The association of genetic variations in PNPLA3, TM6SF2 and HSD17B13 genes in non-alcoholic fatty liver disease patients with and without HIV infection.

Abstract

Non-alcoholic liver disease (NAFLD) has multiple risk factors, including genetic risk factors. Patients with certain genetic variants are more susceptible to the disease. People living with HIV (PLWH) have higher prevalence of NAFLD compared to those without HIV infection. But, the evidence on genetic factors in PLWH with NAFLD is limited. We aim to investigate whether carriers of PNPLA3 rs738409, TM6SF2 rs58542926, and HSD17B13 rs6834314 had association with the risk of NAFLD, and whether PLWH with NAFLD also had similar genetic risk factors as those with NAFLD alone. These SNPs were determined by using allelic discrimination in blood samples of 531 individuals. The NAFLD group showed a higher frequency of PNPLA3 GG genotype compared to healthy controls, associated with increased odds of NAFLD (OR 3.778; 95%CI 1.72-8.28). Comparing the NAFLD and NAFLD+HIV groups, the NAFLD group had higher frequencies of CG and GG genotypes of PNPLA3 and lower frequency of GG genotype of HSD17B13. The multivariate analysis revealed several factors that remained significantly different between the two groups, including age, CAP, BMI, ALT, HDL, gender, PNPLA3 GG genotype, and HSD17B13 GG genotype. In conclusion, PNPLA3 rs738409 was associated with NAFLD development while other SNPs were not significantly associated with NAFLD. The genotypes for NAFLD+HIV were not significantly different from healthy controls.