PSMB7基因与阿尔茨海默病的相关性研究

目的探讨蛋白酶体亚基-B7（PSMB7）基因多态性、载脂蛋白E（ApoE）基因多态性和阿尔茨海默病（AD）的相关性。方法 376例日本AD患者（324例迟发型和52例早发型AD）和378例非痴呆对照组中,用TaqMan-PCR法检测PSMB7基因rs7871785（＋561G/A）、rs3780199（＋26651C/T）及APOE基因的单核苷酸多态性,并分析与AD的相关性。结果 PSMB7基因rs7871785 A/A纯合子频率在早发型AD中明显高于对照组（0.75 vs 0.60,P=0.037）,而rs3780199 C/C纯合子频率在AD中明显高于对照组（0.23 vs 0.15,P=0.009）。在非APOE-ε4携带者中,AD患者rs3780199 C/C纯合子频率明显高于对照组（0.23 vs 0.16,P=0.005）。结论 PSMB7基因rs7871785多态位点A/A纯合子与早发型AD存在相关性,而rs3780199C/C纯合子独立于APOE-ε4基因与迟发型AD存在相关性。

Association of PSMB7 gene polymorphisms with Alzheimer＇s disease

Objective To study the association of proteasome subunit-beta type-7（PSMB7） and apolipoprotein E（APOE） gene polymorphisms with Alzheimer＇s disease（AD）.Methods Single nucleotide polymorphisms（SNPs） of PSMB7 gene rs7871785（＋561G/A） and rs3780199（＋26651C/T）] and APOE gene were analyzed by TaqMan-PCR in 376 Japanese AD cases（including 324 late-onset AD and 52 early-onset AD） and 378 non-demented controls.Results The frequency of AA genotype of rs7871785 in early-onset AD and that of CC genotype of rs3780199 in AD were significantly higher compared with controls（0.75 vs 0.60,P=0.037;0.23 vs 0.15,P=0.009）.Of the individuals without APOE-ε4 gene,only CC genotype of rs3780199 was associated with AD（0.23 vs 0.16,P=0.005）.Conclusion AA genotype of rs7871785 is related to the early-onset AD,while CC genotype of rs3780199 is associated with late-onset AD independent of APOE-ε4 gene.