VDR Polymorphic Variants Are Related to Improvements in CRP and Disease Activity in Patients with Axial Spondyloarthritis That Undergo Anti-TNF Treatment

Abstract

Vitamin D deficiency is related with susceptibility or progression of various autoimmune diseases. The aim of the study was to assess potential relations between single nucleotide polymorphisms (SNPs) in the vitamin D receptor-coding gene (VDR): rs1544410 (BsmI), rs2228570 (FokI), rs731236 (TaqI), rs7975232 (ApaI), and disease activity in patients with axial spondyloarthritis (axSpA) undergoing anti-TNF therapy. The VDR rs731236 CT genotype was statistically more common among female patients (p = 0.027). An improvement of CRP equal to or higher than 50% after 3 months of anti-TNF therapy was observed for rs2228570 T allele (p = 0.002). After 6 months, CRP improvement equal to or higher than 75% was related to presence of the rs1544410 AA genotype (p = 0.027) and the rs731236 CC homozygotes (p = 0.047). Baseline BASDAI values were lower in individuals with the rs2228570 TT genotype (p = 0.036) and rs7975232 C allele (p = 0.029). After 6 months of treatment, lower BASDAI values were observed in AC heterozygotes (p = 0.005). The same AC genotype was more frequently detected in patients with remission (BASDAI ≤ 2) (p = 0.001) and in those achieving BASDAI improvement equal to or higher than 75% (p = 0.006). In conclusion, VDR SNPs were found to relate to CRP and BASDAI values at different time points of anti-TNF therapy.

The rs11568820 Variant in the Promoter Region of Vitamin D Receptor Gene Is Associated with Clinical Remission in Rheumatoid Arthritis Patients Receiving Tumor Necrosis Factor Inhibitors

“…It is now known that polymorphisms of the VDR gene can lead to functional changes modulating the regulatory effects of vitamin D, as well as in the immune response. Indeed, associations between clinical response or remission during anti-TNFα therapy and VDR polymorphisms has been reported [15,16], but to our knowledge, this is the first study that has investigated the possible involvement of rs11568820 SNP in TNF-i treatment response.…”

“…Cusato et al described an association between VDR rs1544410 SNP and clinical remission at three months of TNF-i therapy in patients with inflammatory bowel disease (IBD) [15]. A study in patients with axial spondyloarthritis showed different improvements in C-reactive protein (CRP) and disease activity scores after 3 and 6 months of TNF-i therapy, depending on the genotype of the VDR polymorphisms rs2228570, rs731236 and rs7975232 [16].…”

The impact of genetic variants related to vitamin D and autoimmunity: A systematic review

“…Moreover, it reported associations of this genotype with clinical phenotypes of SLE and pSS. Lastly, the GG genotype of rs731236 was associated with a lower RA susceptibility Axial Spondyloarthritis Bugaj B, 2022[ 65 ] Poland Case-Control 106/122 42,7 (±12.9)/NA PCR-RFLP No VDR Fok I (rs2228570), Bsm I (rs1544410), Apa I (rs7975232) and Taq I (rs731236) No associations were identified between any of the studied polymorphisms and disease susceptibility. The study found higher prevalence for the rs731236 CT genotype among female patients compared to males.…”