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 Lung disease severity in cystic fibrosis. The EFO term Cystic fibrosis, lung disease severity measurement 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, lung disease severity measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

H Corvol, SM Blackman, PY Boëlle, PJ Gallins, RG Pace, JR Stonebraker, FJ Accurso, A Clement, JM Collaco, H Dang, AT Dang, A Franca, J Gong, L Guillot, K Keenan, W Li, F Lin, MV Patrone, KS Raraigh, L Sun, YH Zhou, WK O'Neal, MK Sontag, H Levy, PR Durie, JM Rommens, ML Drumm, FA Wright, LJ Strug, GR Cutting, MR Knowles

TITLE:

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.

JOURNAL:

Nature communications Sep 2015, Vol 6, pp. 8382

ABSTRACT:

The identification of small molecules that target specific CFTR variants has ushered in a new era of treatment for cystic fibrosis (CF), yet optimal, individualized treatment of CF will require identification and targeting of disease modifiers. Here we use genome-wide association analysis to identify genetic modifiers of CF lung disease, the primary cause of mortality. Meta-analysis of 6,365 CF patients identifies five loci that display significant association with variation in lung disease. Regions on chr3q29 (MUC4/MUC20; P=3.3 × 10(-11)), chr5p15.3 (SLC9A3; P=6.8 × 10(-12)), chr6p21.3 (HLA Class II; P=1.2 × 10(-8)) and chrXq22-q23 (AGTR2/SLC6A14; P=1.8 × 10(-9)) contain genes of high biological relevance to CF pathophysiology. The fifth locus, on chr11p12-p13 (EHF/APIP; P=1.9 × 10(-10)), was previously shown to be associated with lung disease. These results provide new insights into potential targets for modulating lung disease severity in CF. PUBMED: 26417704
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