Fig 1: Association between VDR SNPs and expression of genes downstream of the vitamin D-VDR pathway. The mRNA levels were quantified by qPCR and the values are expressed relative to the reference gene β-actin. (A) Relative mRNA Gpx gene expression in association with ApaI SNP (AA vs. AC/CC) in controls and HCV+ and cirrhotic patients. (B) Relative mRNA Gpx gene expression in association with BsmI SNP (AA vs. AG/GG) in controls and HCV+ and cirrhotic patients. (C) Relative mRNA PMCA gene expression in association with BsmI SNP (AA vs. AG/GG) in controls and HCV+ and cirrhotic patients. (D) Relative mRNA JMJD1A gene expression in association with BsmI SNP (AA vs. AG/GG) in controls and HCV+ and cirrhotic patients. (E) Relative mRNA PMCA gene expression in association with TaqI SNP (CC vs. CT/TT) in controls and HCV+ and cirrhotic patients. (F) Relative mRNA LSD2 gene expression in association with TaqI SNP (CC vs. CT/TT) in controls and HCV+ and cirrhotic patients. (G) Relative mRNA p27 gene expression in association with FokI SNP (CC vs. CT/TT) in controls and HCV+ and cirrhotic patients. Results are expressed as median with error bars (95% CI) and individual data points. Mann–Whitney U test was used to compare values between groups. p < 0.05: statistically significant difference.
Fig 2: Association of VDR SNPs with liver stiffness in HCV+ and cirrhotic patients. (A) Median liver stiffness (kPa) associated with ApaI SNP (AA vs. AC/CC). (B) Median liver stiffness (kPa) associated with BsmI SNP (AA vs. AG/GG). (C) Median liver stiffness (kPa) associated with TaqI SNP (CC vs. CT/TT). (D) Median liver stiffness (kPa) associated with FokI SNP (CC vs. CT/TT). Results are expressed as median with error bars (95% CI) and individual data points. Mann–Whitney U test was used to compare values between groups. p < 0.05: statistically significant difference.
Fig 3: Association of VDR SNPs with VDR plasma levels in patients and controls. (A) VDR plasma levels in controls, HCV+ patients, and cirrhotic patients in association with ApaI SNP (AA vs. AC/CC). (B) VDR plasma levels in controls, HCV+ patients, and cirrhotic patients in association with the BsmI SNP (AA vs. AG/GG). (C) VDR plasma levels in controls, HCV+ patients, and cirrhotic patients in association with TaqI SNP (CC vs. CT/TT). (D) VDR plasma levels in controls, HCV+ patients, and cirrhotic patients in association with the FokI SNP (CC vs. CT/TT). Results are expressed as median with error bars (95% CI) and individual data points. Mann–Whitney U test was used to compare values between groups. p < 0.05: statistically significant difference.
Fig 4: (A) Rmsd values for VDR vitamin D-binding domain backbone atoms (C, O, N, and Cα) during MD simulations for the wt (black) and fokI (red) variants in (A) (top) the apo form and (bottom) in complex with vitamin D. (B) Overlay of the representative clusters for the VDR vitamin D-binding domain for the wt (black) and fokI (red) isoforms. (C) Atomic fluctuations (root mean square fluctuations—rmsf) of protein residues in the apo form for wt (black) and the fokI (red) variant. (D) Rmsd values across the MD simulation for vitamin D in the binding cleft in complex with the wt (black) and the fokI (red) isoforms.
Fig 5: (A) CD3+VDR+ and CD14+VDR+ cells in peripheral blood. Results of flow cytometric analysis of all patients and controls. (B) Plasma VDR levels of all patients and controls. Results are expressed as median with error bars (95% CI) and individual data points. Kruskal–Wallis H and Mann–Whitney U tests adjusted for multiple comparisons were used to compare values between groups. p < 0.05: statistically significant difference.
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