Genetic Polymorphisms in Bulgarian Children with Non-alcoholic Fatty Liver Disease
Keywords:children, GCKR P446L, NAFLD, PNPLA3 I148M, TM6SF2 E167K
Non-alcoholic fatty liver disease (NAFLD) is a multifactorial, highly prevalent liver disease in children. There is growing evidence that some genetic variants are associated with its development and rapid progression. The aim of this study was to assess the prevalence of specific single-nucleotide polymorphisms – PNPLA3 I148M, GCKR P446L, TM6SF2 E167K in Bulgarian children with NAFLD.
We conducted a single-centre, prospective study of 32 children (22 patients with NAFLD and 10 healthy controls). Genetic testing and abdominal ultrasound were performed in all study participants. In the patients with NAFLD were additionally analyzed anthropometric parameters and standard biochemical tests, 10 of them underwent a liver biopsy for assessing disease activity and fibrosis.
The most common polymorphism was GCKR P446L, detected in 75% of the studied population, followed by PNPLA3 I148M (50.0% of the studied population) and TM6SF2 E167K (9.4% of the studied population). The GCKR
P446L gene variant was more common in patients with NAFLD than in healthy controls (86.4% vs. 50.0%, p = 0:03). Furthermore, significantly more patients with NAFLD were homozygous carriers of GCKR P446L compared to healthy controls (54.5% vs. 10.0%, p = 0:025). Both patients with histologically proven significant liver fibrosis were carriers of GCKR P446L.
In the present study we found a high prevalence of GCKR P446L polymorphism among children with NAFLD, suggesting that this gene variant is associated with development of NAFLD in the Bulgarian pediatric population.
How to Cite
LicenseCopyright (c) 2022 Proceedings of the Bulgarian Academy of Sciences
Copyright (c) 2022 Proceedings of the Bulgarian Academy of Sciences
Copyright is subject to the protection of the Bulgarian Copyright and Associated Rights Act. The copyright holder of all articles on this site is Proceedings of the Bulgarian Academy of Sciences. If you want to reuse any part of the content, please, contact us.