Endoplasmic stress-inducing variants in carboxyl ester lipase and pancreatic cancer risk

Makoto Kawamoto, Takeichi Yoshida, Koji Tamura, Mohamad Dbouk, Marcia Irene Canto, Richard Burkhart, Jin He, Nicholas J. Roberts, Alison P. Klein, Michael Goggins

研究成果: ジャーナルへの寄稿学術誌査読

抄録

Background: Endoplasmic reticulum (ER) stress-inducing variants in several pancreatic secretory enzymes have been associated with pancreatic disease. Multiple variants in CEL, encoding carboxyl ester lipase, are known to cause maturity-onset diabetes of the young (MODY8) but have not been implicated in pancreatic cancer risk. Methods: The prevalence of ER stress-inducing variants in the CEL gene was compared among pancreatic cancer cases vs. controls. Variants were identified by next-generation sequencing and confirmed by Sanger sequencing. Variants of uncertain significance (VUS) were assessed for their effect on the secretion of CEL protein and variants with reduced protein secretion were evaluated to determine if they induced endoplasmic reticulum stress. Results: ER stress-inducing CEL variants were found in 34 of 986 cases with sporadic pancreatic ductal adenocarcinoma, and 21 of 1045 controls (P = 0.055). Most of the variants were either the CEL-HYB1 variant, the I488T variant, or the combined CEL-HYB1/I488T variant; one case had a MODY8 variant. Conclusion: This case/control analysis finds ER stress-inducing CEL variants are not associated with an increased likelihood of having pancreatic cancer.

本文言語英語
ジャーナルPancreatology
DOI
出版ステータス印刷中 - 2022
外部発表はい

!!!All Science Journal Classification (ASJC) codes

  • 内分泌学、糖尿病および代謝内科学
  • 肝臓学
  • 消化器病学

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