A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.
Abstract
To investigate the underlying mechanisms of T2D pathogenesis, we looked for diabetes
susceptibility genes that increase the risk of type 2 diabetes (T2D) in a Han Chinese
population. A two-stage genome-wide association (GWA) study was conducted, in which
995 patients and 894 controls were genotyped using the Illumina HumanHap550-Duo BeadChip
for the first genome scan stage. This was further replicated in 1,803 patients and
1,473 controls in stage 2. We found two loci not previously associated with diabetes
susceptibility in and around the genes protein tyrosine phosphatase receptor type
D (PTPRD) (P = 8.54x10(-10); odds ratio [OR] = 1.57; 95% confidence interval [CI]
= 1.36-1.82), and serine racemase (SRR) (P = 3.06x10(-9); OR = 1.28; 95% CI = 1.18-1.39).
We also confirmed that variants in KCNQ1 were associated with T2D risk, with the strongest
signal at rs2237895 (P = 9.65x10(-10); OR = 1.29, 95% CI = 1.19-1.40). By identifying
two novel genetic susceptibility loci in a Han Chinese population and confirming the
involvement of KCNQ1, which was previously reported to be associated with T2D in Japanese
and European descent populations, our results may lead to a better understanding of
differences in the molecular pathogenesis of T2D among various populations.
Type
Journal articleSubject
AdultAsian Continental Ancestry Group
Case-Control Studies
China
Diabetes Mellitus, Type 2
Ethnic Groups
Female
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
KCNQ1 Potassium Channel
Male
Polymorphism, Single Nucleotide
Reproducibility of Results
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https://hdl.handle.net/10161/4464Published Version (Please cite this version)
10.1371/journal.pgen.1000847Publication Info
Tsai, Fuu-Jen; Yang, Chi-Fan; Chen, Ching-Chu; Chuang, Lee-Ming; Lu, Chieh-Hsiang;
Chang, Chwen-Tzuei; ... Wu, Jer-Yuarn (2010). A genome-wide association study identifies susceptibility variants for type 2 diabetes
in Han Chinese. PLoS Genet, 6(2). pp. e1000847. 10.1371/journal.pgen.1000847. Retrieved from https://hdl.handle.net/10161/4464.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Yuan-Tsong Chen
Professor Emeritus of Pediatrics
Our overall research interests are in translational research. We aim at translating
the promise of genomic medicine into clinical reality. Specific projects at present
time include: 1). Identification of novel genes/targets associated with human diseases.
This includes susceptibility genes for common multi-factorial diseases and adverse
drug reactions. Genetic epidemiology, mouse ENU mutagenesis, bioinformatics and proteomics
are some approaches that we use in identif

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