Deng Xiao-Dong, Ke Jian-Lin, Chen Tai-Yu, Gao Qin, Zhao Zhuo-Lin, Zhang Wei, Liu Huan, Xiang Ming-Liang, Wang Li-Zhen, Ma Ying, Liu Yun
Department of Forensic Pathology, School of Basic Medical Science and Forensic Medicine, North Sichuan Medical College, Nanchong, China.
Department of Intergrated Western and Chinese Colorectal and Anal Surgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, China.
Front Neurol. 2023 Jan 12;13:998428. doi: 10.3389/fneur.2022.998428. eCollection 2022.
Excision repair cross-complementing group 1 () was considered a potential candidate gene for ischemic stroke, and its polymorphisms might be associated with the susceptibility to ischemic stroke.
A total of 513 patients with ischemic stroke and 550 control subjects were recruited. The expression levels of messenger RNA (mRNA) in peripheral blood mononuclear cells and its protein in plasma were detected by quantitative real-time PCR () and enzyme-linked immunosorbent assay (), respectively. polymorphism of was detected by PCR-restriction fragment length polymorphism () and was confirmed by sequencing. The association between the polymorphism or its expression and ischemic stroke was further analyzed.
The mRNA level in patients with ischemic stroke was lower than that in the control group ( < 0.05). However, the protein level in patients with ischemic stroke was higher than that in the control group ( < 0.05). The A allele of was associated with increased ischemic stroke risk (OR = 1.287, 95% CI = 1.076-1.540, = 0.006). The association between polymorphism and ischemic stroke susceptibility was found in both recessive (OR = 2.638, 95% CI = 1.744-3.989, < 0.001) and additive models (OR = 1.309, 95% CI = 1.028-1.667, = 0.031), respectively. Similar results were obtained in the recessive model (OR = 2.015, 95% CI = 1.087-3.704, = 0.026) after adjusting for demographic information and other variables. Additionally, the level of mRNA in the CC/CA genotype was higher than that in the AA genotype ( < 0.05).
It was suggested that the polymorphism was associated with ischemic stroke susceptibility in a Chinese Han population and that an A allele of was related to increased ischemic stroke risk. The altered expression level caused by the polymorphism might participate in the pathophysiological process of ischemic stroke.
切除修复交叉互补基因1（）被认为是缺血性中风的一个潜在候选基因，其多态性可能与缺血性中风的易感性相关。
共招募了513例缺血性中风患者和550例对照者。分别采用定量实时聚合酶链反应（）和酶联免疫吸附测定（）检测外周血单个核细胞中信使核糖核酸（mRNA）的表达水平及其血浆中的蛋白质水平。采用聚合酶链反应-限制性片段长度多态性（）检测的多态性，并通过测序进行确认。进一步分析多态性或其表达与缺血性中风之间的关联。
缺血性中风患者的mRNA水平低于对照组（<0.05）。然而，缺血性中风患者的蛋白质水平高于对照组（<0.05）。的A等位基因与缺血性中风风险增加相关（比值比=1.287，95%可信区间=1.076-1.540，=0.006）。在隐性模型（比值比=2.638，95%可信区间=1.744-3.989，<0.001）和加性模型（比值比=1.309，95%可信区间=1.028-1.667，=0.031）中均发现多态性与缺血性中风易感性之间的关联。在调整人口统计学信息和其他变量后，在隐性模型中也获得了类似结果（比值比=2.015，95%可信区间=1.087-3.704，=0.026）。此外，CC/CA基因型中的mRNA水平高于AA基因型（<0.05）。
提示多态性与中国汉族人群缺血性中风易感性相关，且的A等位基因与缺血性中风风险增加有关。由多态性引起的表达水平改变可能参与了缺血性中风的病理生理过程。
