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Search: (WFRF:(Salomaa Veikko)) srt2:(2020-2024) > (2021) > Genetic analysis of...

  • Strausz, SatuUniversity of Helsinki (author)

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

  • Article/chapterEnglish2021

Publisher, publication year, extent ...

  • 2020-11-26
  • European Respiratory Society (ERS),2021

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:0628fcdf-d175-4fee-b124-9ff6399ebb20
  • https://lup.lub.lu.se/record/0628fcdf-d175-4fee-b124-9ff6399ebb20URI
  • https://doi.org/10.1183/13993003.03091-2020DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:146692446URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Ruotsalainen, SanniUniversity of Helsinki (author)
  • Ollila, Hanna M.University of Helsinki (author)
  • Karjalainen, JuhaUniversity of Helsinki (author)
  • Kiiskinen, TuomoUniversity of Helsinki (author)
  • Reeve, MaryUniversity of Helsinki (author)
  • Kurki, MitjaUniversity of Helsinki (author)
  • Mars, NinaUniversity of Helsinki (author)
  • Havulinna, Aki S.University of Helsinki (author)
  • Luonsi, ElinaUniversity of Helsinki (author)
  • Aly, Dina MansourLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)di3053ma (author)
  • Ahlqvist, EmmaLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)infl-eah (author)
  • Teder-Laving, MarisUniversity of Tartu (author)
  • Palta, PriitUniversity of Tartu,University of Helsinki (author)
  • Groop, LeifLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,University of Helsinki,Skåne University Hospital(Swepub:lu)endo-lgr (author)
  • Reedik Mägi, MägiUniversity of Tartu (author)
  • Antti Mäkitie, MäkitieKarolinska Institutet (author)
  • Salomaa, VeikkoFinnish National Institute for Health and Welfare (author)
  • Bachour, AdelHelsinki University Central Hospital (author)
  • Tuomi, TiinamaijaLund 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(Swepub:lu)ti8736tu (author)
  • Palotie, AarnoBroad Institute,Massachusetts General Hospital,University of Helsinki(Swepub:lu)med-aop (author)
  • Palotie, TuulaUniversity of Helsinki (author)
  • Ripatti, SamuliUniversity of Helsinki(Swepub:lu)med-sur (author)
  • University of HelsinkiTranslationell muskelforskning (creator_code:org_t)
  • FinnGen

Related titles

  • In:European Respiratory Journal: European Respiratory Society (ERS)57:5, s. 1-170903-19361399-3003

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