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目的研究激活转录因子6(ATF6)基因Ala145Pro(GCG→CCG)变异与中国人糖脂代谢的相关性。方法对689例上海地区中国人(其中糖调节正常者361名,新诊断2型糖尿病患者250例,早发2型糖尿病家系先证者78例)采用PCR-RFLP检测ATF6基因Ala145Pro变异,并测定所选人群的糖脂代谢相关临床指标。结果(1)等位基因频率分布在早发2型糖尿病家系先证者和糖调节正常人群中差异有统计学意义(P=0.035),糖调节正常人群中C等位基因频率较高;(2)糖调节正常人群中,CC+CG基因型携带者高密度脂蛋白胆固醇较GG基因型者低(P=0.014);(3)新诊断2型糖尿病患者中,CC+CG基因型携带者低密度脂蛋白胆固醇较GG基因型者高(P=0.041)。结论ATF6基因与中国人糖脂代谢相关。
Objective To investigate the relationship between the mutation of Ala145Pro (GCG → CCG) and the glucose and lipid metabolism in Chinese population. Methods The mutation of Ala145Pro in ATF6 gene was detected by PCR-RFLP in 689 Chinese patients in Shanghai, including 361 normal controls, 250 newly diagnosed type 2 diabetics and 78 early proband type 2 diabetics. The selected population of glucose and lipid metabolism related clinical indicators. Results (1) Allele frequency distribution had a significant difference between probands with normal controls and normal controls (P = 0.035). The frequency of C allele was higher in normal glucose-regulated population. ( 2) In the normal glucose-regulated population, the carriers of CC + CG genotypes had lower HDL cholesterol than those of GG genotype (P = 0.014); (3) Among newly diagnosed type 2 diabetic patients, CC + CG genotype carriers Low-density lipoprotein cholesterol was higher in patients with GG genotype (P = 0.041). Conclusion The ATF6 gene is associated with Chinese glucose and lipid metabolism.