Article
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.
Nature genetics - 1 May 2012
Sun Lei, Rommens Johanna M, Corvol Harriet, Li Weili, Li Xin, Chiang Theodore A, Lin Fan, Dorfman Ruslan, Busson Pierre-François, Parekh Rashmi V, Zelenika Diana, Blackman Scott M, Corey Mary, Doshi Vishal K, Henderson Lindsay, Naughton Kathleen M, O'Neal Wanda K, Pace Rhonda G, Stonebraker Jaclyn R, Wood Sally D, Wright Fred A, Zielenski Julian, Clement Annick, Drumm Mitchell L, Boëlle Pierre-Yves, Cutting Garry R, Knowles Michael R, Durie Peter R, Strug Lisa J
Abstract excerpt
Variants 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 =...
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