DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Cystic fibrosis severity. The EFO term Cystic fibrosis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: Cystic fibrosis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

FA Wright, LJ Strug, VK Doshi, CW Commander, SM Blackman, L Sun, Y Berthiaume, D Cutler, A Cojocaru, JM Collaco, M Corey, R Dorfman, K Goddard, D Green, JW Kent, EM Lange, S Lee, W Li, J Luo, GM Mayhew, KM Naughton, RG Pace, P Paré, JM Rommens, A Sandford, JR Stonebraker, W Sun, C Taylor, LL Vanscoy, F Zou, J Blangero, J Zielenski, WK O'Neal, ML Drumm, PR Durie, MR Knowles, GR Cutting

TITLE:

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

JOURNAL:

Nature genetics Jun 2011, Vol 43, pp. 539-46

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. PUBMED: 21602797
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