THE FREQUENCY OF HFE GENE POLYMORPHISM IN PATIENTS WITH NONALCOHOLIC LIVER DISEASE AND IN PERSONS OF THE GENERAL POPULATION. FEATURES OF METABOLIC DISORDERS

Тhe purpose of the study. The determination of the frequency of polymorphism alleles C 282Y and H63D of the HFE gene in nonalcoholic fatty liver disease (NAFLD) in comparison to individuals from the General population and to identify the peculiarities in the metabolism of porphyrins. Materials and methods. Molecular genetic examination was performed in 454 people. We evaluated the frequency of polymorphism alleles C 282Y and H63D of the HFE gene in patients with NAFLD (major group 112) and compared with the results obtained in the examination of persons General population (comparison group, 342 people). Patients with NAFLD were determined excretory profile of indicators of porphyrin exchange. Results. Polymorphism of the alleles C 282Y and H63D of the HFE gene in patients with NAFLD and in patients the General population is recorded with the same frequency, respectively, at 32.1 % and 33.9 % of cases. In both groups, was often detected polymorphism for alleles С282У, respectively, 26.8 % and 28.1 % of cases. Disorders of porphyrin metabolism diagnosed in 77 (68,8 %) patients had NAFLD. Comparative analysis of detected disorders of porphyrin metabolism in patients with the identified polymorphisms C 282Y and H63D in HFE gene and without it did not reveal fundamental differences in the qualitative characteristics. Patients were recorded with identical violations. In patients with existing polymorphisms C 282Y and H63D in the HFE gene, the frequency of violations and their degree of severity were significantly higher (p < 0,05-0,001). Conclusion. The metabolism of porphyrins can be measured very sensitive “indicator” responsive to the diverse non-specific abnormalities under the wide range of metabolic disorders, including genetic disorders. Detection of the C 282Y and H63D polymorphisms of the HFE gene in combination with disorders of porphyrin metabolism allows us to consider such patients as a risk group who have not excluded an increased risk of formation of liver fibrosis.

C 282Y, H63D, HFE, Non-alcoholic fatty liver disease, the polymorphism of alleles C 282Y and H63D of HFE gene, porphyrin metabolism

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