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Journal of Diabetes Research
Volume 2015, Article ID 613236, 7 pages
Research Article

Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China

1Inner Mongolia University for the Nationalities, Tongliao, Inner Mongolia 028000, China
2BGI-Shenzhen, Shenzhen 518083, China
3Department of Biology, University of Copenhagen, 2100 Copenhagen, Denmark
4The Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences (SB RAS), Novosibirsk 630090, Russia
5Novosibirsk State University, Novosibirsk 630090, Russia
6College of Animal Science and Technology, Northeast Agricultural University, Harbin 150030, China
7Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

Received 7 February 2015; Revised 22 June 2015; Accepted 24 June 2015

Academic Editor: Andrea Tura

Copyright © 2015 Haihua Bai et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The large scale genome wide association studies (GWAS) have identified approximately 80 single nucleotide polymorphisms (SNPs) conferring susceptibility to type 2 diabetes (T2D). However, most of these loci have not been replicated in diverse populations and much genetic heterogeneity has been observed across ethnic groups. We tested 28 SNPs previously found to be associated with T2D by GWAS in a Mongolian sample of Northern China (497 diagnosed with T2D and 469 controls) for association with T2D and diabetes related quantitative traits. We replicated T2D association of 11 SNPs, namely, rs7578326 (IRS1), rs1531343 (HMGA2), rs8042680 (PRC1), rs7578597 (THADA), rs1333051 (CDKN2), rs6723108 (TMEM163), rs163182 and rs2237897 (KCNQ1), rs1387153 (MTNR1B), rs243021 (BCL11A), and rs10229583 (PAX4) in our sample. Further, we showed that risk allele of the strongest T2D associated SNP in our sample, rs757832 (IRS1), is associated with increased level of TG. We observed substantial difference of T2D risk allele frequency between the Mongolian sample and the 1000G Caucasian sample for a few SNPs, including rs6723108 (TMEM163) whose risk allele reaches near fixation in the Mongolian sample. Further study of genetic architecture of these variants in susceptibility of T2D is needed to understand the role of these variants in heterogeneous populations.