association of pnpla3 rs738409 and tm6sf2 rs58542926polymorphisms with non-alcoholic fatty liver disease in the iranian population

Background: non-alcoholic fatty liver disease (nafld) is a burgeoning health problem worldwide. genetic predisposition increases susceptibility to nafld. the pnpla3rs738409 and tm6sf2rs58542926 polymorphisms are genetic risk factors for nafld. objectives: this study aimed to investigate the association of rs738409 and rs58542926 polymorphisms with nafld among the iranian population in two groups: (1) population-based nafld (pb-nafld), and (2) clinic-based nafld (cb-nafld). methods: this case-control study included a group of healthy individuals without nafld as the control group and two case groups, pb-nafld and cb-nafld. all individuals underwent clinical and laboratory assessments and were also diagnosed using ultrasonography. genotyping for rs738409 and rs58542926 polymorphisms was carried out by the pcr-rflp method. results: a total of 110 control, 108 pb-nafld, and 73 cb-nafld individuals were included in the study. the distribution of rs738409 gg+cg in the pb-nafld was 39.8% while it was 52.7% in the control group (p = 0.06, or = 0.59). the distribution of rs738409 gg in the cb-nafld was 19.2%, while it was 8.2% in the control group (p = 0.04, or = 2.66). the distribution of rs58542926 genotypes was not significantly different between the nafld and control groups. in multivariate analysis, metabolic syndrome (or = 2.85) and bmi > 25 (or = 3.32) were independent determinants of nafld in the pb-nafld group, and bmi > 25 (or = 7.15) was an independent determinant of nafld in the cb-nafld group. conclusions: in this study, the pnpla3rs738409 polymorphism was associated with nafld in the cb-nafld cohort; however, the same was not observed for the pb-nafld cohort. the tm6sf2rs58542926 polymorphism was not associated with nafld in the iranian population.