Journal
NATURE COMMUNICATIONS
Volume 6, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms9382
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Funding
- National Heart, Lung and Blood Institute [1DP2OD007031, R01HL068890, R01HL095396, R01HL68927]
- National Institute of Diabetes and Digestive and Kidney Diseases [1R01DK61886-01, K23DK083551, P30DK079637]
- National Human Genome Research Institute [R21HG007840]
- Cystic Fibrosis Foundation [SONTAG07A0, KNOW-LE00A0, DRUMM0A00, CUTT00AO, CUTT06PO, COLLAC13IO]
- PES Clinical Scholars Award, Schwachman [COLLACO09A0]
- Canadian Institutes of Health Research [MOP 258916]
- Cystic Fibrosis Canada (CFC) [2626]
- Genome Canada through the Ontario Genomics Institute [2004-OGI-3-05]
- Institut National de la Sante et de la Recherche Medicale
- Assistance Publique-Hopitaux de Paris
- Agence Nationale de la Recherche [R09186DS]
- Universite Pierre et Marie Curie Paris
- DGS
- Association Vaincre La Mucoviscidose, Chancellerie des Universites (Legs Poix)
- Association Agir Informer Contre la Mucoviscidose, GIS-Institut des Maladies Rares
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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 x 10(-11)), chr5p15.3 (SLC9A3; P = 6.8 x 10(-12)), chr6p21.3 (HLA Class II; P = 1.2 x 10(-8)) and chrXq22-q23 (AGTR2/SLC6A14; P = 1.8 x 10(-9)) contain genes of high biological relevance to CF pathophysiology. The fifth locus, on chr11p12-p13 (EHF/APIP; P = 1.9 x 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.
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