Type 2 diabetes is a rapidly increasing chronic metabolic
disorder which can be prevented by screening and intervention in high risk
group. Confirmed common genetic variants have low effect size
of less than 1.5 and only explains about 10% of the heritability. In
contrast, rare and functional genetic variants might to have higher effect size
and explain a larger proportion of heritability.
In this
context, we performed a two staged whole
exome sequencing and exome genotyping array analysis in a total of 3,964 type 2 diabetes and control subjects. In the
first stage, whole exome sequencing was performed in
917 cases and controls. Variants identified through exome sequencing was incorporated into the
semi-customized exome genotyping array (Axiom Biobank Plus). In the second stage, the array was used for
genotyping in 3,047 cases and controls.
A total of 640,374 variants were identified from whole exome
sequencing of 917 subjects. Variants that showed association with diabetes
(P<0.05) or predicted to be altering protein function (144,658) were
included in exome genotyping array analysis. The
array also included 246,000 predesigned common variants that had genome-wide
coverage. The variant information including its frequency and association with
diabetes are displayed in this web based database in order to facilitate other
researcher's collaboration.
Basic information on genetic variants
including chromosome position, reference allele, alternative allele, allele
frequency, and association testing results for type 2
diabetes in Koreans are displayed. This project was supported by a grant
of the Korea Health Technology R&D Project, Ministry of Health &
Welfare, Republic of Korea (HI14C0060). For further information, please
contact: diabetes dot genes at gmail dot com.