【摘要】 目的 研究内蒙古地区汉族人群中T2DM易感性与TCF7L2基因rs7903146T/C和rs7901695T/C位点单核苷酸多态性(SNPs)是否相关。 方法 收集T2DM患者和正常体检人群的抗凝血，采用等位基因特异性PCR (AS-PCR)进行SNPs分析;运用SHEsis软件对T2DM组和正常对照(NC)组的TCF7L2基因的SNPs位点进行连锁不平衡和单倍型分析。 结果 rs7903146 T/C和rs7901695 T/C位点的基因型分布在T2DM及NC组间的分布差异无统计学意义(P>0.05)，但rs7903146T/C位点的T和C等位基因频率在两组间的分布差异有统计学意义(P<0.05)。rs7903146 T/C和rs7901695 T/C位点连锁平衡(D\'=0.060)，rs7901695T-rs7903146T单倍型在T2DM组的频率明显高于NC组(P<0.01,OR=1.803,95%CI:1.183～2.7487)。　结论 在内蒙古地区汉族人群，rs7903146位点C→T多态性可能与T2DM关联，携带突变等位基因T可增加罹患T2DM的风险，rs7901695位点C→T多态性与T2DM易感性无明显相关性，但是rs7901695T-rs7903146T单倍型与T2DM发病风险相关。

　　【关键词】TCF7L2;单核苷酸多态性;基因型频率;单倍型

　　Study on the relation of TCF7L2 rs7903146T/C and rs7901695T/C SNPs with susceptibility to Type 2 Diabetes mellitus in Inner Mongolia Han people FENG Qiu-ping, LI Xiao-jing, SU Yan, et al. Department of Biochemistry and Molecular Biology, Baotou Medical College, Baotou 014060，China

　　Corresponding author: SU Yan, E-mail: synmg@126.com

　　【Abstract】 Objective To study the susceptibility of Inner Mongolia Han people to type 2 diabetes mellitus (T2DM) and its association with the TCF7L2 rs7903146 T/C and rs7901695 T/C single nucleotide polymorphisms (SNPs). Methods The collection of anticoagulant serum of T2DM patients and normal people coming for health examinations was done for the study. Allele-specific PCR (AS-PCR) was used to analyze the SNPs of TCF7L2 rs7903146 and rs7901695. SHEsis was adopted to analyze the linkage disequilibrium (LD) and haplotype of SNPs of TCF7L2 of the subjects. Results The difference of genotype distributions of rs7903146 and rs7901695 between the T2DM and normal control (NC) groups was not statistically significant (P>0.05), but the difference of distribution of T and C allele frequency of rs7903146 between the two groups was statistically significant (P<0.05). The linkage equilibrium of rs7903146 T/C and rs7901695 T/C (D\'=0.060) and the frequency of rs7901695T-rs7903146T haplotype in the T2DM group were significantly higher than those in the NC group (P<0.01, OR=1.803, 95%CI:1.183-2.7487). Conclusion In Inner Mongolia Han people, rs7903146 C→T polymorphism is possibly related with T2DM, and T mutated allelic gene can increase the risk of T2DM. However, rs7901695 C→T polymorphism is not significantly related the susceptibility of T2DM, while rs7901695T-rs7903146T haplotype is related with the risk of T2DM.

　　【Keywords】TCF7L2; Single nucleotide polymorphisms (SNPs); Genotype frequency; Haplotype