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| PMID |
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| TITLE |
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| Genome-wide analysis in over 1.6 million participants uncovers 147 loci associated with obstructive sleep apnoea. |
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| ABSTRACT |
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| We conducted the largest GWAS meta-analysis for obstructive sleep apnoea (OSA; N = 230,657; N = 1,377,442) using European ancestry genetic data from five countries. We identified 147 independent loci associated with OSA, and estimated SNP-based heritability at 16%. We report six independent loci in a separate African population meta-analysis (N = 46,834; N = 149,192). We observed spatially resolved gene enrichment involving GABAergic and glutamate pathways, synaptic transmission, and cytoskeletal remodelling. OSA-derived polygenic risk scores showed predictive ability for clinician ascertained OSA status, Fitbit-derived sleep features, and self-reported sleep traits in participants of diverse ancestral backgrounds. We identified putative causal relationships with ADHD, depression, multisite chronic pain, body mass index, and schizophrenia, among others. Our findings demonstrate a robust genetic component underlying OSA risk, independent of body mass index, implicating distinct neurobiological pathways related to synaptic function and corticothalamic feedback loops. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| medline |
2025/11/26 06:30 |
| pubmed |
2025/11/26 06:29 |
| entrez |
2025/11/26 04:35 |
| pmc-release |
2025/11/24 |
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| AUTHORS |
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| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| García-Marín LM |
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García-Marín |
Luis M |
LM |
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| Ceja Z |
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Ceja |
Zuriel |
Z |
|
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| Parasuraman A |
|
Parasuraman |
Abishna |
A |
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| Xu JW |
|
Xu |
Jia Wen |
JW |
|
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| Díaz-Torres S |
|
Díaz-Torres |
Santiago |
S |
|
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| Flores-Ocampo V |
|
Flores-Ocampo |
Victor |
V |
|
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| Aman AM |
|
Aman |
Asma M |
AM |
|
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| Maya-Martínez M |
|
Maya-Martínez |
Mateo |
M |
|
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| Huang X |
|
Huang |
Xueyan |
X |
|
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| Pasquali C |
|
Pasquali |
Camilla |
C |
|
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| Aguilar-Roldán A |
|
Aguilar-Roldán |
Aura |
A |
|
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| Uckac B |
|
Uckac |
Bade |
B |
|
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| Cao F |
|
Cao |
Fangyuan |
F |
|
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| Ogonowski NS |
|
Ogonowski |
Natalia S |
NS |
|
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| Martin NG |
|
Martin |
Nicholas G |
NG |
|
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| MacGregor S |
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MacGregor |
Stuart |
S |
|
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| Dong X |
|
Dong |
Xianjun |
X |
|
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| Lewis SJ |
|
Lewis |
Sarah J |
SJ |
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| Seviiri M |
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Seviiri |
Mathias |
M |
|
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| Wang J |
|
Wang |
Jiao |
J |
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| Rentería ME |
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Rentería |
Miguel E |
ME |
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| INVESTIGATORS |
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| JOURNAL |
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| VOLUME: |
| ISSUE: |
| TITLE: medRxiv : the preprint server for health sciences |
| ISOABBREVIATION: medRxiv |
| YEAR: 2025 |
| MONTH: Nov |
| DAY: 12 |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: |
| ISSNTYPE: |
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| MEDLINE JOURNAL |
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| MEDLINETA: medRxiv |
| COUNTRY: United States |
| ISSNLINKING: |
| NLMUNIQUEID: 101767986 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| Journal Article |
| Preprint |
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| CHEMICALS |
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