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Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
Univ Cambridge, Dept Publ Hlth & Primary Care, MRC BHF Cardiovasc Epidemiol Unit, Cambridge, England..
Univ Bristol, Sch Social & Community Med, Med Res Council Integrat Epidemiol Unit, Oakfield House, Bristol, Avon, England.;UCL, Inst Cardiovasc Sci, Ctr Cardiovasc Genet, London, England..
Univ Cambridge, Dept Publ Hlth & Primary Care, MRC BHF Cardiovasc Epidemiol Unit, Cambridge, England..
Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol, London, England.;Queen Mary Univ London, Natl Inst Hlth Res, Barts Cardiovasc Biomed Res Unit, London, England..
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2016 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 48, no 10, 1151-1161 p.Article in journal (Refereed) Published
Abstract [en]

High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low frequency and common genetic variants in up to 192,763 individuals and used similar to 155,063 samples for independent replication. We identified 30 new blood pressure- or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5 mm Hg/allele) than common variants. Multiple rare nonsense and missense variant associations were found in A2ML1, and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention.

Place, publisher, year, edition, pages
2016. Vol. 48, no 10, 1151-1161 p.
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Medical Genetics
URN: urn:nbn:se:uu:diva-306251DOI: 10.1038/ng.3654ISI: 000384391600010PubMedID: 27618447OAI: oai:DiVA.org:uu-306251DiVA: diva2:1040294
Available from: 2016-10-27 Created: 2016-10-26 Last updated: 2016-10-27Bibliographically approved

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Lannfelt, LarsIngelsson, ErikLind, Lars
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