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• W2262187954 abstract "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." @default.
• W2262187954 created "2016-06-24" @default.
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• W2262187954 date "2015-09-29" @default.
• W2262187954 modified "2023-10-17" @default.
• W2262187954 title "Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis" @default.
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• W2262187954 doi "https://doi.org/10.1038/ncomms9382" @default.
• W2262187954 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4589222" @default.
• W2262187954 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26417704" @default.
• W2262187954 hasPublicationYear "2015" @default.
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