AUTHOR=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 

TITLE=ERCC1 polymorphism and its expression associated with ischemic stroke in Chinese population

JOURNAL=Frontiers in Neurology

VOLUME=13

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.998428

DOI=10.3389/fneur.2022.998428

ISSN=1664-2295

ABSTRACT=<sec><title>Background</title><p>Excision repair cross-complementing group 1 (<italic>ERCC1</italic>) was considered a potential candidate gene for ischemic stroke, and its polymorphisms might be associated with the susceptibility to ischemic stroke.</p></sec><sec><title>Methods</title><p>A total of 513 patients with ischemic stroke and 550 control subjects were recruited. The expression levels of <italic>ERCC1</italic> messenger RNA (mRNA) in peripheral blood mononuclear cells and its protein in plasma were detected by quantitative real-time PCR (<italic>qPCR</italic>) and enzyme-linked immunosorbent assay (<italic>ELISA</italic>), respectively. <italic>Rs3212986</italic> polymorphism of <italic>ERCC1</italic> was detected by PCR-restriction fragment length polymorphism (<italic>RFLP-PCR</italic>) and was confirmed by sequencing. The association between the <italic>ERCC1 rs3212986</italic> polymorphism or its expression and ischemic stroke was further analyzed.</p></sec><sec><title>Results</title><p>The <italic>ERCC1</italic> mRNA level in patients with ischemic stroke was lower than that in the control group (<italic>P</italic> &lt; 0.05). However, the <italic>ERCC1</italic> protein level in patients with ischemic stroke was higher than that in the control group (<italic>P</italic> &lt; 0.05). The A allele of <italic>rs3212986</italic> was associated with increased ischemic stroke risk (OR = 1.287, 95% CI = 1.076–1.540, <italic>P</italic> = 0.006). The association between <italic>rs3212986</italic> polymorphism and ischemic stroke susceptibility was found in both recessive (OR = 2.638, 95% CI = 1.744–3.989, <italic>P</italic> &lt; 0.001) and additive models (OR = 1.309, 95% CI = 1.028–1.667, <italic>P</italic> = 0.031), respectively. Similar results were obtained in the recessive model (OR = 2.015, 95% CI = 1.087–3.704, <italic>P</italic> = 0.026) after adjusting for demographic information and other variables. Additionally, the level of <italic>ERCC1</italic> mRNA in the CC/CA genotype was higher than that in the AA genotype (<italic>P</italic> &lt; 0.05).</p></sec><sec><title>Conclusion</title><p>It was suggested that the <italic>ERCC1 rs3212986</italic> polymorphism was associated with ischemic stroke susceptibility in a Chinese Han population and that an A allele of <italic>rs3212986</italic> was related to increased ischemic stroke risk. The altered <italic>ERCC1</italic> expression level caused by the <italic>rs3212986</italic> polymorphism might participate in the pathophysiological process of ischemic stroke.</p></sec>