Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci

• Published in: PLoS genetics Vol. 15; no. 2; p. e1008007
• Main Authors: Gong, Jiafen, Wang, Fan, Xiao, Bowei, Panjwani, Naim, Lin, Fan, Keenan, Katherine, Avolio, Julie, Esmaeili, Mohsen, Zhang, Lin, He, Gengming, Soave, David, Mastromatteo, Scott, Baskurt, Zeynep, Kim, Sangook, O'Neal, Wanda K, Polineni, Deepika, Blackman, Scott M, Corvol, Harriet, Cutting, Garry R, Drumm, Mitchell, Knowles, Michael R, Rommens, Johanna M, Sun, Lei, Strug, Lisa J
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 26.02.2019; Public Library of Science (PLoS)
• Subjects: Amino Acid Transport Systems, Neutral - genetics; Amino Acid Transport Systems, Neutral - metabolism; Antiporters - genetics; Antiporters - metabolism; Biochemistry, Molecular Biology; Bioinformatics; Biology; Biology and Life Sciences; CF gene; Chromosome 1; Chromosome 13; Chromosome 7; Cystic fibrosis; Cystic Fibrosis - genetics; Cystic Fibrosis - metabolism; Disease susceptibility; Female; Fibrosis; Funding; Gastrointestinal diseases; Gene expression; Gene Expression Profiling - methods; Gene Expression Regulation; Genes; Genetic aspects; Genetics; Genome-Wide Association Study - methods; Genomes; Genomics; Genotype & phenotype; H(+)-K(+)-Exchanging ATPase - genetics; H(+)-K(+)-Exchanging ATPase - metabolism; Haplotypes; Health aspects; Hospitals; Human genetics; Humans; Intestinal obstruction; Intestine; Life Sciences; Lung - metabolism; Lung diseases; Male; Meconium; Medical research; Medicine; Medicine and Health Sciences; Morbidity; Organ Specificity; Pancreas; Pancreas, Exocrine - metabolism; Pancreatitis; Pediatrics; Precision medicine; Public health; Quantitative genetics; Quantitative trait loci; Research and Analysis Methods; Respiratory tract; Respiratory tract diseases; Social Sciences; Sulfate Transporters - genetics; Sulfate Transporters - metabolism; Susceptibility; Trypsin - genetics; Trypsin - metabolism; North Carolina; Canada; United States > US; Ohio; France; Maryland; Baltimore Maryland

Cystic Fibrosis (CF) exhibits morbidity in several organs, including progressive lung disease in all patients and intestinal obstruction at birth (meconium ileus) in ~15%. Individuals with the same causal CFTR mutations show variable disease presentation which is partly attributed to modifier genes....