Association of Estrogen Receptor-α and Aryl Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian Population: A Pilot Study

IF 2.8 4区 医学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Journal of Molecular Neuroscience Pub Date : 2024-09-12 DOI:10.1007/s12031-024-02255-x
Sara A. Aboelroos, Dina Gamal El Segaey, Amr Kamal Abd Elgawad, Marwa Orabi, Marwa Hussein Mohamed, Nashwa R. Hassan
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Abstract

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.

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埃及人群中雌激素受体-α和芳香烃受体基因多态性与缺血性中风的关系:一项试点研究
中风是全球第二大死因,也是导致残疾的主要因素,在发展中国家发病率最高。缺血性中风(IS)是一种由遗传和环境相互作用导致的复杂疾病。本研究是一项探索雌激素受体-α(ESR1)和芳基烃受体(AHR)SNPs 与缺血性中风关系的试验性研究。这项病例对照研究纳入了 60 名 IS 患者和 60 名匹配的健康对照者。采用实时 PCR 对 ESR1 PvuII(rs2234693)、ESR1 XbaI(rs9340799)和 AHR rs2066853 SNPs 进行了基因分型。ESR1 PvuII TC和CC基因型与IS相关(几率比(OR)= 2.821,95%置信区间(CI)= 1.204-6.609,p = 0.017;OR = 9.455,95% CI = 2.222-40.237,p = 0.002),女性IS的TC基因型与IS相关(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(分别为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),男性IS中的AG和GG基因型与IS相关(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 中的 GG 基因型(95% CI = 7.259-1115.914,p <0.001)。ESR1的PvuII和XbaI单倍型C-A、T-G和C-A增加了男女两性、男性IS和女性IS(C-A除外)的IS风险。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与埃及人的IS有关。然而,这只是一个小样本,研究结果应在更大的人群中重复。
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来源期刊
Journal of Molecular Neuroscience
Journal of Molecular Neuroscience 医学-神经科学
CiteScore
6.60
自引率
3.20%
发文量
142
审稿时长
1 months
期刊介绍: The Journal of Molecular Neuroscience is committed to the rapid publication of original findings that increase our understanding of the molecular structure, function, and development of the nervous system. The criteria for acceptance of manuscripts will be scientific excellence, originality, and relevance to the field of molecular neuroscience. Manuscripts with clinical relevance are especially encouraged since the journal seeks to provide a means for accelerating the progression of basic research findings toward clinical utilization. All experiments described in the Journal of Molecular Neuroscience that involve the use of animal or human subjects must have been approved by the appropriate institutional review committee and conform to accepted ethical standards.
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