No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort

Wu, Hao, Zhou, Dai-Zhan, Berki, Dorottya, Geisz, Andrea, Zou, Wen-Bin, Sun, Xiao-Tian, Hu, Liang-Hao, Zhao, Zhen-Hua, Zhao, An-Jing, He, Lin, Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484, Férec, Claude, Chen, Jian-Min, Li, Zhao-Shen, Sahin-Tóth, Miklós and Liao, Zhuan 2017. No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort. Human Mutation 38 (8) , pp. 959-963. 10.1002/humu.23254

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Abstract

Rare functionally defective carboxypeptidase A1 (CPA1) variants have been reported to predispose to nonalcoholic chronic pancreatitis, mainly the idiopathic subtype. However, independent replication has so far been lacking, particularly in Asian cohorts where initial studies employed small sample sizes. Herein we performed targeted next-generation sequencing of the CPA1 gene in 1,112 Han Chinese idiopathic chronic pancreatitis (ICP) patients—the largest ICP cohort so far analyzed in a single population—and 1,580 controls. Sanger sequencing was used to validate called variants, and theCPA1 activity and secretion of all newly found variants were measured.Atotal of 18 rare CPA1 variants were characterized, 11 of which have not been previously described. However,no significant association was noted with ICP irrespective of whether all rare variants [20 out of 1,112 (1.8%) in patients vs. 24 out of 1,580 (1.52%) in controls; P = 0.57] or functionally impaired variants [three out of 1,112 (0.27%) in patients vs. two out of 1,580 (0.13%) in controls; P = 0.68] were considered.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	CPA1 gene; idiopathic chronic pancreatitis; missense mutations; next-generation sequencing; rare variants
Publisher:	Wiley-Blackwell
ISSN:	1059-7794
Date of First Compliant Deposit:	18 July 2017
Date of Acceptance:	9 May 2017
Last Modified:	16 Nov 2024 12:30
URI:	https://orca.cardiff.ac.uk/id/eprint/102518

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