Carboxyl ester lipase hybrid 1 (CEL-HYB1) haplotypes confer varying risk for chronic pancreatitis

Carboxyl ester lipase hybrid 1 (CEL-HYB1) haplotypes confer varying risk for chronic pancreatitis

Abstract The CEL-HYB1 hybrid allele of the carboxyl ester lipase (CEL) gene and its pseudogene (CELP) has been associated with chronic pancreatitis (CP). Recent work indicated that amino acid positions 488 and 548 in CEL-HYB1 determined pathogenicity. Haplotype Thr488-Ile548 was associated with CP w...

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Main Authors: Gergő Berke, Máté Sándor, Xunjun K. Xiao, Mark E. Lowe, Maren Ewers, Bálint Erőss, Emmanuelle Masson, Balázs Csaba Németh, Áron Vincze, László Czakó, Agnieszka Magdalena Rygiel, Jonas Rosendahl, Jian-Min Chen, Heiko Witt, Péter Hegyi, Miklós Sahin-Tóth, Eszter Hegyi
Format: Article
Language:English
Published: Nature Portfolio 2024-12-01
Series:Scientific Reports
Subjects:
Pancreatitis
Genetic association study
Lipase
Misfolding
Endoplasmic reticulum stress
Online Access:https://doi.org/10.1038/s41598-024-82077-4
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