朊蛋白基因129密码子多态性与阿尔茨海默病的关系

The relationship between prion protein gene codon 129 polymorphism and Alzheimer's disease

目的探讨朊蛋白基因(PRNP)129密码子多态性与阿尔茨海默病(AD)的关联性。方法以AD组和健康对照组基因型分布的OR值为统计量进行荟萃。全面检索相关文献并应用ReviewManager4.2软件对各研究结果进行一致性检验和数据合并。结果4个相关文献结果差异无统计学意义。研究共包括AD组1095例,健康对照组940例,校正后包括3个研究AD组972例,健康对照658例。携带至少一个缬氨酸等位基因(V)的基因型相对于甲硫氨酸纯合子(MM)(即V/MM的合并,OR为0.80,95%CI0.65～0.98,P=0.03)。携带至少一个甲硫氨酸等位基因(M)的基因型相对于缬氨酸纯合子(VV),即M/VV的合并(OR为1.38,95%CI1.01～1.89,P=0.04)。纯合子基因型相对于杂合子,即(MM+VV)/MV的合并(OR为1.10,95%CI0.89～1.35,P=0.38)。结论欧洲人群PRNP129密码子纯合子发生AD的危险性增高,但无统计学意义。MM纯合子AD风险增加,M基因型与AD发病风险增加有关联,V基因型与AD发病风险减少有关联。

Objective To examine the relationship between prion protein gene （PRNP） codon 129 polymorphism and Alzheimer＇s disease （AD） by means of meta-analysis. Methods Odds ratios （OR） of prion protein gene codon 129 genotype distribution in AD patients against healthy control was analysed. All the relevant studies were identified and poor-qualified studies were eliminated. A meta-analysis software, Review Manager 4. 2 was applied for investigating heterogeneity among individual studies and summarizing effects across studies. Results A total of 4 studies including 1095 patients and 940 controls were included but with rectification 972 cases and 658 controls of 3 studies were included. No heterogeneity among the studies was found. The pooled Peto OR （with 95 % CI） of （MM ＋ VV） vs MV is 1. 10（95% CI 0. 89 - 1.35 ,P =0. 38） , while the pooled Peto OR of V^＊ vs MM is 0. 80（95% CI 0. 65 -0.98 ,P =0. 03） and the pooled Peto OR of M^＊ vs VV is 1.38 （95% CI 1.01 - 1.89,P=0.04）. Conclusion In European population , PRNP M and V homozygosity is not statistically significantly associated with the onset of AD. M/^＊ genotype is associated with increased risk of AD while V/^＊ genotype is associated with a decreased risk of AD.