Clinical and Chemical Pathology Department, Faculty of Medicine, Suez Canal University, Ring Road, Ismailia, 41522, Egypt.
Department of Anesthesia and ICU, Faculty of Medicine, Suez Canal University, Ismailia, 41522, Egypt.
J Mol Neurosci. 2024 Sep 12;74(3):85. doi: 10.1007/s12031-024-02255-x.
Stroke is the second leading cause of death and a major contributor to disability worldwide, with the highest prevalence in developing countries. Ischemic stroke (IS) is a complex disease resulting from genetic and environmental interactions. The present work is a pilot study exploring the association of estrogen receptor-α (ESR1) and aryl hydrocarbon receptor (AHR) SNPs with IS in a small Egyptian population of IS patients. Sixty IS patients and 60 matched healthy controls were included in this case-control study. Genotyping of ESR1 PvuII (rs2234693), ESR1 XbaI (rs9340799), and AHR rs2066853 SNPs was performed using real-time PCR. ESR1 PvuII TC and CC genotypes were associated with IS (odds ratio (OR) = 2.821, 95% confidence interval (CI) = 1.204-6.609, p = 0.017, and OR = 9.455, 95% CI = 2.222-40.237, p = 0.002, respectively), and TC genotype in female IS (OR = 4.018, 95% CI = 1.117-14.455, p = 0.033). Additionally, ESR1 XbaI GA and GG genotypes were associated with IS (OR = 2.833, 95% CI = 1.190-6.749, p = 0.019, and OR = 34.000, 95% CI = 6.965-165.980, p < 0.001, respectively), and the AG and GG genotypes in male IS (OR = 3.378, 95% CI = 1.103-10.347, p = 0.033 and OR = 22.8, 95% CI = 2.580-201.488, p = 0.005, respectively) and the GG genotype in female IS (95% CI = 7.259-1115.914, p < 0.001). ESR1 PvuII and XbaI haplotypes C-A, T-G, and C-A increased the risk of IS in both genders, in male IS, and in female IS apart from C-A. The AG genotype of AHR rs2066853 was associated with male IS (OR = 6.900, 95% CI = 2.120-22.457 p = 0.001). ESR1 PvuII, ESR1 XbaI, and AHR rs2066853 SNPs are associated with IS in Egyptians. However, this is a small sample, and the findings should be replicated in a larger population.
中风是全球第二大致死原因和主要致残原因，发展中国家的发病率最高。缺血性中风（IS）是一种由遗传和环境相互作用引起的复杂疾病。本研究是一项探索雌激素受体-α（ESR1）和芳香烃受体（AHR）单核苷酸多态性（SNP）与埃及 IS 患者中风的关联的初步研究。纳入了 60 名 IS 患者和 60 名匹配的健康对照者进行这项病例对照研究。采用实时 PCR 对 ESR1 PvuII（rs2234693）、ESR1 XbaI（rs9340799）和 AHR rs2066853 SNP 进行基因分型。ESR1 PvuII TC 和 CC 基因型与 IS 相关（比值比（OR）=2.821，95%置信区间（CI）=1.204-6.609，p=0.017 和 OR=9.455，95%CI=2.222-40.237，p=0.002），并且 TC 基因型在女性 IS 中更为常见（OR=4.018，95%CI=1.117-14.455，p=0.033）。此外，ESR1 XbaI GA 和 GG 基因型与 IS 相关（OR=2.833，95%CI=1.190-6.749，p=0.019 和 OR=34.000，95%CI=6.965-165.980，p<0.001），并且在男性 IS 中，AG 和 GG 基因型（OR=3.378，95%CI=1.103-10.347，p=0.033 和 OR=22.8，95%CI=2.580-201.488，p=0.005）以及女性 IS 中 GG 基因型（95%CI=7.259-1115.914，p<0.001）更为常见。ESR1 PvuII 和 XbaI 单倍型 C-A、T-G 和 C-A 增加了两性、男性 IS 和女性 IS 中风的风险，除了 C-A 之外。AHR rs2066853 的 AG 基因型与男性 IS 相关（OR=6.900，95%CI=2.120-22.457，p=0.001）。ESR1 PvuII、ESR1 XbaI 和 AHR rs2066853 SNP 与埃及人 IS 相关。然而，这是一个小样本，研究结果应在更大的人群中进行复制。
