Introduction: In light of scientific progress made in the last few decades, the role of genetic factors in susceptibility to chronic pancreatitis (CP) becomes more obvious. Materials and methods: 100 patients with CP, m/f-55/45, median age - 47.02±0.93 were part of the study, as follows: CP with relapses (CPR)-41, pseudotumoral CP (PsTCP)-21, latent CP (LCP)-38 and the control group (CG)-100 healthy persons. The R122C mutation of the PRSS1 gene (R122C) was confirmed in The Molecular Genetics Laboratory of the Institute of Genetics of the ASRM, venous blood being used as the biological sample; the genetic polymorphism was identified through the analysis of enlarged fragment length and restriction fragment length polymorphism (RFLP), with the use of the respective primers. Results: The study confirmed the presence of the R122C mutation (PRSS1) in 68% of patients with CP and 63% of the CG, χ2 =0.55, p>0.05, including in: CPR-28 (68.29%) patients, LCP-25 (65.79%), PsTCP-15 (71.43%), χ2 =0.20, p>0.05; heterozygous variant: in patients-42%, CG-61%, homozygotes-26% vs 2%, χ2 =24.44, p<0.001. In its heterozygous form, the mutation was more frequently detected in patients with PsTCP- in 11 (52.38 %), exceeding those with CPR by 2.26 times and LCP by 1.42 times, but at the same time 1.16 times less frequent vs CG; CPR –in 17 (41.46%), 1.47 times less frequent vs CG; LCP - in 14 (36.84%), 1.66 times less frequent vs CG. In its homozygous form, the mutation was more frequently detected in patients with LCP - in 11 (28.95 %), exceeding CPR by 1.08 times, 1.52 times in PsTCP, 14.48 times in CG; in CPR - 11 (26.83%), exceeding CG by 13.42 times; in PsTCP – 4 (19.05%), 9.53 times more frequent vs CG, without a statistically significant difference between the different groups of CP. Conclusions: The study confirmed the presence of the cationic trypsinogen R122C mutation in patients with CP and in the healthy heterogenous population of RM. The homozygous variant of the R122C (PRSS1) mutation prevails with a statistical significance in patients with CP, in the absence of a statistically significant diference between different clinical froms of CP.

Întroducere: În virtutea progreselor ştiinţifice din ultimele decenii, rolul factorilor genetici în susceptibilitatea pentru pancreatita cronică (PC) devine tot mai evident. Material si metoda: 100 de pacienți cu PC, b/f-55/45, vîrsta medie - 47.02±0.93 ani au fost supuşi studiului, inclusiv cu: PC cu recidive (PCR)-41, PC pseudotumoroasă (PCPsT)-21, PC latentă (PCL)-38 şi grupul de control (GC)-100 persoane practic sănătoase. Mutaţia R122C a genei PRSS1 (R122C) a fost confirmată în Laboratorul de Genetică Moleculară al Institutului de Genetică al AŞRM, ca specimen biologic folosit șîngele venos; polimorfismul genetic identificat prin metoda de analiză a lungimii fragmentelor amplificate şi a fragmentelor polimorfe de restricţie (restriction fragment length polymorphism, RFLP), cu utilizarea primerilor respectiv. Rezultate: Studiul a confirmat prezenţa mutaţiei R122C (PRSS1) la 68% din pacienţii cu PC şi 63% GC, χ2 =0.55, p>0.05, inclusiv în: PCR-la 28 (68.29%) pacienţi, PCL- 25 (65.79%), PCPsT-15 (71.43%), χ2 =0.20, p>0.05; varianta heterozigotă: la pacienţi-42%, GC-61%, homozigoţi-26% vs 2%, χ2 =24.44, p<0.001. În forma heterozigotă mutaţia a fost decelată mai frecvent la pacienţii cu PCPsT- la 11 (52.38 %), depăşind de 2.26 ori PCR şi 1.42 PCL, dar de 1.16 ori mai rar vs GC; PCR –la 17 (41.46%), fiind de 1,47 ori mai rar vs GC; PCL - la 14 ( 36.84%), fiind de 1.66 ori mai rar vs GC. În forma homozigotă a fost întîlnită mai frecvent la pacienţii cu PCL- la 11 (28.95 %), depăşind de 1.08 ori PCR, 1.52 ori PCPsT, 14.48 ori GC; în PCR - la 11 (26.83%), depăşind de 13.42 ori GC; în PCPsT –la 4 (19,05%), de 9,53 ori mai frecvent vs GC, fără o diferenţă statistic semnificativă între diferite grupe de PC. Concluzii: 1. Studiul a confirmat prezenţa frecventă a mutaţiei R122C a tripsiogenului cationic la pacienţii cu PC şi în populaţia sănătoasă heterogenă din RM. Varianta homozigotă a mutaţiei R122C (PRSS1) prevalează statistic semnificativ la pacienţii cu PC, în lipsa unei diferenţe semnificative între diferite forme clinice de PC.