CAJ | 학술논문

目的：探讨脑啡肽酶( neprilysin, NEP)基因启动子区多态性与中国汉族人群散发性阿尔茨海默病( sporad-ic Alzheimer’s disease, SAD)的相关性。方法应用聚合酶链式反应-限制性片段长度多态性方法和直接测序的方法对160例SAD患者和150例正常对照者进行多态性分型。结果中国人群中的 NEP基因启动子区存在两个多态性位点：-961T/C(rs9829757)与-591T/C(rs989692)。-961T/C和-591T/C多态性的基因型和等位基因频率在SAD和正常对照组中差异有统计学意义(P<0．05),其中-961T和-591T等位基因在SAD中明显增多,且在不携带ApoEε4的亚组中,其等位基因频率在两组间差异有统计学意义(P<0．05)。结论 NEP启动子区rs9829757与 rs989692多态性与中国汉族人群SAD的发病相关。
목적：탐토뇌배태매( neprilysin, NEP)기인계동자구다태성여중국한족인군산발성아이자해묵병( sporad-ic Alzheimer’s disease, SAD)적상관성。방법응용취합매련식반응-한제성편단장도다태성방법화직접측서적방법대160례SAD환자화150례정상대조자진행다태성분형。결과중국인군중적 NEP기인계동자구존재량개다태성위점：-961T/C(rs9829757)여-591T/C(rs989692)。-961T/C화-591T/C다태성적기인형화등위기인빈솔재SAD화정상대조조중차이유통계학의의(P<0．05),기중-961T화-591T등위기인재SAD중명현증다,차재불휴대ApoEε4적아조중,기등위기인빈솔재량조간차이유통계학의의(P<0．05)。결론 NEP계동자구rs9829757여 rs989692다태성여중국한족인군SAD적발병상관。
Objective To study the association between NEP gene promoter polymorphisms with sporadic Alzheimer’s dis-ease ( SAD) in Chinese Han population. Methods Using PCR-RFLP or sequencing, we genotyped these polymorphisms of 160 SAD patients and 150 healthy controls. By genetic statistical assay, we studied the association between these polymorphisms and the risk for SAD. Results There are two single-nucleotide polymorphisms ( SNPs ) in NEP promoter region:-961T/C (rs9829757) and -591T/C(rs989692). For -961T/C and -591T/C, there were significant differences in genotype and allele fre-quencies between SAD and control. -961T and-591T alleles were overrepresented in SAD patients compared to those in controls. In the subjects without APOEε4 allele, these differences remain significant. However, no significance was found when they were compared between two groups with APOE ε4 positive. Conclusion rs9829757 and rs989692 polymorphism in the NEP promoter is associated with SAD in Chinese Han population.