VDR Gene Polymorphisms (BsmI, FokI, TaqI, ApaI) in Total Hip Arthroplasty Outcome Patients

Abstract

A total hip arthroplasty (THA) can improve quality of life, but loosening of the hip prosthesis is a complex problem in which vitamin D may also play a role. The Vitamin D Receptor (VDR) is involved in the response of cells to the action of vitamin D, and its genetic variability raises the question of whether individual differences could influence the risk of prosthesis loosening. The aim of this study was to investigate the relationship between VDR single nucleotide polymorphisms (SNPs) (ApaI, BsmI, FokI and TaqI) and the serum VDR and 25(OH)D levels in three groups of patients: (1) arthroscopy patients after THA without loosening of the prosthesis (CA-Control Arthroplasty), (2) patients after THA with loosened hip prostheses (L-Loosening) and (3) the control group (C-Control). Our results suggest that the genotypes tt of TaqI, BB of BsmI, and FF of FokI may influence the VDR effect in patients with loosened protheses. Our results showed that the ACAC haplotype (AtBF) was over two times more frequent in the L group than in CA + C: OR =2.35 [95% CI 1.44-3.83; p = 0.001]. There was no significant correlation between the VDR and serum 25(OH)D levels, but there were differences between studied groups.

Keywords: VDR; arthroscopy; loosening of hip prothesis; vitamin D; vitamin D receptor.

Figure 1

Metabolic pathway of vitamin D and the role of VDR (Vitamin D Receptor) in signaling based on Płomiński et al. (2022), Slominski A.T. (2024), Holick (2024) and Slominski R.M. (2021) [16,19,20,21].

Figure 2

Linkage disequilibrium between Apa, Taq, Bsm and FokI in all studied groups: (a) L vs. CA + C, (b) L vs. CA. The more intense color, the higher LD result is.

Figure 3

Comparison of 25(OH)D serum concentration in all studied groups with difference analysis, where letter b presents the groups that do not differ from each other and letter a differs from groups marked with letter b. The figure also presents vitamin D concentrations on a scale: red—deficiency, orange—insufficiency, green—sufficiency. Whiskers of the boxplot show the min to max range of concentrations, while a solid line indicates the median.

Figure 4

Comparison of VDR (Vitamin D Receptor) serum concentration in all studied groups with difference analysis, where letter a presents groups that do not differ from each other, while letter b differs from groups marked with letter a. Whiskers of the boxplot show the min to max range of concentrations, while a solid line indicates the median.

Figure 5

Heatmap of Spearman’s rank correlation with p-values (red) marked only for significant results.

Figure 6

Electrophoregram of Apa I (a), Taq I (b), Bsm I (c) and Fok I (d) genotyping. Apa: Path 1: AA (630 bp), Path 2 and 4: Aa (630, 483 bp), Path 3: aa (484, 146 bp)–fragment of 146 bp not shown, Path 4: molecular marker. Taq: Path 1: molecular marker, Path 2: TT (425, 205 bp), Path 3: Tt (435, 225, 205, 200 bp), Path 4: tt (225, 205, 200 bp). Bsm: Path 1: molecular marker, Path 2: BB (348 bp), Path 3: Bb (348, 243, 105 bp), Path 4: bb (243, 105 bp). Fok: Path 1: FF (267 bp), Path 2: ff (198, 69 bp), Path 3: Ff (267, 198, 69 bp)–fragment of 69 bp not shown, Path 4: molecular marker.