bioRxiv (Cold Spring Harbor Laboratory) · 2020 · 10 citations · 73 references
Life SciencesEndocrinologyGeneticsGenomicsHuman GeneticsMedical GeneticsDiabetes MellitusDisease Susceptibility LociGenetic Fine-mappingGenome-wide Association StudiesGenotype-phenotype Association AnalysisCardiometabolic DiseaseDiabetes Mellitus PathophysiologyGenome-wide Association MappingGenome-wide Association Study Fine-mappingHuman AncestryMeta-analysis Of Genetic StudiesTrait Loci DiscoveryType 2 Diabetes Pathophysiology
Abstract Glycaemic traits are used to diagnose and monitor type 2 diabetes, and cardiometabolic health. To date, most genetic studies of glycaemic traits have focused on individuals of European ancestry. Here, we aggregated genome-wide association studies in up to 281,416 individuals without diabetes (30% non-European ancestry) with fasting glucose, 2h-glucose post-challenge, glycated haemoglobin, and fasting insulin data. Trans-ancestry and single-ancestry meta-analyses identified 242 loci (99 novel; P <5×10 -8 ), 80% with no significant evidence of between-ancestry heterogeneity. Analyses restricted to European ancestry individuals with equivalent sample size would have led to 24 fewer new loci. Compared to single-ancestry, equivalent sized trans-ancestry fine-mapping reduced the number of estimated variants in 99% credible sets by a median of 37.5%. Genomic feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways. Our results increase understanding of diabetes pathophysiology by use of trans-ancestry studies for improved power and resolution.
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