Impact of diabetes-related gene polymorphisms on the clinical characteristics of type 2 diabetes Chinese Han population

// Jing Li 1, * , Jiachen Wei 2, * , Pengcheng Xu 3 , Mengdan Yan 1, 4 , Jingjie Li 1, 4 , Zhengshuai Chen 1, 4 , Tianbo Jin 1, 4 1 Key Laboratory of Resource Biology and Biotechnology in Western China (Northwest University), Ministry of Education, School of Life Sciences, Northwest University, Xi’an, Shaanxi 710069, China 2 Department of Endocrinology, Xi’an NO.1 Hospital, Xi’an 710002, China 3 Inner Mongolia Medical University, Inner Mongolia, Hohhot 010010, China 4 Xi’an Tiangen Precision Medical Institute, Xi’an, Shaanxi, 710075, China * These authors have contributed equally to this work Correspondence to: Tianbo Jin, email: jintianbo@gmail.com Keywords: type2 diabetes, single nucleotide polymorphism, case-control, genetic Received: August 19, 2016      Accepted: October 19, 2016      Published: November 16, 2016 ABSTRACT We investigated the correlation between type 2 diabetes (T2D)-related genes and the clinical characteristics of T2D in the Chinese Han population. Our study included 319 patients and 387 controls. Age, gender, clinical features, medications intake and biochemical blood profiles were analyzed. Genotyping was performed on a total of 18 single nucleotide polymorphisms previously reported to be associated with T2D. Our analyses revealed that the CT genotype of ARHGAP22 rs4838605 is associated with T2D risk. Upon analyzing the subjects’ clinical characteristics, we found that for rs2811893, the TT genotype correlated with high creatinine levels, while the AA genotype of rs17045754 and the TT genotype of rs4838605 correlated with elevated triglyceride levels. In addition, the AA genotype of rs17376456 and the TT genotype of rs6214 ( p = 0.006) correlated with elevated hemoglobin A1c levels. Lastly, those carrying the TT genotype of rs7772697 and the CA genotype of rs3918227 exhibited higher mean body mass index and Cystatin C than controls. Our results showing that the ARHGAP22 gene is associated with an increased risk of T2D, and that seven SNPs in MYSM1 , PLXDC2 , ARHGAP22 and HS6ST3 promote T2D progression and could help predict the clinical course of T2D in patients at risk.