探索雌激素与冠状动脉疾病全基因组关联研究确定的候选基因之间的关系

Ava P. Aminbakhsh, Emilie T. Théberge, Elizabeth Burden, Cindy Kalenga Adejumo, Anna Lehman, Tara L. Sedlak
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引用次数: 0

摘要

导言:冠状动脉疾病(CAD)是导致全球死亡的主要原因,在发病率、病理生理学和治疗效果方面存在着明显的流行病学性别差异。据推测,性类固醇(如雌激素)可能是造成这些性别差异的原因之一。CAD 的发病有相对较大的遗传因素,遗传率估计在 40-60% 之间。在过去二十年中,全基因组关联研究(GWAS)的计算方法、能力和可扩展性极大地促进了人们对哪些遗传候选基因会导致 CAD 的了解。本研究的目的是确定在 CAD 全基因组关联研究中发现的基因是否会受到雌激素的直接调节或间接下游靶点的影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Exploring associations between estrogen and gene candidates identified by coronary artery disease genome-wide association studies
Introduction Coronary artery disease (CAD) is the leading cause of death around the world, with well-described epidemiological sex and gender differences in prevalence, pathophysiology and management outcomes. It has been hypothesized that sex steroids, like estrogen, may contribute to these sex differences. There is a relatively large genetic component to developing CAD, with heritability estimates ranging between 40-60%. In the last two decades, the computational methods, capabilities and scalability of genome-wide association studies (GWAS) have contributed substantially to advancing the understanding of which genetic candidates contribute to CAD. The aim of this study was to determine if genes discovered in CAD GWASs are affected by estrogen by means of direct modulation or indirect down-stream targets.
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