Introduction: Chronic pancreatitis (CP) is a complex multifactorial disease, a source of substantially growing morbidity, mortality and treatment costs. Materials and methods: 100 patients with CP, m/f-55/45, median age - 47.02±0.93 and 100 healthy persons were examined. Molecular and genetic investigations of the SPINK1 (N34S), PRSS1 (R122C), CFTR (R117H ) genes were conducted in the Molecular Genetics Laboratory of the Institute of Genetics of the ASRM. Venous blood was used as a biological sample; the polymorphism of the candidate genes was identified through the analysis of enlarged fragment length and restriction fragment length polymorphism (RFLP), with the use of the respective primers. Results: The results of the studies show a high relative estimated risk (OR) in persons who consume alcohol - 23.22, at a confidence interval (CI) of 95% (from 8.18- to 71.04), χ2=57.17, p<0.001. Smoking has an OR of 9.41, 95% CI (3.91 - 23.45), χ2=33.27, p<0.001; dyslipidemia: hypercholesterolaemia – OR= 2.41, 95% CI (1.18 - 4.96), χ2=6.00, p<0.05, hypertriglyceridemia – OR=66.00, 95% CI ( 9.36 - 1339.01), χ2=44.30, p<0.001; persons with a family history of CP- OR = 3.84, 95% CI (1.99 – 7.46). A higher risk has been noted in persons that have the homozygous variant of the aforementioned mutations: R117H (CFTR) heterozygous - OR=2.59, 95% CI (1.30-5.25), χ2=7.53, p<0.01, homozygous – OR= 5.24, 95% CI ( 2.04-13.73), χ2=13.61, p<0.001 ; R122C (PRSS1) homozygous - OR =15.03, 95% CI (3.08- 99.29), χ2=16.02, p<0.001; N34S (SPINK1) homozygous – OR =5.47, 95% CI (1.93-15.94), χ2=11.74, p=0.001. A relative risk cannot be calculated for the heterozygous variant of the R122C (SPINK1) and N34S (SPINK1) mutations, because there are no statistically significant differences between the CP patient group and the CG, p>0.05. Conclusions: 1. A high relative estimated risk of CP was demonstrated in persons who consume alcohol ( OR = 23.22), in hypertriglyceridemia (OR = 66.00), in smokers (OR = 9.41), for BMI > 25 (OR = 6.70), in hypercholesterolaemia (OR = 2.41), in persons with a family history of CP (OR=3.84). 2. The relative estimated risk for the development of CP is higher in the presence of the homozygous variant of the R122C (PRSS1) mutation - OR =15.03, exceeding by 2.87 times the relative risk in the R122H (CFTR) mutation and by 2.75 times the relative risk in the N34S (SPINK1) mutation.

Introducere: Pancreatita cronică (PC) este o patologie complexă, polifactorială, fiind o sursă de morbiditate, mortalitate şi cost substanţial în creştere. Material si metoda: S-au examinat 100 de pacienți cu PC, b/f-55/45, vîrsta medie - 47.02±0.93 ani şi 100 persoane practic sănătoase. Investigaţiile molecular-genetice ale genelor SPINK1 (N34S), PRSS1 (R122C), CFTR (R117H ) s-au realizat în Laboratorul de Genetică Moleculară al Institutului de Genetică al AŞRM. Ca specimen biologic a fost folosit șîngele venos; polimorfismul genelor candidate s-a 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: Rezultatele studiului atestă un risc relativ estimat (OR) înalt la persoanele, care consumă alcool- 23.22, la un interval de confidenţă (CI) de 95% ( de la 8.18- la 71.04), χ2=57.17, p<0.001. Tabagismul are un OR de 9.41, 95% CI (3.91 - 23.45), χ2=33.27, p<0.001; dislipidemiile: hipercolesterolemia – OR= 2.41, 95% CI ( 1,18 – la 4.96), χ2=6.00, p<0.05, hipertrigliceridemia – OR=66.00, 95% CI ( 9.36 - 1339.01), χ2=44.30, p<0.001; persoanele cu anamneză familială de PC- OR = 3,84, 95% CI (1.99 – 7.46). S-a constatat un risc mai înalt la persoanele care au mutaţiile studiate în varianta homozigotă: R117H (CFTR) heterozigoţi - OR=2.59, 95% CI (1,30-5.25), χ2=7.53, p<0.01, homozigoţi – OR= 5.24, 95% CI ( 2.04- 13.73), χ2=13.61, p<0.001 ; R122C (PRSS1) homozigoţi - OR =15.03, 95% CI (3.08 – 99.29), χ2=16.02, p<0.001; N34S (SPINK1) homozigoţi – OR =5.47, 95% CI (1.93 – 15.94), χ2=11.74, p=0.001. Pentru varianta heterozigotă a mutaţiilor R122C (SPINK1) şi N34S (SPINK1) nu poate fi calculat riscul relativ, deoarece nu există diferenţe statistic semnificative între lotul de pacienţi cu PC şi lotul martor, p>0.05. Concluzii: 1. S-a demonstrat un risc relativ estimat înalt pentru PC la persoanele, care consumă alcool ( OR = 23.22), în hipertrigliceridemie (OR = 66.00), în tabagism (OR = 9.41), la IMC > 25 (OR = 6.70), în hipercolesterolemie (OR = 2.41), la persoanele cu anamneză familială de PC (OR=3.84). 2. Riscul relativ estimat pentru dezvoltarea PC este mai înalt în prezenţa variantei homozigote a mutaţiei R122C (PRSS1)-OR =15.03, depăşind de 2.87 ori riscul relativ în mutaţia R122H (CFTR) şi de 2.75 ori riscul relativ în mutaţia N34S (SPINK1).