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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。
Aims: To investigate the allele and genotype frequencies of rsl3266634 single nucleotide polymorphism (SNP) in SLC30A8 gene of Chinese Han population in Inner Mongolia and type 2 diabetes , T2DM). Methods: Genotyping was performed on rsl3266634 in 222 Han population in Inner Mongolia (125 in T2DM group and 97 in NC group) using allele-specific polymerase chain reaction (AS-PCR). Results: The frequencies of C allele and CC genotype of rsl3266634 in T2DM group were 61.2% and 28.4%, respectively, which were significantly higher than those in NC group (53.1% and 24.7%, P <0.05) The genotype frequency was 6.4%, which was significantly lower than that in NC group (18.6%, P <0.05). Patients with C alleles had a 1.64-fold greater risk of developing T2DM than those with T alleles (OR = 1.64, 95% CI = 1.125-2.402). CONCLUSION: The C allele of rsl3266634 polymorphism site of SLC30A8 gene may be the risk allele of T2DM. The C / T polymorphism of this locus correlates with T2DM in Han population of Inner Mongolia, which may be related to T2DM in Han population of Inner Mongolia One of the susceptible genes.