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Genetic analysis of...
Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health
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- Strausz, Satu (author)
- University of Helsinki
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- Ruotsalainen, Sanni (author)
- University of Helsinki
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- Ollila, Hanna M. (author)
- University of Helsinki
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- Karjalainen, Juha (author)
- University of Helsinki
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- Kiiskinen, Tuomo (author)
- University of Helsinki
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- Reeve, Mary (author)
- University of Helsinki
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- Kurki, Mitja (author)
- University of Helsinki
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- Mars, Nina (author)
- University of Helsinki
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- Havulinna, Aki S. (author)
- University of Helsinki
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- Luonsi, Elina (author)
- University of Helsinki
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- Aly, Dina Mansour (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- Ahlqvist, Emma (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- Teder-Laving, Maris (author)
- University of Tartu
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- Palta, Priit (author)
- University of Tartu,University of Helsinki
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- Groop, Leif (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,University of Helsinki,Skåne University Hospital
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- Reedik Mägi, Mägi (author)
- University of Tartu
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- Antti Mäkitie, Mäkitie (author)
- Karolinska Institutet
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- Salomaa, Veikko (author)
- Finnish National Institute for Health and Welfare
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- Bachour, Adel (author)
- Helsinki University Central Hospital
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- Tuomi, Tiinamaija (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital,University of Helsinki,Helsinki University Central Hospital
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- Palotie, Aarno (author)
- Broad Institute,Massachusetts General Hospital,University of Helsinki
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- Palotie, Tuula (author)
- University of Helsinki
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- Ripatti, Samuli (author)
- University of Helsinki
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(creator_code:org_t)
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- 2020-11-26
- 2021
- English.
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In: European Respiratory Journal. - : European Respiratory Society (ERS). - 0903-1936 .- 1399-3003. ; 57:5, s. 1-17
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Abstract
Subject headings
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- There is currently limited understanding of the genetic aetiology of obstructive sleep apnoea (OSA). We aimed to identify genetic loci associated with OSA risk, and to test if OSA and its comorbidities share a common genetic background. We conducted the first large-scale genome-wide association study of OSA using the FinnGen study (217 955 individuals) with 16 761 OSA patients identified using nationwide health registries. We estimated 0.08 (95% CI 0.06.0.11) heritability and identified five loci associated with OSA (p<5.0×10-8): rs4837016 near GAPVD1 (GTPase activating protein and VPS9 domains 1), rs10928560 near CXCR4 (C-X-C motif chemokine receptor type 4), rs185932673 near CAMK1D (calcium/calmodulindependent protein kinase ID) and rs9937053 near FTO (fat mass and obesity-associated protein; a variant previously associated with body mass index (BMI)). In a BMI-adjusted analysis, an association was observed for rs10507084 near RMST/NEDD1 (rhabdomyosarcoma 2 associated transcript/NEDD1 γ-tubulin ring complex targeting factor). We found high genetic correlations between OSA and BMI (rg=0.72 (95% CI 0.62-0.83)), and with comorbidities including hypertension, type 2 diabetes, coronary heart disease, stroke, depression, hypothyroidism, asthma and inflammatory rheumatic disease (rg>0.30). The polygenic risk score for BMI showed 1.98-fold increased OSA risk between the highest and the lowest quintile, and Mendelian randomisation supported a causal relationship between BMI and OSA. Our findings support the causal link between obesity and OSA, and the joint genetic basis between OSA and comorbidities.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Näringslära (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Nutrition and Dietetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
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- art (subject category)
- ref (subject category)
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- By the author/editor
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Strausz, Satu
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Ruotsalainen, Sa ...
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Ollila, Hanna M.
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Karjalainen, Juh ...
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Kiiskinen, Tuomo
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Reeve, Mary
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show more...
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Kurki, Mitja
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Mars, Nina
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Havulinna, Aki S ...
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Luonsi, Elina
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Aly, Dina Mansou ...
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Ahlqvist, Emma
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Teder-Laving, Ma ...
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Palta, Priit
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Groop, Leif
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Reedik Mägi, Mäg ...
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Antti Mäkitie, M ...
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Salomaa, Veikko
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Bachour, Adel
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Tuomi, Tiinamaij ...
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Palotie, Aarno
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Palotie, Tuula
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Ripatti, Samuli
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Health Sciences
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and Nutrition and Di ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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European Respira ...
- By the university
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Lund University
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Karolinska Institutet