Genetic Polymorphism of NQO1 Gene is Associated with Susceptibility of Ischemic Stroke in Chinese Han Nationality

Abstract

Quinone Oxidoreductase 1 gene (NQO1) polymorphism is associated with the risk of cardiovascular disease. This study was designed to investigate the relationship between NQO1 gene polymorphism and ischemic stroke susceptibility in Chinese Han nationality. Patients and Methods: One hundred and forty-one patients diagnosed with ischemic stroke and 139 matched control groups were recruited in this study. The polymorphism distribution of rsl800566 locus and rs10517 locus of NQO1 gene was genotyped via TaqMan assay, and the concentration of Oxidized low-density lipoprotein (ox-LDL) in the blood of the subjects was detected by enzyme linked immunosorbent assay (ELISA). The relationship between the polymorphism distribution and the susceptibility to ischemic stroke was evaluated. Results:The frequency distribution of the three genotypes of NQO1 rs1800566 between the case group and the control group was statistically significant, and cases carrying CT and TT genotype were less likely to suffer from ischemic stroke. Compared with individuals carrying T allele, C allele carriers have higher risk of ischemic stroke. However, there was no significant difference in frequency distribution among the three genotypes of NQO1 rs10517 between controls and patients. Conclusion:The NQO1 rs1800566 C allele may be a novel marker associated with ischemic stroke susceptibility in Chinese Han population. Polymorphism of rsl800566 locus in NQO1 gene may be protective against ischemic stroke risk.

Impact of NQO1 dysregulation in CNS disorders

“…A study on 141 patients with ischemic stroke and 139 matched control subjects has shown a significant association between NQO1 gene polymorphisms and the incidence of ischemic stroke. This investigation revealed a correlation between the cc genotype of NQO1 rs1800566 and the occurrence of ischemic stroke [ 176 ]. An investigation on the clinical efficacy of butylphthalide in 127 patients with acute ischemic stroke revealed a link between the improvement of the cerebrovascular vascular reserve function and enhancement of the establishment of collateral compensatory vessels with changes in the expression of Nrf2‑KEAP1‑ARE‑NQO1 signaling pathway.…”

NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population

“…It is located on chromosome 16 and is present in human endothelial tissue. The gene encodes a avoprotein called NAD(P)H dehydrogenase quinone 1 [14][15][16]. NQO1 is an obligate two-electron reductase characterized by its ability to utilize NADH or NADPH as a reduction cofactor and its inhibitory effect as dicoumarol; it reacts with NADH to catalyze the two-electron reduction of quinones into redox-stable hydroquinone, thereby increasing intracellular NAD + levels, which in turn prevents the formation of free radicals [17].…”

“…Studies have reported that individuals carrying two mutant genomic alleles have no NQO1 activity, whereas heterozygous individuals with one mutant allele have low to moderate NQO1 activity compared with wild-type individuals [14]. Multiple studies have shown that NQO1 polymorphisms are associated with the risk of cardiovascular diseases [15]. Polymorphic forms of NQO1 (p.P187S) are associated with an increased cancer risk and certain neurological diseases, possibly because of their role in antioxidant defense.…”