Abstract: Objective The aim of this study was to analyze the correlation of rs738409 gene polymorphism of patatin like phospholipase domain containing protein 3 (PNPLA3) to genetic susceptibility of patients with nonalcoholic fatty liver diseases (NAFLD). Methods 162 patients with NAFLD and 100 healthy persons were recruited in our hospital between November 2017 and November 2019. The peripheral blood PNPLA3 rs738409 locus polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism. Results The frequencies of GG genotypes and the frequencies of G alleles at rs738409 locus of PNPLA3 gene in patients with NAFLD were 37.0% and 58.3%, both significantly higher than 11.0% and 34.0% (P<0.05) in healthy individuals, while the frequencies of GC and CC genotypes were 42.6% and 20.4%, the frequency of C allele was 41.7%, all not significantly different compared to 46.0%, 43.0% and 66.0% in the control (P>0.05); serum alanine aminotransferase and aspartate aminotransferase levels in 73 NAFLD patients with GG genotype were (118.5±20.3)U/L and (85.2±14.7)U/L, both significantly higher than [(93.3±16.4)U/L and (59.6±10.3)U/L, respectively, P<0.05] in 65 patients with GC genotype or [(65.9±11.8)U/L and (31.9±5.5)U/L, respectively, P<0.05] in 24 patients with CC genotype; serum triglyceride levels in patients with GG and GC genotypes were (2.0±0.5)mmol/L and (1.6±0.4)mmol/L, both significantly higher than [(1.1±0.2)mmol/L, P<0.05] in NAFLD patients with CC genotype. Conclusion Our findings suggest that the PNPLA3 rs738409 gene polymorphism might be related to genetic susceptibility of individuals to NAFLD, and the mechanism involved needs further studied.

Key words: Nonalcoholic fatty liver diseases, Patatin like phospholipase domain containing protein 3, Single nucleotide polymorphism, Susceptibility