Abstract
Abstract Acute pancreatitis represents an acute nonbacterial inflammation of the pancreas caused by a premature and ectopic activation of pancreatic digestive enzymes. Two of the most important genes in pancreatic autodigestion, PRSS1 and SPINK1, were implicated in the earliest discoveries of the genetic background of pancreatitis. However, the distribution of their variations displays interethnic variability, which could significantly affect the magnitude of their proposed effects on this disease worldwide. The aim of the present study was to investigate the distribution of the most important functional variations of PRSS1 (86A>T and 365G>A) and SPINK1 (101A>G), and their influence on the clinical course of acute pancreatitis in Serbian patients. The study enrolled 81 subjects, the severity of disease course was determined using the Atlanta Classification system, and the genotyping was conducted using a PCR-RFLP method. PRSS1 86A>T and 365G>A SNPs were not observed in the study population, while SPINK1 101A>G was present with the frequency of 0.62% (95% CI: 0.00, 3.83%). Due to extremely low frequencies or absences of examined variations, the proposed effect of these SNPs on the severity of acute pancreatitis could not be confirmed. The results do not support routine genotyping of either PRSS1 or SPINK1 in Serbs.
Highlights
Acute pancreatitis represents an acute nonbacterial inflammation of the pancreas caused by a premature and ectopic activation of pancreatic digestive enzymes
pancreatic secretory trypsin inhibitor (SPINK1) variant 101G was present in the study population with a frequency of 0.62%, as only one study subject was a heterozygous carrier
This patient was a 48-years old overweight male (BMI: 29.3 kg/m2), cigarette smoker (20 cigarettes per day) and long-term (10 years) alcohol consumer (3 alcohol drinks per day) with confirmed gallstone disease, who developed a severe form of acute necrotizing pancreatitis with pancreatic pseudocyst. This was his first attack of acute pancreatitis, and no one in his family suffered from this condition before
Summary
Acute pancreatitis represents an acute nonbacterial inflammation of the pancreas caused by a premature and ectopic activation of pancreatic digestive enzymes. The aim of the present study was to investigate the distribution of the most important functional variations of PRSS1 (86A>T and 365G>A) and SPINK1 (101A>G), and their influence on the clinical course of acute pancreatitis in Serbian patients. PRSS1 86A>T and 365G>A SNPs were not observed in the study population, while SPINK1 101A>G was present with the frequency of 0.62% (95% CI: 0.00, 3.83%). Cilj ove studije bio je da ispita distribuciju najznačajnijih funkcionalnih varijacija gena PRSS1 (86A>T i 365G>A) i SPINK1 (101A>G), kao i njihov uticaj na kliničku sliku bolesti, kod Srba obolelih od akutnog pankreatitisa. PRSS1 - cationic trypsinogen (protease serine type 1); SPINK1 - pancreatic secretory trypsin inhibitor (serine protease inhibitor Kazal type 1); SNP - Single nucleotide polymorphism; EDTA - ethylene diamine tetracetic acid; PCR - Polymerase chain reaction; PCR-RFLP - Polymerase chain reaction-restriction fragment length polymorphism
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