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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Published version
Peer-reviewed

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Authors

Flannick, Jason 
Fuchsberger, Christian 
Mahajan, Anubha 
Teslovich, Tanya M 
Agarwala, Vineeta 

Abstract

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

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Keywords

Diabetes Mellitus, Type 2, Genetic Variation, Humans, White People

Journal Title

Sci Data

Conference Name

Journal ISSN

2052-4463
2052-4463

Volume Title

4

Publisher

Springer Science and Business Media LLC
Sponsorship
Medical Research Council (MC_UU_12015/1)
Department of Health (via National Institute for Health Research (NIHR)) (NF-SI-0512-10135)
Medical Research Council (MC_UU_12015/2)
Medical Research Council (MR/L003120/1)
National Institutes of Health (NIH) (via University of Oxford) (NIH R13579/CN038)
British Heart Foundation (None)