Tu Guolong, Zhan Wenliang, Sun Yao, Wu Jiamin, Xiong Zichao, Liu Jianfeng, Liu Yuanwei, Li Haiyue, Xia Ying
Department of Neurosurgery, Haikou Hospital Affiliated to Xiangya School of Medicine, Central South University, Haikou, 570208, Hainan, China.
Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, School of Medicine, Northwest University, Xi'an, 710069, Shaanxi, China.
J Mol Neurosci. 2020 Jul;70(7):1130-1139. doi: 10.1007/s12031-020-01520-z. Epub 2020 Apr 20.
Genetic factors have been demonstrated to play an important role in the pathology of ischemic stroke (IS). This study was conducted to explore the association between CYP2B6 polymorphisms and IS risk in a Chinese Han population. Four single-nucleotide polymorphisms (SNPs) in CYP2B6 from 477 cases and 495 controls were genotyped using the Agena MassARRAY. The odds ratio (OR) and 95% confidence interval (CI) were calculated under genetic models and haplotype analysis to assess the association between SNPs and IS risk. We found that rs2099361 was associated with an increased IS risk (CC vs. AA: overall: OR = 1.85, 95% CI: 1.16-2.93, P = 0.010; age ≤ 60: OR = 1.94, 95% CI: 1.02-3.70, P = 0.045; male: OR = 2.17, 95% CI: 1.22-3.86, P = 0.009). The GT genotype of rs4803420 was associated with a reduced IS risk (OR = 0.74, 95% CI: 0.57-0.98, P = 0.036); the GG genotype was associated with an increased IS risk in women (OR = 2.31, 95% CI: 1.00-5.31, P = 0.049). The rs1038376 polymorphism was associated with reduced IS risk for age ≤ 60 years (AT vs. TT: OR = 0.63, 95% CI: 0.40-0.99, P = 0.046). Interestingly, there were significant differences in some clinical indicator levels between case and control groups, and genotypes of SNPs. Our results indicated that CYP2B6 polymorphisms (rs2099361, rs4803420, and rs1038376) were associated with the risk of IS. Further studies are still needed to validate our findings with larger sample sizes.
遗传因素已被证明在缺血性中风(IS)的病理过程中起重要作用。本研究旨在探讨中国汉族人群中CYP2B6基因多态性与IS风险之间的关联。使用Agena MassARRAY对477例患者和495例对照的CYP2B6基因中的四个单核苷酸多态性(SNP)进行基因分型。在遗传模型和单倍型分析下计算比值比(OR)和95%置信区间(CI),以评估SNP与IS风险之间的关联。我们发现rs2099361与IS风险增加相关(CC与AA比较:总体:OR = 1.85,95% CI:1.16 - 2.93,P = 0.010;年龄≤60岁:OR = 1.94,95% CI:1.02 - 3.70,P = 0.045;男性:OR = 2.17,95% CI:1.22 - 3.86,P = 0.009)。rs4803420的GT基因型与IS风险降低相关(OR = 0.74,95% CI:0.57 - 0.98,P = 0.036);GG基因型与女性IS风险增加相关(OR = 2.31,95% CI:1.00 - 5.31,P = 0.049)。rs1038376多态性与年龄≤60岁的IS风险降低相关(AT与TT比较:OR = 0.63,95% CI:0.40 - 0.99,P = 0.046)。有趣的是,病例组和对照组之间以及SNP基因型之间的一些临床指标水平存在显著差异。我们的结果表明,CYP2B6基因多态性(rs2099361、rs4803420和rs1038376)与IS风险相关。仍需要进一步研究以更大样本量验证我们的发现。