{"title":"血脂异常和动脉粥样硬化性心血管疾病的多基因风险评分:临床实施进展","authors":"Michael G. Levin MD , Daniel J. Rader MD","doi":"10.1016/j.beem.2022.101702","DOIUrl":null,"url":null,"abstract":"<div><p><span>Recent discoveries from the past 15 years of human genetic<span> association studies have provided new insights into the common genetic<span> basis of coronary artery disease and its risk factors including molecular traits like circulating lipid/lipoprotein levels. Polygenic risk scores, which aggregate findings from these large genetic studies, have been developed to predict clinical disease and stratify treatment response in </span></span></span>clinical trials<span>. In this review, we describe common methods for calculating polygenic risk scores, highlight examples related to coronary artery disease and lipid traits, and discuss opportunities and challenges for clinical implementation.</span></p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":null,"pages":null},"PeriodicalIF":6.1000,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Polygenic risk scores for dyslipidemia and atherosclerotic cardiovascular disease: Progress toward clinical implementation\",\"authors\":\"Michael G. Levin MD , Daniel J. Rader MD\",\"doi\":\"10.1016/j.beem.2022.101702\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><span>Recent discoveries from the past 15 years of human genetic<span> association studies have provided new insights into the common genetic<span> basis of coronary artery disease and its risk factors including molecular traits like circulating lipid/lipoprotein levels. Polygenic risk scores, which aggregate findings from these large genetic studies, have been developed to predict clinical disease and stratify treatment response in </span></span></span>clinical trials<span>. In this review, we describe common methods for calculating polygenic risk scores, highlight examples related to coronary artery disease and lipid traits, and discuss opportunities and challenges for clinical implementation.</span></p></div>\",\"PeriodicalId\":8810,\"journal\":{\"name\":\"Best practice & research. Clinical endocrinology & metabolism\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":6.1000,\"publicationDate\":\"2023-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Best practice & research. Clinical endocrinology & metabolism\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1521690X22000896\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Best practice & research. Clinical endocrinology & metabolism","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1521690X22000896","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Polygenic risk scores for dyslipidemia and atherosclerotic cardiovascular disease: Progress toward clinical implementation
Recent discoveries from the past 15 years of human genetic association studies have provided new insights into the common genetic basis of coronary artery disease and its risk factors including molecular traits like circulating lipid/lipoprotein levels. Polygenic risk scores, which aggregate findings from these large genetic studies, have been developed to predict clinical disease and stratify treatment response in clinical trials. In this review, we describe common methods for calculating polygenic risk scores, highlight examples related to coronary artery disease and lipid traits, and discuss opportunities and challenges for clinical implementation.
期刊介绍:
Best Practice & Research Clinical Endocrinology & Metabolism is a serial publication that integrates the latest original research findings into evidence-based review articles. These articles aim to address key clinical issues related to diagnosis, treatment, and patient management.
Each issue adopts a problem-oriented approach, focusing on key questions and clearly outlining what is known while identifying areas for future research. Practical management strategies are described to facilitate application to individual patients. The series targets physicians in practice or training.