Obstructive Sleep Apnea Endophenotypes

Obstructive sleep apnea (OSA) is a common disorder with major neurocognitive and cardiometabolic consequences. It is now recognized as a heterogeneous disease with multiple different underlying mechanisms (endotypes) as well as variable clinical expression of disease (phenotypes). The importance of...

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Main Authors: Janna Rae Raphelson, Ana Lucia Fuentes, Breanna Holloway, Atul Malhotra
Format: Article
Language:English
Published: Thieme Revinter Publicações Ltda. 2025-03-01
Series:Sleep Science
Subjects:
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1788287
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author Janna Rae Raphelson
Ana Lucia Fuentes
Breanna Holloway
Atul Malhotra
author_facet Janna Rae Raphelson
Ana Lucia Fuentes
Breanna Holloway
Atul Malhotra
author_sort Janna Rae Raphelson
collection DOAJ
description Obstructive sleep apnea (OSA) is a common disorder with major neurocognitive and cardiometabolic consequences. It is now recognized as a heterogeneous disease with multiple different underlying mechanisms (endotypes) as well as variable clinical expression of disease (phenotypes). The importance of this variability is emphasized since one variable in isolation typically explains only a fraction of the variance in OSA occurrence. This review provides an update of what is known regarding OSA heterogeneity. The importance of OSA endotypes is discussed in the context of how mechanism might affect disease management and/or design of subsequent randomized trials. Further research is recommended to provide further validation of OSA endophenotypes and how this information may influence clinical management in the future.
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issn 1984-0659
1984-0063
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publishDate 2025-03-01
publisher Thieme Revinter Publicações Ltda.
record_format Article
series Sleep Science
spelling doaj-art-bd2e47ca82fc4a4c98a3b1eaef76cfc62025-08-20T03:06:43ZengThieme Revinter Publicações Ltda.Sleep Science1984-06591984-00632025-03-011801e109e11310.1055/s-0044-1788287Obstructive Sleep Apnea EndophenotypesJanna Rae Raphelson0Ana Lucia Fuentes1Breanna Holloway2Atul Malhotra3https://orcid.org/0000-0002-9509-1827School of Medicine, University of California San Diego, La Jolla, CA, United StatesSchool of Medicine, University of California San Diego, La Jolla, CA, United StatesSchool of Medicine, University of California San Diego, La Jolla, CA, United StatesSchool of Medicine, University of California San Diego, La Jolla, CA, United StatesObstructive sleep apnea (OSA) is a common disorder with major neurocognitive and cardiometabolic consequences. It is now recognized as a heterogeneous disease with multiple different underlying mechanisms (endotypes) as well as variable clinical expression of disease (phenotypes). The importance of this variability is emphasized since one variable in isolation typically explains only a fraction of the variance in OSA occurrence. This review provides an update of what is known regarding OSA heterogeneity. The importance of OSA endotypes is discussed in the context of how mechanism might affect disease management and/or design of subsequent randomized trials. Further research is recommended to provide further validation of OSA endophenotypes and how this information may influence clinical management in the future.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1788287sleeplunghypoxemiaarousal
spellingShingle Janna Rae Raphelson
Ana Lucia Fuentes
Breanna Holloway
Atul Malhotra
Obstructive Sleep Apnea Endophenotypes
Sleep Science
sleep
lung
hypoxemia
arousal
title Obstructive Sleep Apnea Endophenotypes
title_full Obstructive Sleep Apnea Endophenotypes
title_fullStr Obstructive Sleep Apnea Endophenotypes
title_full_unstemmed Obstructive Sleep Apnea Endophenotypes
title_short Obstructive Sleep Apnea Endophenotypes
title_sort obstructive sleep apnea endophenotypes
topic sleep
lung
hypoxemia
arousal
url http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1788287
work_keys_str_mv AT jannaraeraphelson obstructivesleepapneaendophenotypes
AT analuciafuentes obstructivesleepapneaendophenotypes
AT breannaholloway obstructivesleepapneaendophenotypes
AT atulmalhotra obstructivesleepapneaendophenotypes