{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T00:56:04Z","timestamp":1774054564828,"version":"3.50.1"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R01HG011052"],"award-info":[{"award-number":["R01HG011052"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R35135818"],"award-info":[{"award-number":["R35135818"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01HL153814"],"award-info":[{"award-number":["R01HL153814"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R01HG011052"],"award-info":[{"award-number":["R01HG011052"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R35135818"],"award-info":[{"award-number":["R35135818"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01HL153814"],"award-info":[{"award-number":["R01HL153814"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.atsjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Rationale<\/jats:title>\n                    <jats:p>Obstructive sleep apnea (OSA) is a common disorder associated with increased risk for cardiovascular disease, diabetes, and premature mortality. There is strong clinical and epidemiologic evidence supporting the importance of genetic factors influencing OSA but limited data implicating specific genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To search for rare variants contributing to OSA severity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Leveraging high-depth genomic sequencing data from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and imputed genotype data from multiple population-based studies, we performed linkage analysis in the CFS (Cleveland Family Study), followed by multistage gene-based association analyses in independent cohorts for apnea\u2013hypopnea index (AHI) in a total of 7,708 individuals of European ancestry.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Measurements and Main Results<\/jats:title>\n                    <jats:p>Linkage analysis in the CFS identified a suggestive linkage peak on chromosome 7q31 (LOD\u2009=\u20092.31). Gene-based analysis identified 21 noncoding rare variants in CAV1 (Caveolin-1) associated with lower AHI after accounting for multiple comparisons (P\u2009=\u20097.4\u2009\u00d7\u200910\u22128). These noncoding variants together significantly contributed to the linkage evidence (P\u2009&amp;lt;\u200910\u22123). Follow-up analysis revealed significant associations between these variants and increased CAV1 expression, and increased CAV1 expression in peripheral monocytes was associated with lower AHI (P\u2009=\u20090.024) and higher minimum overnight oxygen saturation (P\u2009=\u20090.007).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Rare variants in CAV1, a membrane-scaffolding protein essential in multiple cellular and metabolic functions, are associated with higher CAV1 gene expression and lower OSA severity, suggesting a novel target for modulating OSA severity.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1164\/rccm.202203-0618oc","type":"journal-article","created":{"date-parts":[[2022,7,13]],"date-time":"2022-07-13T09:27:15Z","timestamp":1657704435000},"page":"1271-1280","update-policy":"https:\/\/doi.org\/10.1164\/crossmarkpolicies","source":"Crossref","is-referenced-by-count":8,"title":["Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea"],"prefix":"10.1093","volume":"206","author":[{"given":"Jingjing","family":"Liang","sequence":"first","affiliation":[{"name":"Department of Population and Quantitative Health Sciences, School of Medicine, Case Western Reserve University, Cleveland, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1486-7495","authenticated-orcid":false,"given":"Heming","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Sleep and Circadian Disorders, Brigham and Women\u2019s Hospital, Boston, Massachusetts"},{"name":"Division of Sleep Medicine, Harvard Medical School, and"},{"name":"Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian E.","family":"Cade","sequence":"additional","affiliation":[{"name":"Division of Sleep and Circadian Disorders, Brigham and Women\u2019s Hospital, Boston, Massachusetts"},{"name":"Division of Sleep Medicine, Harvard Medical School, and"},{"name":"Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuzulul","family":"Kurniansyah","sequence":"additional","affiliation":[{"name":"Division of Sleep and Circadian Disorders, Brigham and Women\u2019s Hospital, Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8686-7697","authenticated-orcid":false,"given":"Karen Y.","family":"He","sequence":"additional","affiliation":[{"name":"Department of Population and Quantitative Health Sciences, School of Medicine, Case Western Reserve University, Cleveland, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4079-7494","authenticated-orcid":false,"given":"Jiwon","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Sleep and Circadian Disorders, Brigham and Women\u2019s Hospital, Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3752-0328","authenticated-orcid":false,"given":"Scott A.","family":"Sands","sequence":"additional","affiliation":[{"name":"Division of Sleep and Circadian Disorders, Brigham and Women\u2019s Hospital, Boston, Massachusetts"},{"name":"Division of Sleep Medicine, Harvard Medical School, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8509-148X","authenticated-orcid":false,"given":"Jennifer","family":"A. 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