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Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

ABSTRACT: 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.

SUBMITTER: Wright FA 

PROVIDER: S-EPMC3296486 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

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Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

Wright Fred A FA   Strug Lisa J LJ   Doshi Vishal K VK   Commander Clayton W CW   Blackman Scott M SM   Sun Lei L   Berthiaume Yves Y   Cutler David D   Cojocaru Andreea A   Collaco J Michael JM   Corey Mary M   Dorfman Ruslan R   Goddard Katrina K   Green Deanna D   Kent Jack W JW   Lange Ethan M EM   Lee Seunggeun S   Li Weili W   Luo Jingchun J   Mayhew Gregory M GM   Naughton Kathleen M KM   Pace Rhonda G RG   Paré Peter P   Rommens Johanna M JM   Sandford Andrew A   Stonebraker Jaclyn R JR   Sun Wei W   Taylor Chelsea C   Vanscoy Lori L LL   Zou Fei F   Blangero John J   Zielenski Julian J   O'Neal Wanda K WK   Drumm Mitchell L ML   Durie Peter R PR   Knowles Michael R MR   Cutting Garry R GR  

Nature genetics 20110522 6

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 ba  ...[more]

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