The polymorphic carboxyl-ester lipase (CEL) gene: novel copy number variants (CNVs) identified by both classical and high-throughput genetic analysis

Objectives We have previously identified CNVs of CEL: one duplication allele (CEL-DUP1) and a recombined deletion allele (CEL-HYB), the latter being a risk factor for chronic pancreatitis. We found no association between these CEL alleles and pancreatic cancer (Dalva et  al., Pancreatology 2017). However, we identified subjects with CEL sequence gain, who tested negative for CEL-DUP1. Here we aimed to characterize these new CEL variants and to investigate their association with pancreatic disease.

Source: Pancreatology - June 1, 2018 Category: Gastroenterology Authors: Karianne Fjeld, Emmanuelle Masson Masson, Patrick Michl, Tomasz Stokowy, He Lin, Solrun J. Steine, Bente B. Johansson, Monica Dalva, Khadija El Jellas, Claudia Ruffert, Wen-Bin Zou, Zhao-Shen Li, P ål R Njølstad, Jian-Min Chen, Zhuan Liao, Stefan Johans Tags: 4. Genetics in pancreatic diseases Source Type: research