KLF14基因rs4731702多态性与中国汉族人群2型糖尿病关联研究

A study on the association between variant of rs4731702 in KLF14 gene and type 2 diabetes mellitus in chongqing han population

目的:研究中国重庆地区汉族人群Kruppel-like factor 14(KLF14)基因rs4731702多态性与2型糖尿病(T2DM)的相关性。方法:在中国重庆地区汉族人群中选取200例健康对照者和200例T2DM患者。采用病例对照研究方法,通过收集临床资料,进行人体测量学及代谢指标的检测(包括空腹血浆胰岛素、血糖、血脂、血压等),计算体质指数、臀腰比、胰岛素抵抗指数及β细胞功能指数并提取DNA和测序。对两组KLF14基因的rs4731702位点进行基因分型,比较2组间的基因型和等位基因频率,并进行与T2DM的关联分析。结果:T2DM组KLF14基因rs4731702位点空腹血糖(FPG)、甘油三酯(TG)、极低密度脂蛋白(VLDL)、胰岛素抵抗指数(HOMA-IR)明显高于NC组,差异有统计学意义(p<0.05)。健康对照组中CC+CT基因型178例(89%)、TT基因型22例(11%),C、T等位基因频率分别为67.5%和32.5%;T2DM组CC+CT基因型188例(94%)、TT基因型12例(6%),C、T等位基因频率分别为74.5%和25.5%,2组间差异有统计学意义(p<0.05)。结论:KLF14基因rs47313702位点的多态性可能与中国汉族人群T2DM发病相关。由于T2DM发病机制较为复杂,且基因多态性有一定的地域性和异质性,该基因风险等位基因C在正常对照人群中也普遍存在,故其在T2DM的发病过程中可能不起显著作用。

Objective： Research on relationship of T2DM and polymorpbism of KLF14 rs4731702 in Chongqing of China . Methods Two hundred of normal controls and two hundred of T2DM patients were screened as research subjects. By case- control method, we detected anthropometric variables and metabolism indexes, such as fasting serum insulin, blood glucose, blood fat and blood pressure etc, ＇after clinical data has been collected. Then we calculated BMI, WHR, HOMA - IR and HOMA - βand sequenced DNA that extracted. We compared gene type and allele frequency between the two groups through genotyping of KLF14 rs4731702 locus and analyzed the association between T2DM and the locus. Results In T2DM groups, the fasting plasma glucose I FPG}, the ~rum levels of triglyceride [TG）, the very low- density lipoprotein （VLDL） and HOMA- IR were significantly higher than that in normal control groups with a significant difference （ p 〈 0.05 ）. The genoty-pe frequency in the normal control groups and T2DM groups were 89 % for CC ＋ CT, 11% for TF and 94 % for CC ＋ CT, 6 % for TF. The allele frequency were 67.5% for C, 32.5% for G and 74.5% for C, 25.5% for G respectively, and there was statistical significance between the two groups（p〈 0.05）. Conclusion The polymorphism of KLF14 rs4731702 may be related to the T2DM in Chongqing Han Chine~. Considering the complexity pathogenesis of T2DM and the regionality and heterogeneity of gene polymorphism, and the altde C is also ubiquitous in nom^al control groups. So it may don＇t play a significant role in the T2DM pathogenesis.