| Autor: |
Garry R. Cutting, Mitchell L. Drumm, David J. Cutler, Yves Berthiaume, Deanna M. Green, Johanna M. Rommens, Ruslan Dorfman, Jaclyn R. Stonebraker, Rhonda G. Pace, Ethan M. Lange, Lisa J. Strug, Michael R. Knowles, Seunggeun Lee, Clayton W. Commander, Gregory Mayhew, Kathleen M. Naughton, Katrina A.B. Goddard, Wei Sun, Chelsea Taylor, J. Michael Collaco, Andreea L. Cojocaru, Fei Zou, Vishal K. Doshi, Jack W. Kent, John Blangero, Wanda K. O'Neal, Scott M. Blackman, Peter D. Paré, Jingchun Luo, Lori L. Vanscoy, Peter R. Durie, Fred A. Wright, Mary Corey, Julian Zielenski, Lei Sun, Weili Li, Andrew J. Sandford |
| Rok vydání: |
2011 |
| Předmět: |
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| Zdroj: |
Nature genetics |
| ISSN: |
1546-1718
1061-4036 |
| DOI: |
10.1038/ng.838 |
| Popis: |
A 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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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