The Xinjiang Uygur Autonomous Region, China. * Equal contributors

Xiaolong Deng, Hao Liu, Nalima, Aleteng Qiqiger, Jun Zhu
2017 Int J Clin Exp Pathol   unpublished
Studies have showed a number of susceptibility genes variants such as transcription factor 7-like 2 (TCF7L2), potassium voltage-gated channel subfamily Q member 1 (KCNQ1), juxtaposed with another zinc finger protein 1 (JAZF1) and HNF1 homeobox B (HNF1B) been strongly associated with type 2 diabetes (T2D) in various ethnic groups. However, few studies have conducted in Uyghur, a Chinese minority ethnic group as an admixture population of Caucasians and East Asians. This study was performed to
more » ... was performed to evaluate the association of genetic poly-morphism with T2D susceptibility in the Uyghur population. The genomic samples from the blood of unrelated 284 T2D patients and 258 healthy controls were genotyped and analyzed using denaturing high performance liquid chromatography (DHPLC) assay. We found that four SNPs (rs290487, rs864745, rs4430796 and rs23136) in TCF7L2, JAZF1, HNF1B and KCNQ1 genetic regions show unique association with T2D in Uyghur population with an OR of 6.67295% (CI 1.06-1.48, P=0.002), an OR of 0.302 (CI 1.21-1.53, P=0.005) and an OR of 0.223 (CI 0.98-1.17, P=0.001), respectively. Subjects with mutant CC genotype of rs290487 were at high increased risk of T2D in Uyghur especially for the male subjects with an OR=11.782 (CI 1.12-1.53, P=0.001). Further metabolic evaluation confirmed that subject with rs290487 genotype have higher waste-hip circumference ratio (P<0.05), diastolic blood pressure (P<0.05), fasting blood glucose (P<0.05) and hemoglobin A1c levels (P<0.05). While mutant AA genotype for rs23136 (OR=0.223, CI 1.03-1.44, P=0.002) respectively were a protective factor in the Uyghur population. The rs231362 have also found been associated with fasting blood glucose and high-density lipoprotein respectively (P<0.05). However, none of the genotypes showed the significant association with T2D in local Han Chinese population. Taken together, we confirmed the rs290487, rs231362 and rs4430796 transcription variants may act as genetic risk factors for the development of T2D in the Uyghur population in China and these results might provide supporting evidences for T2D diagnosis for Uyghur people in the future.