天津地区汉族人群E-选择素A561C基因多态性与2型糖尿病相关性研究

摘 要 目的：探讨E-选择素基因A561C多态性与天津地区汉族人群2型糖尿病（T2DM）的关系。方法：利用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）方法检测112例DM和140例正常个体A561C多态性，并进行临床资料的分析。结果：在112例DM患者中，检出12例杂合子突变基因型（AC），C等位基因频率为5.36%；在140例对照中，检出4例AC，C为1.43%，两组均未检出突变纯合子(CC)，差异有统计学意义（P＜0.05）；DM组SBP、BMI、TC、TG、LDL、FPG、P2PG、FINS高于对照组，两组差异有统计学意义（P <0.05）；以基因型分组，显示AC组FPG、 P2PG、 FINS值均高于AA组，两者间差异有统计学意义（P<0.05）。结论：C等位基因可能为天津地区汉族人群T2DM易感基因，揭示E-选择素基因多态性在DM的发生与发展中的作用。

Relativity Study between the E-Selectin Gene A561C Polymorphism and Diabetes Mellitus in Chinese Han Population of Tianjin

Abstract Objectives: To discuss the relation between E-selectin gene A561C polymorphism and T2DM. Methods：Using PCR-RFLP way, the A561C polymorphism was screened in 112 DM and 140 controls, and analyze clinical data. Results： 12 with the heterozygote mutation (AC) were found in 112 DM patients, and the C allele frequency is 5.36%. 4 were found in 140 controls, and C is 1.43%. It has statistics differences (P <0.05). No homozygote mutation (CC) in the two groups. DM group is higher than the control group in SBP, BMI, TC, TG, LDL, FPG, P2PG and FINS. It has statistics difference（P <0.05）. From the genotype, AC is higher than AA in FPG, P2PG and FINS. It has statistics difference（P <0.05）. Conclusions: It shows that the mutation may be the susceptibility gene in the Han nationality population in Tianjin ,and plays an important role in the occurrence and development of DM.