Genetics of coronary artery disease in the post-GWAS era,Journal of Internal Medicine

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Genetics of coronary artery disease in the post-GWAS era
Journal of Internal Medicine ( IF 9.0 ) Pub Date : 2021-07-08 , DOI: 10.1111/joim.13362
Zhifen Chen _{1,

2} , Heribert Schunkert _{1,

2}

Affiliation

During the past decade, genome-wide association studies (GWAS) have transformed our understanding of many heritable traits. Three recent large-scale GWAS meta-analyses now further markedly expand the knowledge on coronary artery disease (CAD) genetics in doubling the number of loci with genome-wide significant signals. Here, we review the unprecedented discoveries of CAD GWAS on low-frequency variants, underrepresented populations, sex differences and integrated polygenic risk. We present the milestones of CAD GWAS and post-GWAS studies from 2007 to 2021, and the trend in identification of variants with smaller odds ratio by year due to the increasing sample size. We compile the 321 CAD loci discovered thus far and classify candidate genes as well as distinct functional pathways on the road to indepth biological investigation and identification of novel treatment targets. We draw attention to systems genetics in integrating these loci into gene regulatory networks within and across tissues. We review the traits, biomarkers and diseases scrutinized by Mendelian randomization studies for CAD. Finally, we discuss the potentials and concerns of polygenic scores in predicting CAD risk in patient care as well as future directions of GWAS and post-GWAS studies in the field of precision medicine.

中文翻译：

后 GWAS 时代冠状动脉疾病的遗传学

在过去十年中，全基因组关联研究 (GWAS) 改变了我们对许多遗传性状的理解。最近的三项大规模 GWAS 荟萃分析现在进一步显着扩展了冠状动脉疾病 (CAD) 遗传学的知识，使具有全基因组显着信号的基因座数量增加了一倍。在这里，我们回顾了 CAD GWAS 在低频变异、代表性不足的人群、性别差异和综合多基因风险方面的前所未有的发现。我们介绍了 2007 年至 2021 年 CAD GWAS 和后 GWAS 研究的里程碑，以及由于样本量的增加而逐年识别优势比较小的变异的趋势。我们汇编了迄今为止发现的 321 个 CAD 基因座，并对候选基因以及不同的功能途径进行分类，以深入生物学研究和识别新的治疗靶点。我们提请注意系统遗传学将这些基因座整合到组织内和组织间的基因调控网络中。我们回顾了孟德尔随机研究对 CAD 的特征、生物标志物和疾病进行审查。最后，我们讨论了多基因评分在预测患者护理中 CAD 风险的潜力和关注点，以及 GWAS 和精准医学领域后 GWAS 研究的未来方向。孟德尔随机研究对 CAD 的生物标志物和疾病进行了仔细检查。最后，我们讨论了多基因评分在预测患者护理中 CAD 风险的潜力和关注点，以及 GWAS 和精准医学领域后 GWAS 研究的未来方向。孟德尔随机研究对 CAD 的生物标志物和疾病进行了仔细检查。最后，我们讨论了多基因评分在预测患者护理中 CAD 风险的潜力和关注点，以及 GWAS 和精准医学领域后 GWAS 研究的未来方向。

更新日期：2021-07-08

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