Genetic Factors Involved in the Development and Progression of Nonalcoholic Fatty Liver Disease

The aim of our study was to identify the possible involvement of adiponutrine polymorphysm and of human leukocyte antigens (HLA) in the development of non-alcoholic fatty liver disease (NAFLD).

We included in this study a total of 138 subjects with non-invasive diagnosis of non-alcoholic hepatic steatosis. The patatin-like phospholipase domain containing protein 3 (PNPLA3) rs738409 (adiponutrine) polymorphism was genotyped by allelic discrimination TaqMan PCR assay (5' nuclease assay), using predesigned TaqMan SNP Genotyping Assays. Class I and II HLA antigens were determined by the polymerase chain reaction sequence specific oligonucleotide method (ADN-PCR-SSO). The results were compared with the same data from the control group subjects.

For PNPLA 3 polymorphism we found [CC] genotype in 82 subjects (59,42%), [GC] genotype in 45 (32,61%) and [GG] genotype in 11 subjects (7,97%). The frequency of minor [G] risk allele was 0.25. We found class I and II HLA antigens HLA A24, HLA B15, HLA DR15, HLA DR16, HLA DQ3 and HLA DQ5 more frequent in subjects with hepatic steatosis without any other risk factor and HLA-A2, HLA-32, HLA B18, HLA B49 and HLA B53 in patients with obesity or metabolic syndrome.

Our results are consistent with the literature and show an association of PNPLA3 rs738409 polymorphism with hepatic steatosis. Regarding histocompatibility antigens, we studied for the first time in our country the relationship between HLA and non-alcoholic fatty liver disease.