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目的探讨内蒙古地区汉族人群胰岛素样生长因子2 mRNA结合蛋白(IGF2BP2)基因rs4402960单核苷酸多态性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反应(AS-PCR)对360例内蒙古地区汉族人(T2DM组166例,正常对照组194例)rs4402960进行基因分型。结果 T2DM组中rs4402960的T等位基因频率和TT、GT基因型频率分别为41.6%、12.1%和59.0%,均高于正常对照组的10.6%、3.6%和13.9%(P均<0.05);而T2DM组的GG基因型频率为28.9%,低于正常对照组的82.5%(P<0.05)。携带T等位基因是患T2DM的危险因素(OR=6.02,95%CI=4.075～8.895)。结论 IGF2BP2基因rs4402960多态性位点的T等位基因可能是T2DM的风险等位基因,该位点G/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。
Objective To investigate the association between allele and genotype frequency of rs4402960 SNP and type 2 diabetes (T2DM) in Han population of Inner Mongolia. Methods Genotypes of rs4402960 were genotyped in 360 cases of Han nationality in Inner Mongolia (166 in T2DM group and 194 in normal control group) by allele-specific polymerase chain reaction (AS-PCR). Results The frequencies of T allele and TT and GT genotypes of rs4402960 in T2DM group were 41.6%, 12.1% and 59.0% respectively, which were higher than those in normal control group (10.6%, 3.6% and 13.9% respectively) (all P <0.05) The frequency of GG genotype in T2DM group was 28.9%, which was lower than 82.5% in normal control group (P <0.05). Carrying T allele is a risk factor for T2DM (OR = 6.02, 95% CI = 4.075 ~ 8.895). Conclusion The T allele of rs4402960 polymorphism site of IGF2BP2 gene may be the risk allele of T2DM. The G / T polymorphism of this locus is associated with T2DM in Han population in Inner Mongolia, which may be related to T2DM in Han nationality in Inner Mongolia One of the susceptible genes.