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

Sci Data
Authors
Keywords
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.

Year of Publication
2017
Journal
Sci Data
Volume
4
Pages
170179
Date Published
2017 12 19
ISSN
2052-4463
DOI
10.1038/sdata.2017.179
PubMed ID
29257133
PubMed Central ID
PMC5735917
Links
Grant list
R01 DK093757 / DK / NIDDK NIH HHS / United States
MR/K002414/1 / Medical Research Council / United Kingdom
U01 DK085524 / DK / NIDDK NIH HHS / United States
R01 DK106236 / DK / NIDDK NIH HHS / United States
G0700931 / Medical Research Council / United Kingdom
RG/08/014/24067 / British Heart Foundation / United Kingdom
R01 DK072193 / DK / NIDDK NIH HHS / United States
MR/L01632X/1 / Medical Research Council / United Kingdom
F32 DK079466 / DK / NIDDK NIH HHS / United States
MR/L01341X/1 / Medical Research Council / United Kingdom
MR/L003120/1 / Medical Research Council / United Kingdom
S10 OD018522 / OD / NIH HHS / United States
G0601966 / Medical Research Council / United Kingdom
MC_UU_12015/1 / Medical Research Council / United Kingdom
R01 DK101478 / DK / NIDDK NIH HHS / United States
MC_UU_12015/2 / Medical Research Council / United Kingdom
K24 DK080140 / DK / NIDDK NIH HHS / United States
P30 DK020541 / DK / NIDDK NIH HHS / United States
MR/M501633/2 / Medical Research Council / United Kingdom
U01 DK078616 / DK / NIDDK NIH HHS / United States
P30 AG038072 / AG / NIA NIH HHS / United States
R01 DK107904 / DK / NIDDK NIH HHS / United States
P30 DK020572 / DK / NIDDK NIH HHS / United States
RG/14/5/30893 / British Heart Foundation / United Kingdom
MR/K007017/1 / Medical Research Council / United Kingdom
MC_PC_13040 / Medical Research Council / United Kingdom
T32 HL007055 / HL / NHLBI NIH HHS / United States
G0601261 / Medical Research Council / United Kingdom
U54 GM115428 / GM / NIGMS NIH HHS / United States
P30 DK020595 / DK / NIDDK NIH HHS / United States
MR/M501633/1 / Medical Research Council / United Kingdom
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