2024 article

Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis

Stonebraker, J., Pace, R., Gallins, P., Dang, H., Aksit, M., Faino, A., … Knowles, M. (2024, March 27). HEPATOLOGY, Vol. 3.

By: J. Stonebraker *, R. Pace *, P. Gallins n, H. Dang *, M. Aksit *, A. Faino, W. Gordon *, S. Macparland * ...

author keywords: MAIT cells; whole genome sequencing; GWAS; TWAS; CFLD
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Added: April 15, 2024

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.