R117H mutation of the gene encoding the cystic fibrosis transmembrane regulatory protein in patients with chronic relapsing pancreatitis

Abstract

Introduction. Chronic pancreatitis (CP) is a variable part of cystic fibrosis (CF) syndrome caused by mutations in CFTR gene. The objective of the study was to assess the frequency of CFTR gene mutations in patients with chronic relapsing pancreatitis (CRP). Material and methods. The study enrolled 41 patients with CRP and control group (CG), which consisted of 100 healthy people. The R117H mutation of the CFTR gene was confirmed in the Molecular Genetics Laboratory of the Institute of Genetics, Physiology and Plant Protection of the Academy of Sciences of Moldova. As a biological specimen, venous blood was used. The genetic polymorphism was identified through the polymerase chain reaction and analysis of enlarged fragment length and restriction fragment length polymorphism (RFLP), with the use of the respective primers. Results. The study detected the presence of the R117H/CFTR mutation in 31 (75.61%) of CRP patients and in 53 (53%) healthy persons from CG. A more significant difference was demonstrated when evaluating the ratio between homozygous and heterozygous variant of R117H mutation. In the group of the CRP patients, detected with the respective mutation, 11 (35.48%) had homozygous variant and 20 (64.52%) – heterozygous variant; in CG – in 11 (20.75%) persons the homozygous variant and in 42 (79.25%) – the heterozygous variant of the mutation have been confirmed. According to literature data, a high frequency of R117H mutation in heterozygous variant represents a higher risk of developing pancreatic pathology. The predominant CRP installation was confirmed at a young age of 25-34 years (48.8%). Conclusions. The high frequency of R117H/CFTR mutation in the heterogeneous population of the Republic of Moldova, in combination with other genetic and nongenetic risk factors, represents a high degree of risk for the development of pancreatic disorders.

Keywords

• chronic pancreatitis
• cystic fibrosis
• transmembrane conductance mutation r117h/cftr