Article
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Hepatology (Baltimore, Md.) - 1 Nov 2024
Stonebraker Jaclyn R, Pace Rhonda G, Gallins Paul J, Dang Hong, Aksit Melis A, Faino Anna V, Gordon William W, MacParland Sonya, Bamshad Michael J, Gibson Ronald L, Cutting Garry R, Durie Peter R, Wright Fred A, Zhou Yi-Hui, Blackman Scott M, O'Neal Wanda K, Ling Simon C, Knowles Michael R
Abstract excerpt
BACKGROUND AND AIMS: It is not known why severe cystic fibrosis (CF) liver disease (CFLD) with portal hypertension occurs in only ~7% of people with CF. We aimed to identify genetic modifiers for severe CFLD to improve understanding of disease mechanisms. APPROACH AND RESULTS: Whole-genome sequencing was available in 4082 people with CF with pancreatic insufficiency (n = 516 with severe CFLD; n = 3566 without...
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