ArticleBMJ open2013
Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.
Article in BMJ open, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.Human genetics · 2022Pooled it
- Quality of life in children with chronic pancreatitis: An overlooked challenge.World journal of clinical pediatrics · 2025Review
- SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Surgical and Endoscopic Intervention for Chronic Pancreatitis in Children: The Kings College Hospital Experience.Children (Basel, Switzerland) · 2024Review
- A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis.Pediatric investigation · 2023Review
- Genetic Investigations in Turkish Idiopathic Pancreatitis Patients Show Unique Characteristics.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2023Article
- No Stone Left Unturned: Pediatric Pancreatic Stones Presenting With Obstructive Jaundice.JPGN reports · 2022Article
- Personalized medicine approaches in cystic fibrosis related pancreatitis.American journal of translational research · 2022Article
- Review
- Disordered Gut Microbiota in Children Who Have Chronic Pancreatitis and Different Functional Gene Mutations.Clinical and translational gastroenterology · 2020Observational
- Genetic variants in acute, acute recurrent and chronic pancreatitis affect the progression of disease in children.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2019Article
- Risk factors and prediction score for chronic pancreatitis: A nationwide population-based cohort study.World journal of gastroenterology · 2018Article
- Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.Digestive diseases and sciences · 2017Review
- PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.Annals of laboratory medicine · 2016Article
- Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.Molecular medicine (Cambridge, Mass.) · 2016Article
- Common Variants in CLDN2 and MORC4 Genes Confer Disease Susceptibility in Patients with Chronic Pancreatitis.PloS one · 2016Article
- Energetic etiologies of acute pancreatitis: A report of five cases.World journal of gastrointestinal pathophysiology · 2015Article
- Observational
- Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.BMC gastroenterology · 2015Article
- Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.Digestive diseases and sciences · 2015Article
Corrections and comments
- Erratum issuedCorrection.2013
Authors and funding
16 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveGenetic alterations may contribute to chronic pancreatitis (CP) in Chinese young patients. This study was designed to investigate mutations of cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor or serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR), chymotrypsin C (CTRC) and CLDN2 genes and the copy number variations (CNVs) of PRSS1 and asses associations with the development of idiopathic CP (ICP) in Chinese children.
designRetrospective.
settingA single center.
participants75 ICP Chinese children (40 boys and 35 girls). PRIMARY AND SECONDARY OUTCOME MEASURES: Mutations of PRSS1, SPINK1, CFTR, CTRC and CLDN2 genes and CNVs.
results7 patients had heterozygous mutations in PRSS1, that is, N29I (n=1), R122H or R122C (n=6). The CNVs of PRSS1 in five patients had abnormal copies (1 copy (n=4), five copies (n=1)). 43 patients had IVS3+2T>C (rs148954387) (10 homozygous and 33 heterozygous) in SPINK1. None of the PRSS1 mutation patients carried a SPINK1 mutation. Frequency of PRSS1 and SPINK1 mutations was 9.3% and 57.3%, respectively, with an overall frequency of 66.6% (50/75). In addition, one patient had a novel deletion of CFTR (GCTTCCTA from c.500 to c.508 leading to the shortened polypeptide molecule via a stop codon). Another patient had a novel missense in CLDN2 exon 2 (c.592A>C mutation). Clinically, patients with SPINK1 mutations had a higher rate of pancreatic duct stones, pancreatic pseudocyst and pancreatic calcification than those without SPINK1 mutations (p<0.05).
conclusionsSPINK1 mutations were more commonly associated with Chinese children with ICP. SPINK1 IVS3+2T>C mutation may play an important role in the pathogenesis of Chinese paediatric ICP. However, further study is needed to confirm and to investigate the role of these genes in the development of Chinese ICP.
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