Article
Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Sept 2022
Tóth Andrea, Demcsák Alexandra, Zankl Florence, Oracz Grzegorz, Unger Lara Sophie, Bugert Peter, Laumen Helmut, Párniczky Andrea, Hegyi Péter, Rosendahl Jonas, Gambin Tomasz, Płoski Rafał, Koziel Dorota, Gluszek Stanisław, Lindgren Fredrik, Löhr J Matthias, Sahin-Tóth Miklós, Witt Heiko, Rygiel Agnieszka Magdalena, Ewers Maren, Hegyi Eszter
Abstract excerpt
BACKGROUND: Genetic alterations in digestive enzymes have been associated with chronic pancreatitis (CP). Recently, chymotrypsin like elastase 3B (CELA3B) emerged as a novel risk gene. Thus, we evaluated CELA3B in two European cohorts with CP. METHODS: We analyzed all 8 CELA3B exons in 550 German non-alcoholic CP (NACP) patients and in 241 German controls by targeted DNA sequencing. In addition, we analyzed exons...
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