Ontology type: schema:ScholarlyArticle Open Access: True
2011-06
AUTHORSFred A Wright, Lisa J Strug, Vishal K Doshi, Clayton W Commander, Scott M Blackman, Lei Sun, Yves Berthiaume, David Cutler, Andreea Cojocaru, J Michael Collaco, Mary Corey, Ruslan Dorfman, Katrina Goddard, Deanna Green, Jack W Kent, Ethan M Lange, Seunggeun Lee, Weili Li, Jingchun Luo, Gregory M Mayhew, Kathleen M Naughton, Rhonda G Pace, Peter Paré, Johanna M Rommens, Andrew Sandford, Jaclyn R Stonebraker, Wei Sun, Chelsea Taylor, Lori L Vanscoy, Fei Zou, John Blangero, Julian Zielenski, Wanda K O'Neal, Mitchell L Drumm, Peter R Durie, Michael R Knowles, Garry R Cutting
ABSTRACTA combined genome-wide association and linkage study was used to identify loci causing variation in cystic fibrosis lung disease severity. We identified a significant association (P = 3.34 × 10(-8)) near EHF and APIP (chr11p13) in p.Phe508del homozygotes (n = 1,978). The association replicated in p.Phe508del homozygotes (P = 0.006) from a separate family based study (n = 557), with P = 1.49 × 10(-9) for the three-study joint meta-analysis. Linkage analysis of 486 sibling pairs from the family based study identified a significant quantitative trait locus on chromosome 20q13.2 (log(10) odds = 5.03). Our findings provide insight into the causes of variation in lung disease severity in cystic fibrosis and suggest new therapeutic targets for this life-limiting disorder. More... »
PAGES539
http://scigraph.springernature.com/pub.10.1038/ng.838
DOIhttp://dx.doi.org/10.1038/ng.838
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/21602797
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