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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.

  • Author(s): Kuo, Jane Z
  • Sheu, Wayne Huey-Herng
  • Assimes, Themistocles L
  • Hung, Yi-Jen
  • Absher, Devin
  • Chiu, Yen-Feng
  • Mak, Jordan
  • Wang, Jun-Sing
  • Kwon, Soonil
  • Hsu, Chih-Cheng
  • Goodarzi, Mark O
  • Lee, I-Te
  • Knowles, Joshua W
  • Miller, Brittany E
  • Lee, Wen-Jane
  • Juang, Jyh-Ming J
  • Wang, Tzung-Dau
  • Guo, Xiuqing
  • Taylor, Kent D
  • Chuang, Lee-Ming
  • Hsiung, Chao A
  • Quertermous, Thomas
  • Rotter, Jerome I
  • Chen, Yii-Der I
  • et al.

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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.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 × 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.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.

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