#147 - A New Overview of Children With Hepatic Steatosis Associated With Metabolic Dysfunction and Its Pnpla3 and Nfe2l2 Polymorphisms.

This is the authors' abstract. We don't add key points for this paper.

Introduction and Objectives The treatment of MASLD has traditionally focused on lifestyle modifications, emphasizing a healthy diet and physical activity. However, the prevalence of both MASLD and obesity continues to rise. Various factors, including environmental and genetic factors, such as SNPs in PNPLA3, contribute to the complexity of achieving effective managemen. Objectives Analyzing the PNPLA3 and NFE2L2 polymorphisms in a Mexican pediatric population with obesity and MASLD. Materials and Methods This cross-sectional study included 181 pediatric patients (6 to 17 years old) from the obesity clinic at the Iztapalapa Pediatric Hospital. Subjects were classified as having or not having MASLD, based on liver ultrasound. Anthropometric, clinical, and biochemical data were assessed. Genotypic and allelic frequencies of the NFE2L2 and PNPLA3 genes were also obtained. Pearson's chi-squared test (X²) was used to compare the number of alleles, using the 1000 Genomes Project as a reference. Results There were 101 patients with MASLD and 80 without. Anthropometric data revealed no differences between groups. The allele frequency of the variants was 42.5% for NFE2L2 and 36% for PNPLA3; our population had a different frequency than that reported for NFE2L2. Conclusions The NFE2L2 CC genotype is highly prevalent in our population and may confer susceptibility to elevated levels of oxidative stress. The PNPLA3 variant, associated with the risk of developing fibrosis and cirrhosis in MASLD, was found to have a low genotypic frequency in our study. This indicates that the studied population possesses the allele that confers protection.