嵌合蛋白1基因启动子两多态位点与阿尔茨海默病的相关性研究

Association of chimerin 1(CHN1) gene promoter polymorphisms with Alzheimer’s disease

目的探讨嵌合蛋白1(chimerin1,CHN1)基因启动子区多态性、载脂蛋白E(apolipoprotein,APOE)基因多态性和阿尔茨海默病(Alzheimer's disease,AD)的相关性。方法通过使用TaqMan-PCR法检测单核苷酸多态性方法,观察380例日本AD患者(包括327例迟发型AD与53例早发型AD)和380例非痴呆对照组CHN1基因启动子(rs3732315与rs1320875)及APOE基因的多态性分布,并分析与AD的相关性。结果CHN1基因启动子rs3732315上A/T多态位点与rs1320875上A/G多态位点分别与AD无明显相关性(P值分别为0.094,0.17)。进一步在LOAD,EOAD与对照组的比较中发现rs3732315AA基因型与rs1320875GG基因型与EOAD无明显相关(P值分别为0·055,0·065)。结论CHN1基因启动子区rs3732315与rs1320875多态位点与AD无明显相关性,但不能排除rs3732315AA基因型与rs1320875GG基因型微弱增加了EOAD的发病风险,其真正意义有待在大样本、多中心人群中进一步阐明。

Objective To investigate the association of chimerin1（CHN1） gene promoter and APOE polymorphisms with Alzheimer’s disease（AD）.Methods Using the single nucleotide polymorphism （SNP） and TaqMan-PCR method the polymorphisms of CHN1 gene in promoter （rs3732315 and rs1320875） and APOE were analyzed in 380 AD （including 327 late-onset AD cases and 53 early-onset AD cases） and 380 controls without dementia in a Japanese population.Results There were no significant association between two polymorphisms（rs3732315A/T and rs1320875A/G） and AD （P values were 0.094,0.17,respectively）,the AA genotype （rs3732315） and GG genotype （rs1320875） were significantly different between EOAD cases and controls （P values were 0.055,0.065,respectively）.Conclusions The polymorphisms in promoter of CHN1 were not significantly associated with AD risks.However a weak association between CHN1（AA genotype of rs3732315 and GG genotype of rs1320875） and EOAD cannot be excluded.Further investigation of the association in a larger sample from multiple centers is required.