Kim Su Kang, Yim Sung-Vin, Lee Byung-Cheol
Kohwang Medical Research Institute;
Exp Ther Med. 2012 Feb;3(2):261-268. doi: 10.3892/etm.2011.388. Epub 2011 Nov 22.
The human cytochrome P450 (CYP) superfamily includes at least 57 genes that encode enzymes with diverse metabolic and biosynthetic functions. This study was conducted in order to investigate the associations between polymorphisms in CYP superfamily genes (CYP11B2, CYP17A1, CYP2B6, CYP2C9, CYP2E1 and CYP7A1) and ischemic stroke (IS). Six single nucleotide polymorphisms (SNPs) of CYP superfamily genes were selected and genotyped by direct sequencing in 121 patients with IS and 321 control subjects. The genetic data were analyzed using SNPStats and SPSS 18.0. Multiple logistic regression models (codominant 1, codominant 2, dominant, recessive and log-additive) were used to evaluate odds ratios (ORs), 95% confidence intervals (CIs) and p-values. The rs179998 SNP of CYP11B2 was significantly associated with IS (p=0.0336 in a log-additive model). The rs3813867 SNP of CYP2E1 was significantly associated with smoking in IS (p=0.0336 in a log-additive model). The rs1799998 SNP of CYP11B2 and rs3808607 of CYP7A1 were related to diabetes mellitus in IS (p<0.05). CYP11B2, CYP2E1 and CYP7A1 SNPs were associated with IS in the population studied. Further study is required to confirm these associations and to determine their biological significance.
人类细胞色素P450（CYP）超家族包含至少57个基因，这些基因编码具有多种代谢和生物合成功能的酶。本研究旨在调查CYP超家族基因（CYP11B2、CYP17A1、CYP2B6、CYP2C9、CYP2E1和CYP7A1）多态性与缺血性中风（IS）之间的关联。选择了CYP超家族基因的6个单核苷酸多态性（SNP），并通过直接测序对121例IS患者和321例对照受试者进行基因分型。使用SNPStats和SPSS 18.0分析遗传数据。采用多个逻辑回归模型（共显性1、共显性2、显性、隐性和对数相加模型）评估比值比（OR）、95%置信区间（CI）和p值。CYP11B2的rs179998 SNP与IS显著相关（对数相加模型中p = 0.0336）。CYP2E1的rs3813867 SNP与IS患者吸烟显著相关（对数相加模型中p = 0.0336）。CYP11B2的rs1799998 SNP和CYP7A1的rs3808607与IS患者糖尿病相关（p < 0.05）。在本研究人群中，CYP11B2、CYP2E1和CYP7A1 SNP与IS相关。需要进一步研究以证实这些关联并确定其生物学意义。
