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Start Over Descriptor "Idiopathic chronic pancreatitis" Journal human mutation
3 results on '"Idiopathic chronic pancreatitis"'

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

Author

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 N., Férec, Claude, Chen, Jian‐Min, Li, Zhao‐Shen, Sahin‐Tóth, Miklós, and Liao, Zhuan

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 the CPA1 activity and secretion of all newly found variants were measured. A total 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. [ABSTRACT FROM AUTHOR]

Published
2017
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2. No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort

Author

Daizhan Zhou, Liang-Hao Hu, Miklós Sahin-Tóth, Wen-Bin Zou, An-Jing Zhao, Andrea Geisz, Xiao-Tian Sun, Zhuan Liao, Zhen-Hua Zhao, Hao Wu, Zhao-Shen Li, David Neil Cooper, Lin He, Jian-Min Chen, Dorottya Berki, and Claude Férec

Subjects
Male, 0301 basic medicine, medicine.medical_specialty, Carboxypeptidases A, Genotype, Idiopathic chronic pancreatitis, Population, Biology, Bioinformatics, Gastroenterology, Article, DNA sequencing, Cohort Studies, 03 medical and health sciences, symbols.namesake, Asian People, Pancreatitis, Chronic, Internal medicine, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, education, Gene, Genetics (clinical), Sanger sequencing, education.field_of_study, medicine.disease, R1, 030104 developmental biology, Mutation, Cohort, symbols, Pancreatitis, Female
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 1112 Han Chinese idiopathic chronic pancreatitis (ICP) patients – the largest ICP cohort so far analyzed in a single population – and 1580 controls. Sanger sequencing was used to validate called variants, and the CPA1 activity and secretion of all newly found variants were measured. A total 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 [20/1112 (1.8%) in patients vs. 24/1580 (1.52%) in controls; P = 0.57] or functionally impaired variants [3/1112 (0.27%) in patients vs. 2/1580 (0.13%) in controls; P = 0.68] were considered. This article is protected by copyright. All rights reserved

Published
2017
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3. Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

Author

Bernhard, Steiner, Jonas, Rosendahl, Heiko, Witt, Niels, Teich, Volker, Keim, Hans-Ulrich, Schulz, Roland, Pfützer, Matthias, Löhr, Matthias, Lühr, Thomas M, Gress, Renate, Nickel, Olfert, Landt, Monika, Koudova, Milan, Macek, Antoni, Farre, Teresa, Casals, Marie-Claire, Desax, Sabina, Gallati, Macarena, Gomez-Lira, Marie Pierre, Audrezet, Claude, Férec, Marie, des Georges, Mireille, Claustres, Kaspar, Truninger, Institute of Medical Microbiology [Zurich], Universität Zürich [Zürich] = University of Zurich (UZH), Etablissement Français du Sang Bretagne, EFS, Department of Gastroenterology, University of Marburg, Department of Biology and Medical Genetics, Charles University Prague, Medical School and University, The Weatherall Institute of Molecular Medicine, University of Oxford [Oxford], Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University of Zurich, and Truninger, K

Subjects
Male, 10039 Institute of Medical Genetics, [SDV]Life Sciences [q-bio], Cystic Fibrosis Transmembrane Conductance Regulator, medicine.disease_cause, Gastroenterology, Vas Deferens, Male Urogenital Diseases, Genotype, Genetics(clinical), CFTR, Child, Genetics (clinical), Genetics, 0303 health sciences, Mutation, education.field_of_study, integumentary system, musculoskeletal, neural, and ocular physiology, 030305 genetics & heredity, Vas deferens, Middle Aged, 3. Good health, idiopathic chronic pancreatitis, medicine.anatomical_structure, Trypsin Inhibitor, Kazal Pancreatic, CBAVD, Adult, 2716 Genetics (clinical), medicine.medical_specialty, Adolescent, Genetic counseling, Population, 610 Medicine & health, Biology, Young Adult, 03 medical and health sciences, 1311 Genetics, Pancreatitis, Chronic, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, education, Infertility, Male, 030304 developmental biology, Haplotype, Epistasis, Genetic, Heterozygote advantage, medicine.disease, nervous system diseases, Haplotypes, 570 Life sciences, biology, Pancreatitis, Carrier Proteins
Abstract

CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common CFTR variants are associated with aberrantly spliced transcripts. Here, we genotyped for common CFTR variants and tested for associations in two ICP (ICP-A: 126 patients, 319 controls; ICP-B: 666 patients, 1,181 controls) and a CBAVD population (305 patients, 319 controls). Haplotype H10 (TG11-T7-470V) conferred protection (ICP-A: OR 0.19, P

Published
2011
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