School of Clinical Medicine, Dali University, Dali, Yunnan, 671000, PR China.
The First Hospital of Liangshan, Xichang, Sichuan, 615000, PR China.
BMC Med Genomics. 2024 Aug 22;17(1):219. doi: 10.1186/s12920-024-01992-7.
Ischemic stroke (IS) is a major cause of death and disability worldwide. Genetic factors are important risk factors for the development of IS. The quinone oxidoreductase 1 gene (NQO1) has antioxidant, anti-inflammatory, and cytoprotective properties. Thus, in this study, we investigated the relationship between NQO1 gene polymorphism and the risk of IS.
Peripheral blood was collected from 143 patients with IS and 124 the control groups in Yunnan, China, and NQO1 rs2917673, rs689455, and rs1800566 were genotyped. Logistic regression was used to analyze the relationship between the three NQO1 loci and IS susceptibility. The difference in the expression levels of NQO1 between the control groups and IS groups was verified using public databases and enzyme-linked immunosorbent assay.
The rs2917673 locus increased the risk of IS by 2.375 times in TT genotype carriers under the co-dominance model compared with CC carriers and was statistically associated with the risk of IS (OR = 2.375, 95% CI = 1.017-5.546, P = 0.046). In the recessive model, TT genotype carriers increased IS risk by 2.407 times compared with CC/CT carriers and were statistically associated with the risk of IS (OR = 2.407, 95% CI = 1.073-5.396, P = 0.033).
NQO1 rs2917673 polymorphism is significantly associated with IS. Mutant TT carriers are risk factors for IS.
缺血性脑卒中（IS）是全球范围内导致死亡和残疾的主要原因。遗传因素是 IS 发生的重要危险因素。醌氧化还原酶 1 基因（NQO1）具有抗氧化、抗炎和细胞保护作用。因此，在这项研究中，我们研究了 NQO1 基因多态性与 IS 风险之间的关系。
在中国云南采集了 143 例 IS 患者和 124 例对照组的外周血，对 NQO1 rs2917673、rs689455 和 rs1800566 进行基因分型。采用 logistic 回归分析三个 NQO1 位点与 IS 易感性的关系。使用公共数据库和酶联免疫吸附试验验证对照组和 IS 组之间 NQO1 表达水平的差异。
在共显性模型中，与 CC 携带者相比，rs2917673 位点 TT 基因型携带者发生 IS 的风险增加了 2.375 倍，且与 IS 的发生风险相关（OR=2.375，95%CI=1.017-5.546，P=0.046）。在隐性模型中，与 CC/CT 携带者相比，TT 基因型携带者发生 IS 的风险增加了 2.407 倍，且与 IS 的发生风险相关（OR=2.407，95%CI=1.073-5.396，P=0.033）。
NQO1 rs2917673 多态性与 IS 显著相关。突变 TT 携带者是 IS 的危险因素。
