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目的:探讨凝血酶激活的纤溶抑制物(TAFI)编码区2个位点(505A/G,1040C/T)的单核苷酸多态性与2型糖尿病(T2DM)发病及病程进展的相关性。方法:应用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)分析技术检测267例T2DM患者(单纯糖尿病110例,早期糖尿病肾病90例,临床糖尿病肾病67例)和140例正常对照者的TAFI505A/G、1040C/T2位点的多态性。结果:505A/G多态性位点病例组与对照组中各基因型的分布差异无统计学意义。在1040C/T位点,T2DM组T等位基因的频率与对照组相比明显下降(15.6%对25.7%,P<0.05),其T/T纯合子型比例亦显著下降(P<0.05,95% OR 0.28,CI0.11~0.70)。但这种显著性差异只在早期糖尿病肾病患者中表现出来,随着病情的进展,这种差异在临床糖尿病肾病患者组与对照组间却表现不明显,差异无统计学意义(P>0.05)。结论:1040C/T多态性位点T等位基因可能作为一种保护性基因在T2DM发病及早期病情进展中起到保护性作用,即TAFI1040C/T基因多态性可能与T2DM患病危险度存在关联。
OBJECTIVE: To investigate the association of single nucleotide polymorphisms at two loci (505A / G, 1040C / T) of thrombin-activated fibrinolysis inhibitor (TAFI) with the pathogenesis and progression of type 2 diabetes mellitus (T2DM) Sex. Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was used to detect 267 T2DM patients (110 cases of simple diabetes, 90 cases of early diabetic nephropathy and 67 cases of clinical diabetic nephropathy) and 140 Cases of normal controls TAFI505A / G, 1040C / T2 site polymorphism. Results: There were no significant differences in the distribution of genotypes between the 505A / G polymorphism loci and the control group. At 1040C / T, the frequency of T allele in T2DM group was significantly lower than that in control group (15.6% vs 25.7%, P <0.05), and the proportion of T / T homozygote was also significantly decreased (P <0.05, 95% OR 0.28, CI 0.11 ~ 0.70). However, this significant difference was only found in patients with early diabetic nephropathy. As the disease progressed, the difference was not significant in the patients with clinical diabetic nephropathy and the control group, with no significant difference (P> 0.05) . CONCLUSION: The T allele at 1040C / T polymorphism may play a protective role in the pathogenesis of T2DM as a protective gene and its early progression. The polymorphism of TAFI1040C / T may be associated with the risk of T2DM There is an association.