Ontology type: schema:ScholarlyArticle Open Access: True
2012-05
AUTHORSLei Sun, Johanna M Rommens, Harriet Corvol, Weili Li, Xin Li, Theodore A Chiang, Fan Lin, Ruslan Dorfman, Pierre-François Busson, Rashmi V Parekh, Diana Zelenika, Scott M Blackman, Mary Corey, Vishal K Doshi, Lindsay Henderson, Kathleen M Naughton, Wanda K O'Neal, Rhonda G Pace, Jaclyn R Stonebraker, Sally D Wood, Fred A Wright, Julian Zielenski, Annick Clement, Mitchell L Drumm, Pierre-Yves Boëlle, Garry R Cutting, Michael R Knowles, Peter R Durie, Lisa J Strug
ABSTRACTVariants associated with meconium ileus in cystic fibrosis were identified in 3,763 affected individuals by genome-wide association study (GWAS). Five SNPs at two loci near SLC6A14 at Xq23-24 (minimum P = 1.28 × 10(-12) at rs3788766) and SLC26A9 at 1q32.1 (minimum P = 9.88 × 10(-9) at rs4077468) accounted for ~5% of phenotypic variability and were replicated in an independent sample of affected individuals (n = 2,372; P = 0.001 and 0.0001, respectively). By incorporating the knowledge that disease-causing mutations in CFTR alter electrolyte and fluid flux across surface epithelium into a hypothesis-driven GWAS (GWAS-HD), we identified associations with the same SNPs in SLC6A14 and SLC26A9 and established evidence for the involvement of SNPs in a third solute carrier gene, SLC9A3. In addition, GWAS-HD provided evidence of association between meconium ileus and multiple genes encoding constituents of the apical plasma membrane where CFTR resides (P = 0.0002; testing of 155 apical membrane genes jointly and in replication, P = 0.022). These findings suggest that modulating activities of apical membrane constituents could complement current therapeutic paradigms for cystic fibrosis. More... »
PAGES562
http://scigraph.springernature.com/pub.10.1038/ng.2221
DOIhttp://dx.doi.org/10.1038/ng.2221
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/22466613
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