Key result
HFE gene variants rs1800730 and rs1799945 linked to NAFLD and dyslipidemia.
Why the study?
Hereditary predictors of iron metabolism changes, such as the HFE protein, may influence cell metabolism and inflammatory processes in NAFLD, but the relationship between HFE variants, lipid abnormalities, and inflammation required evaluation.
Are HFE gene variants (rs1800562, rs1800730, and rs1799945) associated with dyslipidemia and the development of NAFLD?
Case-Control (n=124)
Are HFE gene variants (rs1800562, rs1800730, and rs1799945) associated with dyslipidemia and the development of NAFLD?
Specific HFE gene polymorphisms (rs1800730 and rs1799945) are associated with the development of NAFLD and an atherogenic lipid profile.
No change to NAFLD practice; leaves open HFE variants' role in disease development.
Non-alcoholic fatty liver disease (NAFLD) is one of the most common chronic liver diseases. It has a complex pathogenesis, including the interaction between metabolic factors and inflammation. Iron metabolism and hereditary predictors of its changes may have a complex effect on both changes in cell metabolism as a whole and on the enhancement of inflammatory processes. The HFE protein (human homeostatic iron regulator protein, or High Fe2+ protein) produced by the HFE gene, can act as such a predictor of NAFLD. Objective—To study the relationship between biochemical markers of lipid metabolism abnormalities and HFE gene variants and inflammation in patients with NAFLD. The study included 52 patients with NAFLD and 72 people in the control group. Lipid profile (triglycerides (TGs), total cholesterol, LDL, HDL, atherogenic index was also calculated) were measured in both groups. The incidence of HFE gene polymorphisms (rs1800562, rs1800730, and rs1799945) was evaluated using the PCR-RT with hydrolysis DNA-probes. The Kruskal–Wallis and Mann–Whitney tests were used for statistical data processing. The prevalence of HFE gene polymorphisms was assessed using the χ2 test with calculation of the odds ratio with a confidence interval (OR CI 95%). The AT and TT variants of rs1800730 polymorphism and the GG variant of rs1799945 polymorphism were more often detected in patients with NAFLD and are associated with its development. The genotype AA of rs1800730 polymorphism and the genotype CC of rs1799945 polymorphism were significantly more common among healthy volunteers. Variant AT is associated with increased levels of TG, total cholesterol, and HDL, while TT is associated with an increase in the atherogenic index, as well as an increase in the concentration of TG and total cholesterol in patients with NAFLD. The GG genotype is associated with high cholesterol and an increase in the atherogenic index in patients with NAFLD. The incidence of minor variants of the HFE gene is indicated in the development of NAFLD. The rs1800730 and rs1799945 polymorphisms are associated with dyslipidemia.
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Смирнова et al. (2026) conducted a case-control in Non-alcoholic fatty liver disease (NAFLD) (n=124). HFE gene variants (rs1800562, rs1800730, and rs1799945) vs. Healthy controls / Wild-type genotypes was evaluated on Association of HFE gene variants with NAFLD and lipid metabolism abnormalities. The AT and TT variants of rs1800730 and the GG variant of rs1799945 were more frequently detected in patients with NAFLD and were associated with dyslipidemia.
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