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Nat Genet. 2011 Jun;43(6):539-46. doi: 10.1038/ng.838. Epub 2011 May 22.

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

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  • 1Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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.

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PMID:
21602797
[PubMed - indexed for MEDLINE]
PMCID:
PMC3296486
Free PMC Article

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