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目的探讨NAT2基因多态性与2型糖尿病易感性的关系,为糖尿病的有效防治提供科学依据。方法采用PCR及测序技术对174例2型糖尿病患者和174例健康者的NAT2基因4个常见突变位点进行检测。结果糖尿病组中NAT2等位基因频率分别为:Wt(69.54%),M2(16.37%),M3(10.63%),M1(3.44%)。与正常对照组比较差异无显著性。NAT2基因型(WT/WT,WT/Mx,Mx/Mx)在糖尿病组中分布频率分别为44.82%,49.42%,5.74%,两组间比较差异显著。糖尿病组中快乙酰化者164例(占94.25%),慢乙酰化者10例(占5.75%),两组间比较有差异。携带NAT2快乙酰化基因型者患2型糖尿病的风险是携带NAT2慢乙酰化基因型者的3.98倍。结论本研究提示快乙酰化代谢表型可能是糖尿病的一个遗传易感因素,而慢乙酰化代谢表型可能对糖尿病的发生具有一定保护作用。
Objective To investigate the relationship between polymorphism of NAT2 gene and the susceptibility to type 2 diabetes and to provide a scientific basis for the effective prevention and treatment of diabetes mellitus. Methods Four common mutations of NAT2 gene in 174 type 2 diabetic patients and 174 healthy controls were detected by PCR and sequencing. Results The frequencies of NAT2 alleles in diabetic group were Wt (69.54%), M2 (16.37%), M3 (10.63%) and M1 (3.44%), respectively. No significant difference compared with the normal control group. The frequencies of NAT2 genotype (WT / WT, WT / Mx, Mx / Mx) were 44.82%, 49.42% and 5.74% respectively in diabetic group, with significant difference between the two groups. There were 164 cases (94.25%) of fast acetylation and 10 cases of slow acetylation in diabetic group (5.75%), there were differences between the two groups. The risk of developing type 2 diabetes with the NAT2 fast acetylation genotype is 3.98-fold greater than with the slow-acetylation NAT2 genotype. Conclusions This study suggests that fast acetylated phenotype may be a genetic predisposing factor for diabetes, whereas slow acetylated phenotype may have a protective effect on the development of diabetes.