|Title:||Trans-ethnic fine mapping identifies a novel independent locus at the 3 ' end of CDKAL1 and novel variants of several susceptibility loci for type 2 diabetes in a Han Chinese population||Authors:||Kuo, Jane Z.
Sheu, Wayne Huey-Herng
Assimes, Themistocles L.
Goodarzi, Mark O.
Knowles, Joshua W.
Miller, Brittany E.
Juang, Jyh-Ming J.
Taylor, Kent D.
Hsiung, Chao A.
Rotter, Jerome I.
Chen, Yii-Der I.
|Keywords:||Ethnic difference;Genetic association;Type 2 diabetes||Issue Date:||2013||Source:||Diabetologia||Journal Volume:||56||Journal Issue:||12||Start page/Pages:||2619-2628||Abstract:||
Candidate gene and genome-wide association studies have identified similar to 60 susceptibility loci for type 2 diabetes. A majority of these loci have been discovered and tested only in European populations. The aim of this study was to assess the presence and extent of trans-ethnic effects of these loci in an East Asian population.
A total of 9,335 unrelated Chinese Han individuals, including 4,535 with type 2 diabetes and 4,800 non-diabetic ethnically matched controls, were genotyped using the Illumina 200K Metabochip. We tested 50 established loci for type 2 diabetes and related traits (fasting glucose, fasting insulin, 2 h glucose). Disease association with the additive model of inheritance was analysed with logistic regression.
We found that 14 loci significantly transferred to the Chinese population, with two loci (p = 5.7 x 10(-12) for KCNQ1; p = 5.0 x 10(-8) for CDKN2A/B-CDKN2BAS) reaching independent genome-wide statistical significance. Five of these 14 loci had similar lead single-nucleotide polymorphisms (SNPs) as were found in the European studies while the other nine were different. Further stepwise conditional analysis identified a total of seven secondary signals and an independent novel locus at the 3' end of CDKAL1.
These results suggest that many loci associated with type 2 diabetes are commonly shared between European and Chinese populations. Identification of population-specific SNPs may increase our understanding of the genetic architecture underlying type 2 diabetes in different ethnic populations.
|Appears in Collections:||醫學系|
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