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Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
A combined genome-wide association and linkage study was used to identify loci causing variation in CF lung disease severity. A significant association (P=3. 34 × 10(-8)) near EHF and APIP (chr11p13) was identified in F508del homozygotes (n=1,978). The association replicated in F508del homozygotes (...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3296486/ https://www.ncbi.nlm.nih.gov/pubmed/21602797 http://dx.doi.org/10.1038/ng.838 |
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| author | Wright, Fred A. Strug, Lisa J. Doshi, Vishal K. Commander, Clayton W. Blackman, Scott M. Sun, Lei Berthiaume, Yves Cutler, David Cojocaru, Andreea Collaco, J. Michael Corey, Mary Dorfman, Ruslan Goddard, Katrina Green, Deanna Kent, Jack W. Lange, Ethan M. Lee, Seunggeun Li, Weili Luo, Jingchun Mayhew, Gregory M. Naughton, Kathleen M. Pace, Rhonda G. Paré, Peter Rommens, Johanna M. Sandford, Andrew Stonebraker, Jaclyn R. Sun, Wei Taylor, Chelsea Vanscoy, Lori L. Zou, Fei Blangero, John Zielenski, Julian O’Neal, Wanda K. Drumm, Mitchell L. Durie, Peter R. Knowles, Michael R. Cutting, Garry R. |
| author_facet | Wright, Fred A. Strug, Lisa J. Doshi, Vishal K. Commander, Clayton W. Blackman, Scott M. Sun, Lei Berthiaume, Yves Cutler, David Cojocaru, Andreea Collaco, J. Michael Corey, Mary Dorfman, Ruslan Goddard, Katrina Green, Deanna Kent, Jack W. Lange, Ethan M. Lee, Seunggeun Li, Weili Luo, Jingchun Mayhew, Gregory M. Naughton, Kathleen M. Pace, Rhonda G. Paré, Peter Rommens, Johanna M. Sandford, Andrew Stonebraker, Jaclyn R. Sun, Wei Taylor, Chelsea Vanscoy, Lori L. Zou, Fei Blangero, John Zielenski, Julian O’Neal, Wanda K. Drumm, Mitchell L. Durie, Peter R. Knowles, Michael R. Cutting, Garry R. |
| author_sort | Wright, Fred A. |
| collection | PubMed |
| description | A combined genome-wide association and linkage study was used to identify loci causing variation in CF lung disease severity. A significant association (P=3. 34 × 10(-8)) near EHF and APIP (chr11p13) was identified in F508del homozygotes (n=1,978). The association replicated in F508del 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 QTL on chromosome 20q13.2 (LOD=5.03). Our findings provide insight into the causes of variation in lung disease severity in CF and suggest new therapeutic targets for this life-limiting disorder. |
| format | Online Article Text |
| id | pubmed-3296486 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-32964862012-03-07 Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 Wright, Fred A. Strug, Lisa J. Doshi, Vishal K. Commander, Clayton W. Blackman, Scott M. Sun, Lei Berthiaume, Yves Cutler, David Cojocaru, Andreea Collaco, J. Michael Corey, Mary Dorfman, Ruslan Goddard, Katrina Green, Deanna Kent, Jack W. Lange, Ethan M. Lee, Seunggeun Li, Weili Luo, Jingchun Mayhew, Gregory M. Naughton, Kathleen M. Pace, Rhonda G. Paré, Peter Rommens, Johanna M. Sandford, Andrew Stonebraker, Jaclyn R. Sun, Wei Taylor, Chelsea Vanscoy, Lori L. Zou, Fei Blangero, John Zielenski, Julian O’Neal, Wanda K. Drumm, Mitchell L. Durie, Peter R. Knowles, Michael R. Cutting, Garry R. Nat Genet Article A combined genome-wide association and linkage study was used to identify loci causing variation in CF lung disease severity. A significant association (P=3. 34 × 10(-8)) near EHF and APIP (chr11p13) was identified in F508del homozygotes (n=1,978). The association replicated in F508del 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 QTL on chromosome 20q13.2 (LOD=5.03). Our findings provide insight into the causes of variation in lung disease severity in CF and suggest new therapeutic targets for this life-limiting disorder. 2011-05-22 2011-06 /pmc/articles/PMC3296486/ /pubmed/21602797 http://dx.doi.org/10.1038/ng.838 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Wright, Fred A. Strug, Lisa J. Doshi, Vishal K. Commander, Clayton W. Blackman, Scott M. Sun, Lei Berthiaume, Yves Cutler, David Cojocaru, Andreea Collaco, J. Michael Corey, Mary Dorfman, Ruslan Goddard, Katrina Green, Deanna Kent, Jack W. Lange, Ethan M. Lee, Seunggeun Li, Weili Luo, Jingchun Mayhew, Gregory M. Naughton, Kathleen M. Pace, Rhonda G. Paré, Peter Rommens, Johanna M. Sandford, Andrew Stonebraker, Jaclyn R. Sun, Wei Taylor, Chelsea Vanscoy, Lori L. Zou, Fei Blangero, John Zielenski, Julian O’Neal, Wanda K. Drumm, Mitchell L. Durie, Peter R. Knowles, Michael R. Cutting, Garry R. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 |
| title | Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 |
| title_full | Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 |
| title_fullStr | Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 |
| title_full_unstemmed | Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 |
| title_short | Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 |
| title_sort | genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3296486/ https://www.ncbi.nlm.nih.gov/pubmed/21602797 http://dx.doi.org/10.1038/ng.838 |
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