg:pub.10.1038/clpt.2010.320
    24 sg:pub.10.1038/clpt.2011.56
    25 sg:pub.10.1038/clpt.2013.105
    26 sg:pub.10.1038/clpt.2013.172
    27 sg:pub.10.1038/clpt.2013.69
    28 sg:pub.10.1038/gim.2016.80
    29 sg:pub.10.1038/jhg.2011.77
    30 sg:pub.10.1038/nature11147
    31 sg:pub.10.1038/nature15393
    32 sg:pub.10.1038/ng.3060
    33 sg:pub.10.1038/ng.3508
    34 sg:pub.10.1038/s41398-020-01129-1
    35 sg:pub.10.1038/s41416-020-01084-0
    36 sg:pub.10.1038/s41431-019-0480-8
    37 sg:pub.10.1038/s41436-019-0448-7
    38 sg:pub.10.1038/s41525-021-00203-x
    39 sg:pub.10.1038/s41598-020-74200-y
    40 sg:pub.10.1038/s41598-021-82477-w
    41 sg:pub.10.1038/sj.ejhg.5201243
    42 sg:pub.10.1038/sj.tpj.6500285
    43 sg:pub.10.1038/srep37284
    44 sg:pub.10.1038/tpj.2010.85
    45 sg:pub.10.1038/tpj.2013.40
    46 sg:pub.10.1038/tpj.2015.76
    47 sg:pub.10.1038/tpj.2015.78
    48 sg:pub.10.1053/cp.1999.v66.100072001
    49 sg:pub.10.1067/mcp.2001.117445
    50 sg:pub.10.1067/mcp.2002.127396
    51 sg:pub.10.1097/01.gim.0000139506.11694.7c
    52 sg:pub.10.1186/1471-2326-10-6
    53 sg:pub.10.1186/1475-2875-10-368
    54 sg:pub.10.1186/1475-2875-12-418
    55 sg:pub.10.1186/s12936-018-2248-y
    56 sg:pub.10.1186/s12936-018-2271-z
    57 sg:pub.10.1186/s12936-018-2538-4
    58 sg:pub.10.1186/s12936-020-03560-7
    59 sg:pub.10.1186/s13073-015-0172-0
    60 sg:pub.10.1186/s13073-021-00911-0
    61 sg:pub.10.1208/s12248-017-0161-x
    62 sg:pub.10.2165/00003495-199651040-00004
    63 sg:pub.10.2165/00129785-200404060-00006
    64 schema:datePublished 2021-10-15
    65 schema:datePublishedReg 2021-10-15
    66 schema:description Both safety and efficacy of medical treatment can vary depending on the ethnogeographic background of the patient. One of the reasons underlying this variability is differences in pharmacogenetic polymorphisms in genes involved in drug disposition, as well as in drug targets. Knowledge and appreciation of these differences is thus essential to optimize population-stratified care. Here, we provide an extensive updated analysis of population pharmacogenomics in ten pharmacokinetic genes (CYP2D6, CYP2C19, DPYD, TPMT, NUDT15 and SLC22A1), drug targets (CFTR) and genes involved in drug hypersensitivity (HLA-A, HLA-B) or drug-induced acute hemolytic anemia (G6PD). Combined, polymorphisms in the analyzed genes affect the pharmacology, efficacy or safety of 141 different drugs and therapeutic regimens. The data reveal pronounced differences in the genetic landscape, complexity and variant frequencies between ethnogeographic groups. Reduced function alleles of CYP2D6, SLC22A1 and CFTR were most prevalent in individuals of European descent, whereas DPYD and TPMT deficiencies were most common in Sub-Saharan Africa. Oceanian populations showed the highest frequencies of CYP2C19 loss-of-function alleles while their inferred CYP2D6 activity was among the highest worldwide. Frequencies of HLA-B*15:02 and HLA-B*58:01 were highest across Asia, which has important implications for the risk of severe cutaneous adverse reactions upon treatment with carbamazepine and allopurinol. G6PD deficiencies were most frequent in Africa, the Middle East and Southeast Asia with pronounced differences in variant composition. These variability data provide an important resource to inform cost-effectiveness modeling and guide population-specific genotyping strategies with the goal of optimizing the implementation of precision public health.
    67 schema:genre article
    68 schema:isAccessibleForFree true
    69 schema:isPartOf N8958d46953694c19835d4d44c1840327
    70 Ne4f0862124ff4f2f9363828bbc459dd4
    71 sg:journal.1085982
    72 schema:keywords Africa
    73 Asia
    74 CFTR
    75 CYP2C19 loss
    76 CYP2D6
    77 CYP2D6 activity
    78 DPYD
    79 East
    80 European descent
    81 G6PD deficiency
    82 HLA
    83 Middle East
    84 Oceanian populations
    85 SLC22A1
    86 Southeast Asia
    87 Sub-Saharan Africa
    88 TPMT deficiency
    89 activity
    90 acute hemolytic anemia
    91 adverse reactions
    92 alleles
    93 allopurinol
    94 analysis
    95 anemia
    96 appreciation
    97 background
    98 carbamazepine
    99 care
    100 complexity
    101 composition
    102 cost-effectiveness modeling
    103 cutaneous adverse reactions
    104 data
    105 deficiency
    106 descent
    107 differences
    108 different drugs
    109 disposition
    110 drug disposition
    111 drug hypersensitivity
    112 drug targets
    113 drugs
    114 efficacy
    115 ethnogeographic groups
    116 frequency
    117 frequency of HLA
    118 function alleles
    119 genes
    120 genetic landscape
    121 genotyping strategies
    122 goal
    123 group
    124 health
    125 hemolytic anemia
    126 high frequency
    127 hypersensitivity
    128 implementation
    129 implications
    130 important implications
    131 important resource
    132 individuals
    133 knowledge
    134 landscape
    135 loss
    136 medical treatment
    137 modeling
    138 opportunities
    139 patients
    140 pharmacogenetic polymorphisms
    141 pharmacogenomics
    142 pharmacokinetic genes
    143 pharmacology
    144 polymorphism
    145 population
    146 population pharmacogenomics
    147 population-specific genotyping strategies
    148 precision public health
    149 pronounced differences
    150 public health
    151 reaction
    152 reasons
    153 regimens
    154 resources
    155 risk
    156 safety
    157 severe cutaneous adverse reactions
    158 strategies
    159 target
    160 therapeutic regimens
    161 treatment
    162 update
    163 variability
    164 variability data
    165 variant composition
    166 variant frequency
    167 schema:name Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health
    168 schema:pagination 1113-1136
    169 schema:productId N33a129a5e39743429165efd827ba3888
    170 N58d704ab21b1496ca3dd21ebac2741fe
    171 N6068dc69c3d2401eada47a1d8bd7c313
    172 schema:sameAs https://app.dimensions.ai/details/publication/pub.1141916071
    173 https://doi.org/10.1007/s00439-021-02385-x
    174 schema:sdDatePublished 2022-08-04T17:11
    175 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    176 schema:sdPublisher N638eb309992d4f36affa693e8a02bb7f
    177 schema:url https://doi.org/10.1007/s00439-021-02385-x
    178 sgo:license sg:explorer/license/
    179 sgo:sdDataset articles
    180 rdf:type schema:ScholarlyArticle
    181 N096e94375d484f76ae24fce1849f7525 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    182 schema:name Public Health
    183 rdf:type schema:DefinedTerm
    184 N0d2638956eca4ebdadc1ac6fdfa1a6cd rdf:first sg:person.01140607132.36
    185 rdf:rest rdf:nil
    186 N1a8ba75db63344c2a6943021101f8451 rdf:first sg:person.07512240520.15
    187 rdf:rest N0d2638956eca4ebdadc1ac6fdfa1a6cd
    188 N33a129a5e39743429165efd827ba3888 schema:name doi
    189 schema:value 10.1007/s00439-021-02385-x
    190 rdf:type schema:PropertyValue
    191 N52322d9b92ed49158fd426108b03f6a4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    192 schema:name Cytochrome P-450 CYP2D6
    193 rdf:type schema:DefinedTerm
    194 N58d704ab21b1496ca3dd21ebac2741fe schema:name dimensions_id
    195 schema:value pub.1141916071
    196 rdf:type schema:PropertyValue
    197 N6068dc69c3d2401eada47a1d8bd7c313 schema:name pubmed_id
    198 schema:value 34652573
    199 rdf:type schema:PropertyValue
    200 N638eb309992d4f36affa693e8a02bb7f schema:name Springer Nature - SN SciGraph project
    201 rdf:type schema:Organization
    202 N7a9dbe1b168945d5893c65957a34c72d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    203 schema:name Cytochrome P-450 CYP2C19
    204 rdf:type schema:DefinedTerm
    205 N8958d46953694c19835d4d44c1840327 schema:volumeNumber 141
    206 rdf:type schema:PublicationVolume
    207 Nd4fc98802ea747f88aaa3fc9d56e7142 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    208 schema:name Humans
    209 rdf:type schema:DefinedTerm
    210 Ne4f0862124ff4f2f9363828bbc459dd4 schema:issueNumber 6
    211 rdf:type schema:PublicationIssue
    212 Nfae2f1e8acb848119f4ea012a3b731fa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    213 schema:name HLA-B Antigens
    214 rdf:type schema:DefinedTerm
    215 Nff1e8b3562784e989ac2167038ed4b80 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    216 schema:name Cystic Fibrosis Transmembrane Conductance Regulator
    217 rdf:type schema:DefinedTerm
    218 Nff60e57451c2434aa36291f35d0760e9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    219 schema:name Pharmacogenetics
    220 rdf:type schema:DefinedTerm
    221 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    222 schema:name Medical and Health Sciences
    223 rdf:type schema:DefinedTerm
    224 anzsrc-for:1117 schema:inDefinedTermSet anzsrc-for:
    225 schema:name Public Health and Health Services
    226 rdf:type schema:DefinedTerm
    227 sg:grant.5051199 http://pending.schema.org/fundedItem sg:pub.10.1007/s00439-021-02385-x
    228 rdf:type schema:MonetaryGrant
    229 sg:grant.7107684 http://pending.schema.org/fundedItem sg:pub.10.1007/s00439-021-02385-x
    230 rdf:type schema:MonetaryGrant
    231 sg:grant.7111348 http://pending.schema.org/fundedItem sg:pub.10.1007/s00439-021-02385-x
    232 rdf:type schema:MonetaryGrant
    233 sg:grant.8835102 http://pending.schema.org/fundedItem sg:pub.10.1007/s00439-021-02385-x
    234 rdf:type schema:MonetaryGrant
    235 sg:grant.9244464 http://pending.schema.org/fundedItem sg:pub.10.1007/s00439-021-02385-x
    236 rdf:type schema:MonetaryGrant
    237 sg:journal.1085982 schema:issn 0340-6717
    238 1432-1203
    239 schema:name Human Genetics
    240 schema:publisher Springer Nature
    241 rdf:type schema:Periodical
    242 sg:person.01140607132.36 schema:affiliation grid-institutes:grid.502798.1
    243 schema:familyName Lauschke
    244 schema:givenName Volker M.
    245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01140607132.36
    246 rdf:type schema:Person
    247 sg:person.07512240520.15 schema:affiliation grid-institutes:grid.4714.6
    248 schema:familyName Zhou
    249 schema:givenName Yitian
    250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07512240520.15
    251 rdf:type schema:Person
    252 sg:pub.10.1007/s00216-010-4597-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036780327
    253 https://doi.org/10.1007/s00216-010-4597-4
    254 rdf:type schema:CreativeWork
    255 sg:pub.10.1007/s00228-012-1252-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041505060
    256 https://doi.org/10.1007/s00228-012-1252-3
    257 rdf:type schema:CreativeWork
    258 sg:pub.10.1007/s002280100282 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016024455
    259 https://doi.org/10.1007/s002280100282
    260 rdf:type schema:CreativeWork
    261 sg:pub.10.1007/s00439-010-0879-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022518960
    262 https://doi.org/10.1007/s00439-010-0879-3
    263 rdf:type schema:CreativeWork
    264 sg:pub.10.1007/s00439-019-02081-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1122286561
    265 https://doi.org/10.1007/s00439-019-02081-x
    266 rdf:type schema:CreativeWork
    267 sg:pub.10.1007/s10038-004-0187-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047022941
    268 https://doi.org/10.1007/s10038-004-0187-7
    269 rdf:type schema:CreativeWork
    270 sg:pub.10.1007/s10038-005-0279-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1031766000
    271 https://doi.org/10.1007/s10038-005-0279-z
    272 rdf:type schema:CreativeWork
    273 sg:pub.10.1007/s10038-008-0294-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1010560072
    274 https://doi.org/10.1007/s10038-008-0294-y
    275 rdf:type schema:CreativeWork
    276 sg:pub.10.1007/s11033-013-2569-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027654122
    277 https://doi.org/10.1007/s11033-013-2569-4
    278 rdf:type schema:CreativeWork
    279 sg:pub.10.1007/s11033-013-2971-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1003846391
    280 https://doi.org/10.1007/s11033-013-2971-y
    281 rdf:type schema:CreativeWork
    282 sg:pub.10.1016/j.clpt.2005.01.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005155472
    283 https://doi.org/10.1016/j.clpt.2005.01.014
    284 rdf:type schema:CreativeWork
    285 sg:pub.10.1038/428486a schema:sameAs https://app.dimensions.ai/details/publication/pub.1011673480
    286 https://doi.org/10.1038/428486a
    287 rdf:type schema:CreativeWork
    288 sg:pub.10.1038/clpt.2010.320 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036623071
    289 https://doi.org/10.1038/clpt.2010.320
    290 rdf:type schema:CreativeWork
    291 sg:pub.10.1038/clpt.2011.56 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002202145
    292 https://doi.org/10.1038/clpt.2011.56
    293 rdf:type schema:CreativeWork
    294 sg:pub.10.1038/clpt.2013.105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013192443
    295 https://doi.org/10.1038/clpt.2013.105
    296 rdf:type schema:CreativeWork
    297 sg:pub.10.1038/clpt.2013.172 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013827901
    298 https://doi.org/10.1038/clpt.2013.172
    299 rdf:type schema:CreativeWork
    300 sg:pub.10.1038/clpt.2013.69 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044968669
    301 https://doi.org/10.1038/clpt.2013.69
    302 rdf:type schema:CreativeWork
    303 sg:pub.10.1038/gim.2016.80 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029199791
    304 https://doi.org/10.1038/gim.2016.80
    305 rdf:type schema:CreativeWork
    306 sg:pub.10.1038/jhg.2011.77 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041825582
    307 https://doi.org/10.1038/jhg.2011.77
    308 rdf:type schema:CreativeWork
    309 sg:pub.10.1038/nature11147 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021732479
    310 https://doi.org/10.1038/nature11147
    311 rdf:type schema:CreativeWork
    312 sg:pub.10.1038/nature15393 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021812064
    313 https://doi.org/10.1038/nature15393
    314 rdf:type schema:CreativeWork
    315 sg:pub.10.1038/ng.3060 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051527727
    316 https://doi.org/10.1038/ng.3060
    317 rdf:type schema:CreativeWork
    318 sg:pub.10.1038/ng.3508 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013931386
    319 https://doi.org/10.1038/ng.3508
    320 rdf:type schema:CreativeWork
    321 sg:pub.10.1038/s41398-020-01129-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1135658352
    322 https://doi.org/10.1038/s41398-020-01129-1
    323 rdf:type schema:CreativeWork
    324 sg:pub.10.1038/s41416-020-01084-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1131157523
    325 https://doi.org/10.1038/s41416-020-01084-0
    326 rdf:type schema:CreativeWork
    327 sg:pub.10.1038/s41431-019-0480-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1119955114
    328 https://doi.org/10.1038/s41431-019-0480-8
    329 rdf:type schema:CreativeWork
    330 sg:pub.10.1038/s41436-019-0448-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1111950380
    331 https://doi.org/10.1038/s41436-019-0448-7
    332 rdf:type schema:CreativeWork
    333 sg:pub.10.1038/s41525-021-00203-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1138516371
    334 https://doi.org/10.1038/s41525-021-00203-x
    335 rdf:type schema:CreativeWork
    336 sg:pub.10.1038/s41598-020-74200-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1131637942
    337 https://doi.org/10.1038/s41598-020-74200-y
    338 rdf:type schema:CreativeWork
    339 sg:pub.10.1038/s41598-021-82477-w schema:sameAs https://app.dimensions.ai/details/publication/pub.1135074319
    340 https://doi.org/10.1038/s41598-021-82477-w
    341 rdf:type schema:CreativeWork
    342 sg:pub.10.1038/sj.ejhg.5201243 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020938987
    343 https://doi.org/10.1038/sj.ejhg.5201243
    344 rdf:type schema:CreativeWork
    345 sg:pub.10.1038/sj.tpj.6500285 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010802699
    346 https://doi.org/10.1038/sj.tpj.6500285
    347 rdf:type schema:CreativeWork
    348 sg:pub.10.1038/srep37284 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010602336
    349 https://doi.org/10.1038/srep37284
    350 rdf:type schema:CreativeWork
    351 sg:pub.10.1038/tpj.2010.85 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004868987
    352 https://doi.org/10.1038/tpj.2010.85
    353 rdf:type schema:CreativeWork
    354 sg:pub.10.1038/tpj.2013.40 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038673967
    355 https://doi.org/10.1038/tpj.2013.40
    356 rdf:type schema:CreativeWork
    357 sg:pub.10.1038/tpj.2015.76 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001123772
    358 https://doi.org/10.1038/tpj.2015.76
    359 rdf:type schema:CreativeWork
    360 sg:pub.10.1038/tpj.2015.78 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047462447
    361 https://doi.org/10.1038/tpj.2015.78
    362 rdf:type schema:CreativeWork
    363 sg:pub.10.1053/cp.1999.v66.100072001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031129256
    364 https://doi.org/10.1053/cp.1999.v66.100072001
    365 rdf:type schema:CreativeWork
    366 sg:pub.10.1067/mcp.2001.117445 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042339892
    367 https://doi.org/10.1067/mcp.2001.117445
    368 rdf:type schema:CreativeWork
    369 sg:pub.10.1067/mcp.2002.127396 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014668266
    370 https://doi.org/10.1067/mcp.2002.127396
    371 rdf:type schema:CreativeWork
    372 sg:pub.10.1097/01.gim.0000139506.11694.7c schema:sameAs https://app.dimensions.ai/details/publication/pub.1010381968
    373 https://doi.org/10.1097/01.gim.0000139506.11694.7c
    374 rdf:type schema:CreativeWork
    375 sg:pub.10.1186/1471-2326-10-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042944149
    376 https://doi.org/10.1186/1471-2326-10-6
    377 rdf:type schema:CreativeWork
    378 sg:pub.10.1186/1475-2875-10-368 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011600959
    379 https://doi.org/10.1186/1475-2875-10-368
    380 rdf:type schema:CreativeWork
    381 sg:pub.10.1186/1475-2875-12-418 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004162306
    382 https://doi.org/10.1186/1475-2875-12-418
    383 rdf:type schema:CreativeWork
    384 sg:pub.10.1186/s12936-018-2248-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1101304962
    385 https://doi.org/10.1186/s12936-018-2248-y
    386 rdf:type schema:CreativeWork
    387 sg:pub.10.1186/s12936-018-2271-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1101630286
    388 https://doi.org/10.1186/s12936-018-2271-z
    389 rdf:type schema:CreativeWork
    390 sg:pub.10.1186/s12936-018-2538-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1107865654
    391 https://doi.org/10.1186/s12936-018-2538-4
    392 rdf:type schema:CreativeWork
    393 sg:pub.10.1186/s12936-020-03560-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1134414715
    394 https://doi.org/10.1186/s12936-020-03560-7
    395 rdf:type schema:CreativeWork
    396 sg:pub.10.1186/s13073-015-0172-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009206474
    397 https://doi.org/10.1186/s13073-015-0172-0
    398 rdf:type schema:CreativeWork
    399 sg:pub.10.1186/s13073-021-00911-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1138520249
    400 https://doi.org/10.1186/s13073-021-00911-0
    401 rdf:type schema:CreativeWork
    402 sg:pub.10.1208/s12248-017-0161-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1093037536
    403 https://doi.org/10.1208/s12248-017-0161-x
    404 rdf:type schema:CreativeWork
    405 sg:pub.10.2165/00003495-199651040-00004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020261285
    406 https://doi.org/10.2165/00003495-199651040-00004
    407 rdf:type schema:CreativeWork
    408 sg:pub.10.2165/00129785-200404060-00006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021487115
    409 https://doi.org/10.2165/00129785-200404060-00006
    410 rdf:type schema:CreativeWork
    411 grid-institutes:grid.4714.6 schema:alternateName Department of Physiology and Pharmacology, Karolinska Institutet, 171 77, Stockholm, Sweden
    412 schema:name Department of Physiology and Pharmacology, Karolinska Institutet, 171 77, Stockholm, Sweden
    413 rdf:type schema:Organization
    414 grid-institutes:grid.502798.1 schema:alternateName Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany
    415 schema:name Department of Physiology and Pharmacology, Karolinska Institutet, 171 77, Stockholm, Sweden
    416 Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany
    417 rdf:type schema:Organization
     




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


    ...