Article
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
Nature genetics - 1 Jun 2011
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
Abstract excerpt
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...
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