SLC30A8基因rsl3266634多态性与内蒙古地区汉族人群2型糖尿病的相关性研究

目的：研究内蒙古地区汉族人群SLC30A8（solute carrier family 30,member 8）基因rsl3266634单核苷酸多态性（Single nucleotide polymorphism,SNP）的等位基因和基因型频率分布与2型糖尿病（Type 2 diabetes,T2DM）的相关性。方法：采用等位基因特异性聚合酶链式反应（AS-PCR）,对222例内蒙古地区汉族人（其中T2DM组125例,正常对照NC组97例）rsl3266634进行基因分型。结果：T2DM组中rsl3266634的C等位基因频率、CC基因型频率分别为61.2%和28.4%,均显著高于NC组的53.1%和24.7%（P值均〈0.05）;而T2DM组的TT基因型频率为6.4%,显著低于NC组的18.6%（P〈0.05）。C等位基因携带者患T2DM的风险是T等位基因的1.64倍（OR=1.64,95%CI=1.125-2.402）。结论：SLC30A8基因rsl3266634多态性位点的C等位基因可能是T2DM的风险等位基因,该位点C/T多态性与内蒙古地区汉族人群T2DM具有相关性,可能是内蒙古地区汉族人T2DM的易感基因之一。

Association of rs13266634 Polymorphism in SLC30A8 Gene with Type 2 Diabetes in Han Population of Inner Mongolia

Objective：To study association of alleles and genotype frequencies of rsl3266634 single nucleotide polymorphism in SLC30A8（solute carrier family 30,member 8） gene with type 2 diabetes mellitus in Han population of Inner Mongolia.Methods：Using allele-specific polymerase chain reaction,the rsl3266634 polymorphism of SLC30A8 gene was genotyped in 222 Han population of Inner Mongolia,including 125 patients with type 2 diabetes（T2DM group） and 97 normal controls（NC group）.Results：In T2DM group,the frequencies of C allele and CC genotype of rsl3266634 were 61.2% and 28.4% respectively,they were significantly higher than those（53.1% and 24.7%） in the NC group（P0.05）;The TT genotype was significantly lower than that of the NC group（P0.05）.The risk of T2DM was significantly increased by C allele with T allelic odd ratio（OR） of 1.64（OR=1.64,95% CI=1.125-2.402）.Conclusion：C allele of rsl32666634 polymorphism site in SLC30A8 gene might be a risk factor of T2DM,the site C/T polymorphism is associated with Type 2 diabetes and SLC30A8 gene might be a susceptible gene of T2DM in Han population of Inner Mongolia.