谷胱甘肽硫转移酶Pi基因多态性与Alzheimer病的关系

目的研究谷胱甘肽硫转移酶Pi(GSTPi)基因多态性与Alzheimer病(AD)的关系。方法 AD患者48例,按1:2匹配选择与AD患者同性别、同年龄、同文化程度、无血缘关系、认知功能正常、身体健康的96例老人作为正常对照,外周血提取基因组DNA,聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测GSTPi基因第5外显子rs1695位点和第6外显子rs1138272位点基因型。结果 rs1695位点存在A/A、A/G和G/G三种基因型;rs1138272位点存在C/C和C/T两种基因型,未发现T/T型。AD组和对照组rs1695位点基因型分布差异无统计学意义(P>0.05),但AD组等位基因G的频率(32.3%)明显高于对照组(21.9%)(P=0.05)。AD组和对照组rs1138272位点基因型分布及等位基因频率差异无统计学意义(P>0.05)。GSTPi基因染色体单体型G/T(即rs1695位点为等位基因G,rs1138272位点为等位基因T)的频率,AD组(9.1%)明显高于对照组(2.4%),差异无统计学意义(P=0.01)。结论 GSTPi基因rs1695位点等位基因G和rs1138272位点等位基因T可增加AD发生的危险,尤其rs1695位点等位基因G可能与AD发病关系更大。

Correlation between polymorphisms of glutathione-S transferase Pi gene and Alzheimer's disease

Objective To investigate the correlation between polymorphisms of glutathione S transferase Pi gene and AD.Methods The polymorphisms of glutathione-S genes at rs1695 and rs1138272 sites were detected by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP） in 48 Alzheimer＇s disease （AD） patients and 96 healthy controls matched for age,sex and educational level.Results A/A,A/G and G/G genotypes were detected in rs1695 site.The frequency of G allele is obviously higher in AD group （32.3％） than in healthy controls （21.9％） （P =0.05）.In rs1138272 site,C/C and C/T genotypes were present,but T/T genotype was not found.The distribution of alleles and genotypes at rs1138272 site had no difference between AD group and control group.The frequency of GSTPi G/T haplotype was higher in AD （9.1％） group than in controls （2.4％）significantly （odds ratio =4.05; P =0.01）.Conclusion GSTPi G allelic variant at rs1695 site and GSTPi T at rs1138272 site should be considered a risk factor for A D,in particularly G allele variant at rs1695 site.