细胞色素P4502C8和细胞色素P4502J2基因多态性与中国汉族散发性阿尔茨海默病的相关性研究

Relationship between genetic polymorphisms of cytochrome P4502C8 and cytochrome P4502J2 with the risk of Alzheimer's disease in Chinese Han population

目的：探讨细胞色素P450氧化酶（CYP）2C8和2J2基因多态性与中国汉族散发性阿尔茨海默病（ AD）的相关性。方法收集206例AD患者及256例健康对照的外周血标本，用全血基因组的提取试剂盒提取基因组的DNA，采用基质辅助激光解吸电离飞行时间质谱（ MALDI－TOF－MS）的方法，对CYP2C8（rs1058932，rs2275622）、CYP2J2（rs1155002，rs2271800）基因多态性进行检测。结果候选4个多态性的基因型和等位基因的频率分布在2组间比较差异均无统计学意义（ P＞0.05）。分别对CYP2C8／2J2的两个SNPs位点构建单体型， CYP2C8的单体型 C －T 与 AD 组呈正相关（ P ＜0.001， OR ＝2.57，95％CI：1.97～3.35）。结论 CYP2C8（rs1058932，rs2275622）单体型C－T增加了中国汉族散发性AD的发病风险。

Objective To detect the association between cytochrome P450 2C8 （ CYP2C8 ） and CYP2C9 polymorphisms and the risk of Alzheimer′s disease （ AD ） in Chinese Han population.Methods A case-control study was carried out to compare the distribution of geno-types and genetic frequencies of CYP2C8 and CYP2C9 polymorphisms between Alzheimer′s disease （ n =206 ） and healthy volunteers （ n=256 ） .Genomic DNA was extracted from whole blood using DNA blood Kit.Matrix-assisted laser desorption ionization time-of -flight mass spectrometry （ MALDI-TOF-MS） .Matrix-assisted laser desorp-tion ionization time-of-flight mass spectrometry （ MALDI-TOF-MS） was used to identify the polymorphisms of CYP2C8 and CYP2J2. Results There were no significant differences of CYP2C8 and CYP2C9 genotypes between the cases and control groups.The haplotype C-T of CYP2C8 associated with the AD group（ P〈0.001,OR=2.57,95%CI：1.97 -3.35 ） .Conclusion The haplotype C -T of CYP2C8 （ rs1058932, rs2275622 ） increased the risk of Alzheimer′s disease in Chinese Han population.