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.