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Genome-wide association analysis identifies six new loci associated with forced vital capacity
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2014 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 46, 669-677 p.Article in journal (Refereed) Published
Abstract [en]

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.

Place, publisher, year, edition, pages
2014. Vol. 46, 669-677 p.
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Medical Genetics
URN: urn:nbn:se:uu:diva-227441DOI: 10.1038/ng.3011PubMedID: 24929828OAI: oai:DiVA.org:uu-227441DiVA: diva2:729526
Swedish National Infrastructure for Computing (SNIC), b2011203
Available from: 2014-06-26 Created: 2014-06-26 Last updated: 2016-05-09Bibliographically approved

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Enroth, StefanFall, ToveJohansson, ÅsaIngelsson, ErikGyllensten, UlfLind, Lars
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Department of Immunology, Genetics and PathologyScience for Life Laboratory, SciLifeLabMolecular epidemiologyUCR-Uppsala Clinical Research CenterCardiovascular epidemiology
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