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Article

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

Scientific reports - 28 Dec 2024

Berke Gergő, Sándor Máté, Xiao Xunjun K, Lowe Mark E, Ewers Maren, Erőss Bálint, Masson Emmanuelle, Németh Balázs Csaba, Vincze Áron, Czakó László, Rygiel Agnieszka Magdalena, Rosendahl Jonas, Chen Jian-Min, Witt Heiko, Hegyi Péter, Sahin-Tóth Miklós, Hegyi Eszter

Abstract excerpt

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 while haplotypes Thr488-Thr548 and Ile488-Thr548 were benign. However, functional analysis revealed that Thr488 is the primary...

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PMID: 39730750
DOI: 10.1038/s41598-024-82077-4
PMCID: PMC11680782

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