原钙黏蛋白11X rs5984894基因多态性与迟发性阿尔茨海默病的相关性研究

PCDH11X rs5984894 Genetic Variation and Risk of Late-onset Alzheimer’s Disease

目的：研究原钙黏蛋白11X（PCDH11X）rs5984894A/G基因多态性与迟发性阿尔茨海默病（AD）的相关性。方法：采用病例对照研究方法,应用聚合酶链反应限制性片段长度多态性（RCR-RFLP）技术检测355例迟发性AD患者和399名健康人的PCDH11X rs5984894的基因型及等位基因频率。应用卡方检验和Logistic回归分析其与AD的相关性。结果：AD组与对照组基因型及等位基因频率差异均无显著统计学意义（P〉0.05）,将样本按载脂蛋白Eε4及性别分层后,同样两组间的差异均无统计学意义（P〉0.05）。经Logistic回归分析去除混杂因素影响后,女性GG纯合子OR=2.90,95%CI=0.57-14.65。结论：中国北方汉族人群中PCDH11X rs5984894基因多态性可能不是迟发性AD发病的独立遗传因素,与迟发性AD的发病无关。

To assess the involvement of the protocadherin 11 X-linked （PCDH11X） polymorphism in the risk of developing late-onset Alzheimer’s disease （LOAD） in Han Chinese population. Methods： Using PCR-RFLP to analyze the genotype and allele distributions of the PCDH11X rs5984894 polymorphism in 355 LOAD cases and 399 healthy controls. The association of the genotype and allele frequencies with the risk of LOAD was elucidated. Results： No significant association between the tested SNP and LOAD was found （P 0.05）. Logistic regression analysis demonstrated that OR of the female homozygote was 2.90, 95%CI=0.57- 14.65. Conclusion： PCDH11X gene might be not an independent risk factor in the genetic predisposition to LOAD in the Han Chinese population and it was not concerned with the onset of LOAD.