{"title":"阻塞性睡眠呼吸暂停的基因基础更新——炒作还是希望?","authors":"Renata L Riha","doi":"10.1097/MCP.0000000000001011","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>The obstructive sleep apnoea syndrome (OSAS) is a chronic, common condition in western societies which can lead to adverse cardiometabolic effects if left untreated and is one of the commonest causes of excessive daytime somnolence.</p><p><strong>Recent findings: </strong>The presentation of OSAS is diverse and is thought to comprise of different intermediate phenotypes and endotypes in varying proportions in each individual. Unfortunately, due to its heterogeneity and the changing definitions of the disorder by workers in the field, attempts at revealing the genetic basis of OSAS has been fraught with difficulty.</p><p><strong>Summary: </strong>This brief review presents a short update on the achievements of the past three decades in this understudied and underfunded area of endeavour in respiratory sleep medicine. The genetic underpinnings of OSAS remain elusive.</p>","PeriodicalId":11090,"journal":{"name":"Current Opinion in Pulmonary Medicine","volume":"29 6","pages":"533-538"},"PeriodicalIF":2.8000,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Update on the genetic basis of obstructive sleep apnoea - hype or hope?\",\"authors\":\"Renata L Riha\",\"doi\":\"10.1097/MCP.0000000000001011\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose of review: </strong>The obstructive sleep apnoea syndrome (OSAS) is a chronic, common condition in western societies which can lead to adverse cardiometabolic effects if left untreated and is one of the commonest causes of excessive daytime somnolence.</p><p><strong>Recent findings: </strong>The presentation of OSAS is diverse and is thought to comprise of different intermediate phenotypes and endotypes in varying proportions in each individual. Unfortunately, due to its heterogeneity and the changing definitions of the disorder by workers in the field, attempts at revealing the genetic basis of OSAS has been fraught with difficulty.</p><p><strong>Summary: </strong>This brief review presents a short update on the achievements of the past three decades in this understudied and underfunded area of endeavour in respiratory sleep medicine. The genetic underpinnings of OSAS remain elusive.</p>\",\"PeriodicalId\":11090,\"journal\":{\"name\":\"Current Opinion in Pulmonary Medicine\",\"volume\":\"29 6\",\"pages\":\"533-538\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2023-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Opinion in Pulmonary Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/MCP.0000000000001011\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/9/1 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"RESPIRATORY SYSTEM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Opinion in Pulmonary Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MCP.0000000000001011","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/9/1 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
Update on the genetic basis of obstructive sleep apnoea - hype or hope?
Purpose of review: The obstructive sleep apnoea syndrome (OSAS) is a chronic, common condition in western societies which can lead to adverse cardiometabolic effects if left untreated and is one of the commonest causes of excessive daytime somnolence.
Recent findings: The presentation of OSAS is diverse and is thought to comprise of different intermediate phenotypes and endotypes in varying proportions in each individual. Unfortunately, due to its heterogeneity and the changing definitions of the disorder by workers in the field, attempts at revealing the genetic basis of OSAS has been fraught with difficulty.
Summary: This brief review presents a short update on the achievements of the past three decades in this understudied and underfunded area of endeavour in respiratory sleep medicine. The genetic underpinnings of OSAS remain elusive.
期刊介绍:
Current Opinion in Pulmonary Medicine is a highly regarded journal offering insightful editorials and on-the-mark invited reviews, covering key subjects such as asthma; cystic fibrosis; infectious diseases; diseases of the pleura; and sleep and respiratory neurobiology. Published bimonthly, each issue of Current Opinion in Pulmonary Medicine introduces world renowned guest editors and internationally recognized academics within the pulmonary field, delivering a widespread selection of expert assessments on the latest developments from the most recent literature.