ArticleNature communications2018
Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 76 papers, 7 of them syntheses that pooled it.
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76citing papers in PubMed, 7 pooled it
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Who cites it
76 citing papers in PubMed, 7 syntheses or guidelines pooled it, 147 citations in OpenAlex.
- Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations.Diabetes care · 2023Pooled it
- Mendelian randomization indicates a causal contribution of type 2 diabetes to retinal vein occlusion.Frontiers in endocrinology · 2023Pooled it
- Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes.Diabetes · 2022Pooled it
- TIGER: The gene expression regulatory variation landscape of human pancreatic islets.Cell reports · 2021Pooled it
- Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.Nature genetics · 2020Pooled it
- Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.Nature genetics · 2019Pooled it
- Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus.Arthritis research & therapy · 2018Pooled it
- The causal association between systolic blood pressure and breast cancer: a two sample Mendelian randomization study.BMC cancer · 2026Article
- Genotype subtyping approach to identify unnoticed variants in diseases from GWAS data.BioData mining · 2026Article
- Linking the plasma proteome to genetics in individuals from continental Africa provides insights into type 2 diabetes pathogenesis.Nature genetics · 2026Article
- Causal effects of the gut microbiota, circulating metabolites, and cardiometabolic diseases: A Mendelian randomization study.Medicine · 2025Article
- Identification of novel type 1 and type 2 diabetes genes by co-localization of human islet eQTL and GWAS variants with colocRedRibbon.Cell genomics · 2025Article
- Molecular Mechanisms of Human Pancreatic Islet Dysfunction Under Overnutrition Metabolic Stress.Diabetes · 2025Article
- Article
- Mendelian randomization study reveals the causal effect of sex hormone binding globulin on osteoporosis.BMC musculoskeletal disorders · 2025Article
- Exploring the mediating role of thyroid function in the effect of celiac disease on osteoporosis: A Mendelian randomization study.Medicine · 2025Article
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- Data accessibility in the chemical sciences: an analysis of recent practice in organic chemistry journals.Beilstein journal of organic chemistry · 2025Article
- Multivariable MR Can Mitigate Bias in Two-Sample MR Using Covariable-Adjusted Summary Associations.Genetic epidemiology · 2025Article
- Identifying X-chromosome variants associated with age-related macular degeneration.Human molecular genetics · 2024Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
43 authors at 14 institutions in 4 countries.
Sílvia Bonàs-GuarchBarcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain.ORCID http://orcid.org/0000-0002-2085-7488
Marta Guindo-MartínezBarcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain.ORCID http://orcid.org/0000-0002-8099-9170
Irene Miguel-EscaladaGenomic Programming of Beta-cells Laboratory, Institut d'Investigacions August Pi i Sunyer (IDIBAPS), 08036, Barcelona, Spain.ORCID http://orcid.org/0000-0003-3461-6404
Niels GrarupThe Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-5526-1070
David SebastianInstituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), 28029, Madrid, Spain.
Elias Rodriguez-FosBarcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain.ORCID http://orcid.org/0000-0002-2555-0178
Friman SánchezBarcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain.
Mercè Planas-FèlixBarcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain.ORCID http://orcid.org/0000-0002-8267-576X
Paula Cortes-SánchezBarcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain.
Santi GonzálezBarcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain.ORCID http://orcid.org/0000-0001-5685-4580
Pascal TimshelThe Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.
Tune H PersThe Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.
Claire C MorganSection of Epigenomics and Disease, Department of Medicine, Imperial College London, London, W12 0NN, UK.ORCID http://orcid.org/0000-0002-8191-3738
Ignasi MoranSection of Epigenomics and Disease, Department of Medicine, Imperial College London, London, W12 0NN, UK.ORCID http://orcid.org/0000-0002-3307-7106
Goutham AtlaGenomic Programming of Beta-cells Laboratory, Institut d'Investigacions August Pi i Sunyer (IDIBAPS), 08036, Barcelona, Spain.
Juan R GonzálezISGlobal, Centre for Research in Environmental Epidemiology (CREAL), 08003, Barcelona, Spain.
Montserrat PuiggrosBarcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain.ORCID http://orcid.org/0000-0001-5034-7924
Jonathan MartíComputer Sciences Department, Barcelona Supercomputing Center (BSC-CNS), 08034, Barcelona, Spain.
Ehm A AnderssonThe Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.
Carlos DíazComputer Sciences Department, Barcelona Supercomputing Center (BSC-CNS), 08034, Barcelona, Spain.
Rosa M BadiaComputer Sciences Department, Barcelona Supercomputing Center (BSC-CNS), 08034, Barcelona, Spain.
Miriam UdlerPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.
Aaron LeongDiabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Varindepal KaurDiabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Jason FlannickPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.
Torben JørgensenResearch Centre for Prevention and Health, Capital Region of Denmark, DK-2600, Glostrup, Denmark.
Allan LinnebergResearch Centre for Prevention and Health, Capital Region of Denmark, DK-2600, Glostrup, Denmark.ORCID http://orcid.org/0000-0002-0994-0184
Marit E JørgensenSteno Diabetes Center, 2820, Gentofte, Denmark.ORCID http://orcid.org/0000-0001-8356-5565
Daniel R WitteDepartment of Public Health, Aarhus University, DK-8000, Aarhus C, Denmark.
Cramer ChristensenMedical department, Lillebaelt Hospital, 7100, Vejle, Denmark.
Ivan BrandslundDepartment of Clinical Biochemistry, Lillebaelt Hospital, 7100, Vejle, Denmark.
Emil V AppelThe Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.
Robert A ScottMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
Jian'an LuanMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
Claudia LangenbergMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
Nicholas J WarehamMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
Oluf PedersenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.
Antonio ZorzanoInstituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), 28029, Madrid, Spain.
Jose C FlorezPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.
Torben HansenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Section for Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100, Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-8748-3831
Jorge FerrerGenomic Programming of Beta-cells Laboratory, Institut d'Investigacions August Pi i Sunyer (IDIBAPS), 08036, Barcelona, Spain.ORCID http://orcid.org/0000-0002-5959-5729
Josep Maria MercaderBarcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain. mercader@broadinstitute.org.ORCID http://orcid.org/0000-0001-8494-3660
David TorrentsBarcelona Supercomputing Center (BSC), Joint BSC-CRG-IRB Research Program in Computational Biology, 08034, Barcelona, Spain. david.torrents@bsc.es.ORCID http://orcid.org/0000-0002-6086-9037
Barcelona Supercomputing Center · ESUniversity of Copenhagen · DKInstituto de Salud Carlos III · ESBroad Institute · USUniversity of Cambridge · GBImperial College London · GBMassachusetts General Hospital · USStatens Serum Institut · DKAarhus University · DKInstitució Catalana de Recerca i Estudis Avançats · ESLillebaelt Hospital · DKSteno Diabetes Centers · DKUniversitat Pompeu Fabra · ESUniversity of Southern Denmark · DK
Funding
Medical Research Council MC_UU_12015/1Medical Research Council MR/L02036X/1Wellcome Trust
Abstract
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 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.
Indexed as
Genome-Wide Association StudyPolymorphism, Single NucleotideAllelesChromosomes, Human, XGene Regulatory NetworksGenetic Predisposition to DiseaseGenotypeHumansInsulin ResistanceMaleModels, GeneticRisk Factors
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