PNPLA3/adiponutrin I148M gene variant in nonalcoholic fatty liver disease in Egyptian children and adolescents

Objective The aim was to explore the possible association of the PNPLA3/adiponutrin I148M gene variant with nonacholic fatty liver disease (NAFLD) and its severity in overweight and obese Egyptian children and adolescents as such reports are lacking in Egyptian population. Participants and methods In total, 80 overweight and obese NAFLD children and 40 healthy controls were subjected to clinical assessment, laboratory assessment, and genotyping assay for PNPLA3-I148M gene variant. Results There were no significant differences in the distribution of genotypes of the PNPLA3-I148M gene variant between the studied NAFLD patients and controls. In NAFLD children, 62 (77.5%) cases were CC genotype (homozygous for the wild allele), 12 (15%) cases were CG genotype (heterozygous for the risk allele), and six cases (7.5%) were GG genotype (homozygous for the risk allele). The frequency of the C allele (the common allele) was 85%, whereas the frequency of the G allele (the risk allele) was 15%. There was significant increase in mean values of alanine aminotransferase and gamma-glutamyl transferase (P<0.05) and significant increase in the frequency of patients with higher grades of steatosis among the NAFLD patients who were homozygous or heterozygous for the risk G allele (GG and CG genotypes) compared with those with no G allele (wild CC genotype). There were significant positive correlations between PNPLA3-I148M gene variant and obesity indicators among NAFLD children. Conclusions Polymorphisms in the PNPLA3-I148M gene variant may not contribute to NAFLD susceptibility in Egyptian children due to ethnic differences. However, the presence of polymorphisms in the PNPLA3-I148M gene variant may get worse in liver enzymes (alanine aminotransferase and gamma-glutamyl transferase) and grades of steatosis in NAFLD patients.