Min Wang, Ying Shen, Yuan Gao, Huaqiu Chen, Fuhui Duan, Siying Li, Guangming Wang
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引用次数: 0
摘要
背景：缺血性中风（IS）是全球死亡和残疾的主要原因。遗传因素是导致缺血性中风的重要风险因素。醌氧化还原酶 1 基因（NQO1）具有抗氧化、抗炎和细胞保护特性。因此，本研究调查了 NQO1 基因多态性与 IS 风险之间的关系：方法：采集中国云南 143 名 IS 患者和 124 名对照组患者的外周血，对 NQO1 rs2917673、rs689455 和 rs1800566 进行基因分型。采用逻辑回归分析了三个 NQO1 基因位点与 IS 易感性之间的关系。利用公共数据库和酶联免疫吸附试验验证了对照组和 IS 组之间 NQO1 表达水平的差异：结果：在共显性模型中，rs2917673位点使TT基因型携带者与CC基因型携带者相比，IS风险增加了2.375倍，并且与IS风险有统计学相关性（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 基因型携带者的 IS 风险增加了 2.407 倍，且与 IS 风险在统计学上相关（OR = 2.407，95% CI = 1.073-5.396，P = 0.033）：结论：NQO1 rs2917673 多态性与 IS 显著相关。突变 TT 携带者是 IS 的危险因素。
NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population.
Background: 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.
Methods: 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.
Results: 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).
Conclusions: NQO1 rs2917673 polymorphism is significantly associated with IS. Mutant TT carriers are risk factors for IS.
期刊介绍：
BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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