Home > A high prevalence of genetic polymorphisms in idiopathic and alcohol-associated chronic pancreatitis patients in Ireland.

Ní Chonchubhair, Hazel M and Duggan, Sinead N and Egan, Suzanne M and Kenyon, Marcus and O'Toole, Dermot and McManus, Ross and Conlon, Kevin C (2021) A high prevalence of genetic polymorphisms in idiopathic and alcohol-associated chronic pancreatitis patients in Ireland. HPB : the official journal of the International Hepato Pancreato Biliary Association, 23, (2), pp. 231-237. https://doi.org/10.1016/j.hpb.2020.06.002.

BACKGROUND
Individual genetic architecture is considered central to susceptibility and progression of disease in chronic pancreatitis. The study aimed to evaluate the presence of common pancreatic gene mutations in a defined cohort of idiopathic and alcohol-induced chronic pancreatitis patients in Ireland.

METHODS
The study comprised patients with idiopathic and alcohol-induced chronic pancreatitis and historic controls. Variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, cationic trypsinogen (PRSS1) gene and serine protease inhibitor kazal type-1 (SPINK1) gene, were assessed by Taqman© genotyping assay.

RESULTS
Of n = 126 patients and n = 167 controls, mutations were detected in 23 (20%) and in 10 (6%) respectively (P < 0.001). The majority of mutations found were in the SPINK1 gene variant N34S (13%) which increased disease risk almost six-fold (OR 5.9). Neither CFTR severe mutation (F508del) (P = 0.649) nor mild variant (R117H) (P = 0.327) were over-represented amongst patients compared to control subjects. PRSS1 variants were not detected in either patient or control subjects.

CONCLUSION
There was a significant prevalence of chronic pancreatitis-associated gene mutations in this well-phenotyped cohort. In patients with alcohol-related or idiopathic chronic pancreatitis, the possibility of genetic mutations in the SPINK 1 gene should be considered as a contributing aetiology factor.


Item Type
Article
Publication Type
Irish-related, Article
Drug Type
Alcohol
Intervention Type
Prevention, Harm reduction
Date
February 2021
Identification #
https://doi.org/10.1016/j.hpb.2020.06.002
Page Range
pp. 231-237
Publisher
Science Direct
Volume
23
Number
2
EndNote
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