國家衛生研究院 NHRI:Item 3990099045/7497
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    题名: 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
    作者: Kuo, JZ;Sheu, WHH;Assimes, TL;Hung, YJ;Absher, D;Chiu, YF;Mak, J;Wang, JS;Kwon, S;Hsu, CC;Goodarzi, MO;Lee, IT;Knowles, JW;Miller, BE;Lee, WJ;Juang, JMJ;Wang, TD;Guo, X;Taylor, KD;Chuang, LM;Hsiung, CA;Quertermous, T;Rotter, JI;Chen, YDI
    贡献者: Division of Biostatistics and Bioinformatics;Division of Geriatric Research
    摘要: Aims/hypothesis: Candidate gene and genome-wide association studies have identified ∼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. Methods: 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. Results: We found that 14 loci significantly transferred to the Chinese population, with two loci (p = 5.7 × 10-12 for KCNQ1; p = 5.0 × 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. Conclusions/interpretation: 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.
    日期: 2013-12
    關聯: Diabetologia. 2013 Dec;56(12):2619-2628.
    Link to: http://dx.doi.org/10.1007/s00125-013-3047-1
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0012-186X&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000326599300010
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84887988558
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