Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in children and adolescents, with its prevalence further amplified by the global obesity epidemic. The disease increases the risk of more serious complications such as non-alcoholic steatohepatitis (NASH), fibrosis, and cirrhosis. Among the key factors in the development of NAFLD are genetic predispositions, with the PNPLA3 (rs738409) polymorphism associated with a higher risk of disease onset and progression, whereas the MARC1 (rs2642438) polymorphism appears to have a protective effect. Most existing studies have been conducted in adults; consequently, data on the pediatric population is limited.
The aim of this Master’s thesis was to investigate the association between common PNPLA3 and MARC1 polymorphisms and the occurrence of NAFLD in adolescents. The study included 200 adolescents from Montenegro, aged 16–19 years. NAFLD was diagnosed by ultrasound examination. DNA was isolated from whole blood samples, genotyping was performed using hydrolysis probes, and associations with biochemical, anthropometric, and clinical parameters were analyzed.
The MARC1 rs2642438 polymorphism was associated with lower LDL-cholesterol levels across all genetic models, suggesting a protective effect of the A allele. For PNPLA3 rs738409, carriers of the G allele (CG or GG) had lower HDL-cholesterol (dominant model). In the subgroup with NAFLD, PNPLA3 rs738409 was additionally associated with higher total cholesterol (additive and dominant models). No statistically significant associations were observed for liver enzymes or calculated indices (HSI, FLI, PNFI).
In conclusion, genetic factors significantly influence metabolic characteristics related to NAFLD in the adolescent population. This study provides an important contribution to understanding the role of genetics in pediatric NAFLD and highlights the need for further research on genetic markers for the early detection of NAFLD.
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