{"title":"GWAS 突破:绘制从一个基因座到 393 个重大 CAD 关联的历程图。","authors":"Rédouane Aherrahrou, Tobias Reinberger, Satwat Hashmi, Jeanette Erdmann","doi":"10.1093/cvr/cvae161","DOIUrl":null,"url":null,"abstract":"<p><p>Coronary artery disease (CAD) poses a substantial threat to global health, leading to significant morbidity and mortality worldwide. It has a significant genetic component that has been studied through genome-wide association studies (GWAS) over the past 17 years. These studies have made progress with larger sample sizes, diverse ancestral backgrounds, and the discovery of multiple genomic regions related to CAD risk. In this review, we provide a comprehensive overview of CAD GWAS, including information about the genetic makeup of the disease and the importance of ethnic diversity in these studies. We also discuss challenges of identifying causal genes and variants within GWAS loci with a focus on non-coding regions. Additionally, we highlight tissues and cell types relevant to CAD, and discuss clinical implications of GWAS findings including polygenic risk scores, sex-specific differences in CAD genetics, ethnical aspects of personalized interventions, and GWAS guided drug development.</p>","PeriodicalId":9638,"journal":{"name":"Cardiovascular Research","volume":null,"pages":null},"PeriodicalIF":10.2000,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"GWAS breakthroughs: mapping the journey from one locus to 393 significant coronary artery disease associations.\",\"authors\":\"Rédouane Aherrahrou, Tobias Reinberger, Satwat Hashmi, Jeanette Erdmann\",\"doi\":\"10.1093/cvr/cvae161\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Coronary artery disease (CAD) poses a substantial threat to global health, leading to significant morbidity and mortality worldwide. It has a significant genetic component that has been studied through genome-wide association studies (GWAS) over the past 17 years. These studies have made progress with larger sample sizes, diverse ancestral backgrounds, and the discovery of multiple genomic regions related to CAD risk. In this review, we provide a comprehensive overview of CAD GWAS, including information about the genetic makeup of the disease and the importance of ethnic diversity in these studies. We also discuss challenges of identifying causal genes and variants within GWAS loci with a focus on non-coding regions. Additionally, we highlight tissues and cell types relevant to CAD, and discuss clinical implications of GWAS findings including polygenic risk scores, sex-specific differences in CAD genetics, ethnical aspects of personalized interventions, and GWAS guided drug development.</p>\",\"PeriodicalId\":9638,\"journal\":{\"name\":\"Cardiovascular Research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":10.2000,\"publicationDate\":\"2024-11-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cardiovascular Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/cvr/cvae161\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cardiovascular Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/cvr/cvae161","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
GWAS breakthroughs: mapping the journey from one locus to 393 significant coronary artery disease associations.
Coronary artery disease (CAD) poses a substantial threat to global health, leading to significant morbidity and mortality worldwide. It has a significant genetic component that has been studied through genome-wide association studies (GWAS) over the past 17 years. These studies have made progress with larger sample sizes, diverse ancestral backgrounds, and the discovery of multiple genomic regions related to CAD risk. In this review, we provide a comprehensive overview of CAD GWAS, including information about the genetic makeup of the disease and the importance of ethnic diversity in these studies. We also discuss challenges of identifying causal genes and variants within GWAS loci with a focus on non-coding regions. Additionally, we highlight tissues and cell types relevant to CAD, and discuss clinical implications of GWAS findings including polygenic risk scores, sex-specific differences in CAD genetics, ethnical aspects of personalized interventions, and GWAS guided drug development.
期刊介绍:
Cardiovascular Research
Journal Overview:
International journal of the European Society of Cardiology
Focuses on basic and translational research in cardiology and cardiovascular biology
Aims to enhance insight into cardiovascular disease mechanisms and innovation prospects
Submission Criteria:
Welcomes papers covering molecular, sub-cellular, cellular, organ, and organism levels
Accepts clinical proof-of-concept and translational studies
Manuscripts expected to provide significant contribution to cardiovascular biology and diseases