一个同属变异,GABRG2 rs211037可能是偏头痛的预测性遗传标记:来自巴基斯坦的病例对照研究

T. Saleem, H. Maqbool, S. Suqaina, Mavra Irfan, Raana Zafar, N. Sheikh
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引用次数: 0

摘要

背景:偏头痛是一种严重的神经血管疾病,伴有一些暂时性症状,如伴有感觉和自主神经紊乱的单侧头痛发作。它影响了全世界12%的人口。女性比男性更容易患偏头痛。遗传和环境因素对其症状有一定的致病作用。γ -氨基丁酸(GABA)神经递质在偏头痛病理生理中起着潜在的作用,这促使我们评估γ -氨基丁酸a型受体γ 2亚基基因(GABRG2)多态性与偏头痛发作风险之间的关系。方法本病例-对照研究纳入220例(对照组100例;120名患者)。所有参与者的血液样本被采集,DNA被分离。选择GABRG2基因外显子5、7、8的snp (rs211037、rs121909672和T813C)对病例和对照组进行基因分型。结果:在rs211037多态性位点发现了沉默多态性,而在病例和对照人群中,其他目标位点均未发现变异。统计学分析表明,基因型(p=<0.05)和等位基因频率(p=< 0.001)差异有统计学意义;或2.039;95% CI 1.346-3.089)和优势模型(p = <0.001;或2.836;95% ci 1.618-4.970)。结论:本研究结果显示,巴基斯坦人群中GABRG2基因rs211037多态性与偏头痛有显著相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Synonymous Variant, GABRG2 rs211037 might be a Predictive Genetic Marker of Migraine: A Case Control Study from Pakistan
Background: Migraine is a severe neurovascular disease with some temporary symptoms like unilateral headache attacks associated with sensory and autonomic disturbances. It affects 12% of the general population worldwide. Females are more susceptible to migraine than males. The genetic and environmental factors contribute as a causative agent to its symptomatology. Gamma-aminobutyric acid (GABA) neurotransmitter plays a potential role in migraine pathophysiology that prompted us to evaluate the association between gamma-aminobutyric acid type a receptor gamma two subunit gene (GABRG2) polymorphisms and the risk of a migraine attack. Methods The present case-control study included 220 subjects (100 control; 120 patients). Blood samples were taken from all the participants and DNA was isolated. The selected SNPs (rs211037, rs121909672, and T813C) of exons 5, 7, and 8 of the GABRG2 gene were genotyped for cases and controls. Results: A silent polymorphism was found at the rs211037 polymorphic site, while no variation was found on other targeted sites either in the case or control population.  Statistical analysis indicated significant differences in genotypic (p=<0.05) and allelic frequencies (p = <0.001; OR 2.039; 95% CI 1.346-3.089) and for dominant model (p = <0.001; OR 2.836; 95% CI 1.618-4.970). Conclusion: The result of our study showed that rs211037 polymorphism of the GABRG2 gene was significantly associated with migraines in the Pakistani population.
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