一氧化氮合酶-1接头蛋白基因多态性和阿尔茨海默病的关联研究

发布时间：2018-01-11 12:04

本文关键词：一氧化氮合酶-1接头蛋白基因多态性和阿尔茨海默病的关联研究　出处：《临床精神医学杂志》2016年06期 　论文类型：期刊论文

【摘要】：目的:探讨中国汉族人群一氧化氮合酶-1接头蛋白(NOS1AP)基因多态性与阿尔茨海默病(AD)的相关性。方法:采用Taq Man探针基因分型技术对300例AD患者(病例组)及716名正常对照者(正常对照组)进行NOS1AP基因多态性(rs1415263、rs4145621、rs12742393、rs348624)分型,应用SHEsisplus和SNPstats在线软件比较两组间的等位基因频率、基因型频率、单体型频率分布。结果:rs4145621、rs12742393和rs348624等位基因频率(χ~2=2.78,P=0.095;χ~2=2.489,P=0.115;χ~2=0.002,P=0.964)两组间分布差异无统计学意义;基因型频率在5种遗传模式下(经年龄、性别校正后P均0.05)两组间分布差异无统计学意义;单体型CC(rs4145621-rs12742393)正常对照组的频率低于病例组(0.011 vs 0.028;χ~2=6.103,P=0.013),经性别、年龄校正后差异无统计学意义(P=0.52),其余CA、TC、TA单体型在两组中分布差异无统计学意义(P0.05)。结论:在中国汉族人群中,NOS1AP基因可能不是AD的易感基因。
[Abstract]:Objective: to investigate the relationship between the polymorphism of nitric oxide synthase 1 (NOS 1) gene and Alzheimer's disease (AD) in Chinese Han population. Methods: NOS1AP gene polymorphism was detected in 300 AD patients (case group) and 716 normal controls (normal control group) by Taq Man probe genotyping. Rs1415263. Rs4145621, rs12742393, rs348624). The allele frequency, genotype frequency and haplotype frequency distribution of the two groups were compared by SHEsisplus and SNPstats. Results: Rs4145621. The frequency of rs12742393 and rs348624 alleles (蠂 ~ 2 = 2.78) was 0.095; 蠂 ~ (2 +) 2.489 (P = 0.115); There was no significant difference in distribution between the two groups. There was no significant difference in the distribution of genotypes between the two groups under five genetic models (P 0.05 after age and sex correction). The frequency of haplotype CCS 4145621-rs12742393) in normal control group was lower than that in case group (0.011 vs 0.028). The difference was not statistically significant after sex, age correction, and the other CATC. There was no significant difference in the distribution of TA haplotype between the two groups. Conclusion: the NOS1AP gene may not be the susceptible gene of AD in Chinese Han population.
【作者单位】：上海交通大学医学院附属精神卫生中心;
【基金】：国家自然科学基金面上项目(81171272) 上海市公共卫生优秀学科带头人培养计划(GWDTR201227) 国家临床重点专科-上海市精神卫生中心(卫生部医政司2011-873) 上海市精神卫生中心院级国际合作课题(2015-YJGJ-03)
【分类号】：R749.16
【正文快照】： 阿尔茨海默病(AD)是中枢神经系统原发性退行性变性疾病,主要表现为记忆和认知功能损害、行为及人格改变。随着遗传分子生物学技术的发展,人类正努力从基因层面来寻找AD的发病机制和治疗方法。目前世界范围内普遍接受APP、PSEN-1和PSEN-2是早发性家族性AD的3个主要致病基因[1],

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