【摘要】 目的观察中性内肽酶(neprilysin,NEP)C159T多态在广东地区汉族老年人中的分布,探讨其与晚发阿尔茨海默病(AD)的相关性。方法以91例晚发AD患者和97名正常老年人为对照进行病例-对照研究。用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)分析NEP基因C159T多态性和载脂蛋白E(apoE)基因多态性。结果AD组C159T多态T等位基因频率较对照组降低(23.2%vs25.3%,х=184.96,P<0.05),而两组间基因型频率差异无统计学意义(P>0.05)。AD组apoE等位基因ε4与AD成正关联(19.2%vs8.2%,OR=2.648,х=9.66,P<0.05)。无论是否携带ApoEε4,C159T各基因型和等位基因分布在两组间差异均无统计学意义(P>0.05)。结论NEP基因C159T多态C等位基因可能与晚发AD关联,未发现ApoEε4与该多态性存在协同效应。更多还原

【Abstract】 Objective To investigate the effect of the polymorphism of C159T in NEP gene on the development of late-onset Alzherimer’s disease(LOAD)in the elderly Han Chinese in Guangdong.Methods NEP and apoE polymorphisms were determined by PCR-RFLP in ninety one patients with AD and ninety seven age,sex matched healthy elderly Chinese subjects in the case-control trial.Results The frequency of NEP T allele in AD group decreased significantly compared with controls(23.2% vs 25.3%,х2=184.96,P<0.05).of owever,there was no difference in genotypic frequency between the two groups(х2=0.315,P>0.05).ApoEε4 allele was associated with LOAD(19.2% vs 8.2%,OR=2.648,х2=9.66,P<0.05).(3)There was no difference in the distribution of NEP C159T genotype between both two groups in either presence or absence of apoEε4.Conclusions Our results indicate that NEP gene C159T polymorphism may be associated with LOAD in the Han Chinese population,but apoEε4 does not affect the distribution of C159T polymorphism.更多还原