克拉玛依地区部分人群基因多态性与2型糖尿病易感性的相关性研究

Association of genetic polymorphisms with type 2 diabetes susceptibility in part of the Karamay population

目的探究磷脂酶结构域蛋白3(PNPLA3)rs738409、细胞周期蛋白依赖性激酶5调节亚基相关蛋白样1(CDKAL1)rs7754840和葡萄糖激酶调节蛋白(GCKR)rs780094基因的单核苷酸多态性(SNPs)与新疆克拉玛依市不同民族2型糖尿病(T2DM)发生的相关性。方法选取2021年11月至2022年11月间在新疆克拉玛依市中西医结合医院(市人民医院)住院部和体检中心就诊的236例T2DM患者和371例健康受试者,运用多重PCR技术和单碱基延伸技术进行基因分型,探讨SNPs与新疆汉族和少数民族T2DM发生和相关临床指标的关系。结果在新疆汉族人群中,PNPLA3 rs738409位点GG基因型与T2DM风险增加相关(P_(rec)=0.013,OR=2.15,95%CI=1.18~3.92);新疆汉族人群GCKR rs780094位点携带T等位基因与较低的空腹血糖(FPG)水平(P_(dom)=0.021,β=-1.34,95%CI=-2.47~-0.20)和较高的甘油三酯(TG)水平(P_(rec)=0.035,β=0.77,95%CI=0.06~1.48)相关。在新疆少数民族人群中,GCKR rs780094位点携带T等位基因与较高的糖化血红蛋白(HbA1c)水平(P_(add)=0.001,β=0.71,95%CI=0.30~1.13;P_(dom)=0.001,β=0.96,95%CI=0.40~1.52)和较低的体重指数(BMI)水平(P_(dom)=0.028,β=-2.34,95%CI=-4.43~-0.26)相关;CDKAL1 rs7754840的CC基因型与少数民族中HbA1c水平的降低显著相关(P_(rec)=0.001,β=-1.20,95%CI=-1.90~-0.50)。结论PNPLA3 rs738409位点GG基因型是新疆汉族人群T2DM的风险因素,未观察到GCKR rs780094和CDKAL1 rs7754840基因与新疆地区汉族或少数民族人群T2DM易感性之间具有统计学意义的相关性,但GCKR rs780094和CDKAL1 rs7754840位点的变异可能导致新疆汉族和少数民族FPG、HbA1c、TG和BMI水平变化。

Objective To study the association between PNPLA3 rs738409,CDKAL1 rs7754840,GCKR rs780094 polymorphisms and T2DM susceptibility in diferent ethnicities of Karamay population in Xingjiang.Methods Our study was conducted in Karamay Integrated Chinese and Western Medicine Hospital(Municipal People's Hospital)in Xinjiang Province involving 236 diabetic patients and 371 healthy controls who visited the hospital from November 2021 to November 2022.Using the method of multiplex PCR technology and single-base extension technology for genotyping,we investigated the associations of SNPs with the incidence of T2DM and related clinical indicators in Han Chinese and minority ethnic groups from Xinjiang.Results Han Chinese with GG genotype of PNPLA3 rs738409 showed an increased risk of T2DM(Pre=0.013,0R=2.15,95%CI=1.18-3.92).It was also found that Han Chinese carriers with T allele of GCKR rs780094 were associated with reduced FPG levels(P_(dom)=0.021,β=-1.34,95%CI=-2.47--0.20)and higher TG levels(Pr=0.035,β=0.77,95%CI=0.06-1.48).While in minority ethnic groups,those who carried T allele of GCKR rs780094were associated with higher HbAl.levels(Pada=0.001,β=0.71,95%CI=0.30-1.13;Paom=0.001,β=0.96,95%Cl=0.40-1.52)and lower BMI levels(Pam=0.028,β=-2.34,95%CI=-4.43--0.26).Besides,CC genotype of CDKAL1 rs7754840 was significantly associated with reduced levels of HbAi.(P.=0.001,β=-1.20,95%Cl=-1.90--0.50)in minority ethnic groups.ConclusionsThe CG genotype at the PNPLA3 rs738409 locus is a risk factor for T2DM in the Han population of Xinjiang.Although no significant association was found between T2DM susceptibility and GCKR rs780094,CDKALI rs7754840 loci,variations at those two loci may also lead to changes in FPG,HbArc,TG,and BMI levels in both Han Chinese and minority ethnic groups of Xinjiang.