Association of Adiponectin Gene Polymorphisms rs17300539, rs266729 and rs1501299 with Adiponectin Levels, Insulin Resistance and Non-Alcoholic Fatty Liver Disease, in an Iranian Population

In this study, we investigated the relationship between polymorphisms in the adiponectin gene and biochemical parameters—specifically adiponectin levels, insulin resistance, and the presence of non-alcoholic fatty liver disease (NAFLD)—in an Iranian population.

We conducted a case–control study comprising 80 individuals with NAFLD and 80 healthy controls. Genotyping of the ADIPOQ gene polymorphisms rs17300539, rs266729, and rs1501299 was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) method, while serum adiponectin and insulin levels were quantified via enzyme linked immunosorbent assay (ELISA).

Our findings demonstrated that patients exhibited significantly higher serum triglyceride levels, fasting blood glucose, aspartate aminotransferase (AST), alanine aminotransferase (ALT), and diastolic blood pressure compared to healthy individuals. In contrast, adiponectin and high density lipoprotein cholesterol (HDL-C) levels were significantly lower in patients, and body mass index (BMI) was significantly elevated (P < 0.05). None of the analyzed single nucleotide polymorphisms (SNPs) were associated with insulin resistance. However, there was a significant difference in both genotype and allele frequencies of the rs1501299 variant between the patient and control groups. Additionally, within the case group for rs17300539, GA carriers had a higher BMI than GG carriers. Moreover, significant associations were observed between the rs17300539 and rs266729 polymorphisms and AST levels (P < 0.05).

Our results suggest that the G allele of rs17300539 in the adiponectin gene may play a protective role by reducing the complications associated with NAFLD, while the rs1501299 polymorphism appears to be associated with an increased risk of NAFLD.