Romanian Journal of Medical Practice (Jun 2019)

ANALYSIS OF POLYMORPHIC OPTIONS OF THE ENOS, PNPLA3, CD14 GENES AT ALCOHOLIC LIVER DISEASE

  • V.Ye. Molodtsov,
  • Z.I. Rossokha,
  • O.I. Fediv,
  • H.Ya. Stupnytska

DOI
https://doi.org/10.37897/RJMP.2019.2.8
Journal volume & issue
Vol. 14, no. 2
pp. 134 – 139

Abstract

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Introduction. The development and progression of alcoholic liver disease (ALD) is conditioned and modified by genetic polymorphism and the interaction of genes with numerous factors, among which the important part is the amount of alcohol consumed, the presence of a viral lesion of the liver and the concomitant diseases of the patients. Objective. Evaluation of the frequency of polymorphism genotypes eNOS (rs2070744), PNPLA3 (rs738409), CD14 (rs2569190) at ALD. Methods. Polymorphic variants of eNOS (T-786C), PNPLA3 (C10109G), CD14 (C-159T) genes were analyzed by a polymerase chain reaction in 99 patients with alcoholic liver disease and 21 subjects in the comparison group. Results. The frequency of polymorphous variants of the eNOS (T-786C) gene in the examined groups was: the TT-genotype was found in 21.6% of patients with alcoholic hepatitis (AH), in 48.4% of patients with alcoholic liver cirrhosis (ALC), in 28.6 % of practically healthy persons; TS-genotype – at 64.9%; 40.3%; 61.9% respectively; CC-genotype – in 13.5%; 11.3% and 9.5% respectively. The frequency of polymorphous variants of the PNPLA3 (C10109G) gene: CC-genotype – 54.0%, 48.4%, 61.9% respectively; CG-genotype – 21.6%, 22.6%; 19.05% respectively; GG-genotype – in 24.4%, 29.0%; 19.05% respectively. The frequency of polymorphic variants of the CD 14 (C-159T) gene: CC-genotype – in 32.4%, 40.3%; 23.81% respectively; the CT-genotype – in 48.6%, 35.5%, 52.38%, respectively; the TT-genotype – in 18.9%, 24.2%, 23.81%, respectively. Conclusion. Association between the -786 TT genotype on the e-NOS gene and the development of alcoholic cirrhosis of the liver, as well as between -786 TC as a genotype for the e-NOS gene and the development of alcoholic hepatitis at prolonged alcohol abuse have been established. The absence of a specific one-nucleotide substitution in the e-NOS gene results in the development of a heavier liver injury, despite the same duration of alcohol abuse. Polymorphic variants of PNPLA3 (C10109G), CD14 (C-159T) genes are not additional risk factors for alcoholic liver disease in the examined patients.

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