Key result
The PNPLA3 rs738409 GG genotype was significantly associated with clinic-based non-alcoholic fatty liver disease (OR 2.66), whereas no association was found for population-based NAFLD or the TM6SF2 rs58542926 polymorphism.
Why the study?
Genetic predisposition increases susceptibility to non-alcoholic fatty liver disease, but the association of PNPLA3 rs738409 and TM6SF2 rs58542926 polymorphisms required investigation in the Iranian population.
Are PNPLA3 rs738409 and TM6SF2 rs58542926 polymorphisms associated with NAFLD in the Iranian population?
Case-Control (n=291)
Yes
Are PNPLA3 rs738409 and TM6SF2 rs58542926 polymorphisms associated with NAFLD in the Iranian population?
Odds Ratio: 2.66 (95% CI 1.09–6.54)
Absolute Event Rate: 19.2% vs 8.2%
p-value: p=0.04
The PNPLA3 rs738409 polymorphism is associated with clinic-based NAFLD in the Iranian population, while TM6SF2 rs58542926 is not.
PNPLA3 variant may link to clinic-based NAFLD in Iranians; leaves open population-level validation and TM6SF2 role before genotyping.
Background: Non-alcoholic fatty liver disease (NAFLD) is a burgeoning health problem worldwide. Genetic predisposition increases susceptibility to NAFLD. The PNPLA3 rs738409 and TM6SF2 rs58542926 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 PNPLA3 rs738409 polymorphism was associated with NAFLD in the CB-NAFLD cohort; however, the same was not observed for the PB-NAFLD cohort. The TM6SF2 rs58542926 polymorphism was not associated with NAFLD in the Iranian population.
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Maleki et al. (2022) conducted a case-control in Non-alcoholic Fatty Liver Disease (NAFLD) (n=291). PNPLA3 rs738409 and TM6SF2 rs58542926 polymorphisms vs. Healthy individuals without NAFLD was evaluated on Association of PNPLA3 rs738409 GG genotype with clinic-based NAFLD (OR 2.66, 95% CI 1.09-6.54, p=0.04). The PNPLA3 rs738409 GG genotype was significantly associated with clinic-based non-alcoholic fatty liver disease (OR 2.66), whereas no association was found for population-based NAFLD or the TM6SF2 rs58542926 polymorphism.
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