SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis

SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/S41424-018-0069-5
P932PMC publication ID6232107
P698PubMed publication ID30420730

P50authorDavid N. CooperQ30503192
P2093author name stringLei Wang
Hao Wu
Lin He
Jian-Min Chen
Lei Xin
Wei Qian
Dong Yu
Fei-Fei Yu
Zhao-Shen Li
Liang-Hao Hu
Claude Férec
Zhuan Liao
Li-Juan Wang
Zhen-Hua Zhao
Dai-Zhan Zhou
Wen-Bin Zou
Xue Fang
Min-Jun Wang
Emmanuelle Masson
Jin-Huan Lin
Hong-Yu Wu
An-Jing Zhao
Yang-Yang Qian
Jia-Hui Zhu
Xin-Ying Tang
Shun-Jiang Deng
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Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen geneQ24311652
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitisQ24645261
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitisQ28145585
Clinical and genetic characteristics of hereditary pancreatitis in EuropeQ28250117
Primer3--new capabilities and interfacesQ29614816
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patientsQ30000783
Epidemiology of chronic pancreatitis: burden of the disease and consequencesQ30427447
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitisQ30528817
Nationwide survey of hereditary pancreatitis in JapanQ50238364
Pancreatitis and the risk of pancreatic cancer. International Pancreatitis Study Group.Q51056982
Chronic pancreatitis.Q52519464
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.Q55067851
Hereditary pancreatitis caused by triplication of the trypsinogen locusQ79314164
Smoking and the course of recurrent acute and chronic alcoholic pancreatitis: a dose-dependent relationshipQ85242698
Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An updateQ88155984
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitisQ30815377
The impact of rare and low-frequency genetic variants in common diseaseQ33613854
Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent PathwayQ33843764
Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA.Q34278191
The UK10K project identifies rare variants in health and diseaseQ34494047
Alcohol and Smoking as Risk Factors in an Epidemiology Study of Patients With Chronic PancreatitisQ34594385
Chronic pancreatitis: Asia-Pacific consensus reportQ34619449
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitisQ34732835
Smoking and risk of acute and chronic pancreatitis among women and men: a population-based cohort studyQ34967416
Alcohol consumption, cigarette smoking, and the risk of recurrent acute and chronic pancreatitis.Q34985636
HGVS Recommendations for the Description of Sequence Variants: 2016 UpdateQ35941614
Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in JapaneseQ35958547
Idiopathic chronic pancreatitisQ37061039
PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic PancreatitisQ37231509
Variants in CPA1 are strongly associated with early onset chronic pancreatitisQ37540036
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitisQ37660241
No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian PopulationsQ37737642
Smoking as a cofactor for causation of chronic pancreatitis: a meta-analysisQ37771844
Chronic pancreatitis and exocrine insufficiencyQ37922962
Mutations of the cystic fibrosis gene in patients with chronic pancreatitisQ38502091
Combination of Alcohol and Cigarette Smoke Induces Endoplasmic Reticulum Stress and Cell Death in Pancreatic Acinar CellsQ38694019
Global incidence and mortality of pancreatic diseases: a systematic review, meta-analysis, and meta-regression of population-based cohort studiesQ38731062
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotypeQ38757404
Quality of Life in Chronic Pancreatitis is Determined by Constant Pain, Disability/Unemployment, Current Smoking, and Associated Co-MorbiditiesQ38937683
Endoscopic management of early-stage chronic pancreatitis based on M-ANNHEIM classification system: a prospective studyQ39208764
An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic PancreatitisQ39260953
Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitisQ40103441
[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding siteQ42844578
Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitisQ43626455
The natural history of hereditary pancreatitis: a national seriesQ43900582
Aryl Hydrocarbon Receptor Ligands in Cigarette Smoke Induce Production of Interleukin-22 to Promote Pancreatic Fibrosis in Models of Chronic Pancreatitis.Q44448055
Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication studyQ44741070
Presence of SPINK-1 variant alters the course of chronic pancreatitisQ44963821
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?Q46039599
Targeted Gene Next-Generation Sequencing in Chinese Children with Chronic Pancreatitis and Acute Recurrent PancreatitisQ47367097
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohortQ48153726
Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitisQ48271163
The CTRB1-CTRB2 risk allele for chronic pancreatitis discovered in European populations does not contribute to disease risk variation in the Chinese population due to near allele fixationQ48284452
P433issue11
P407language of work or nameEnglishQ1860
P921main subjectgastroenterologyQ120569
chronic pancreatitisQ1996053
P304page(s)204
P577publication date2018-11-12
P1433published inClinical and translational gastroenterologyQ27723002
P1476titleSPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis
P478volume9

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cites work (P2860)
Q64240680Identification of key pathways and candidate genes in pancreatic ductal adenocarcinoma using bioinformatics analysis
Q94558752TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population
Q64239617Toward a clinical diagnostic pipeline for SPINK1 intronic variants

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