Association of Selective VDR Gene Polymorphisms with Diffuse Large B-Cell Lymphoma (DLBCL) in a South Indian...

The prevalence of Diffuse Large B-Cell Lymphoma (DLBCL) in India ranges from 34% to 60%. The prognosis for DLBCL can vary widely depending on various factors, including vitamin D deficiency. Research suggests that low vitamin D levels may be linked to poor overall survival (OS) and progression-free survival (PFS) in DLBCL patients. Additionally, polymorphisms in the vitamin D receptor (VDR) gene, specifically the BsmI and TaqI alleles, have been significantly associated with disease prognosis. However, the association of VDR polymorphisms and vitamin D deficiency with DLBCL is yet to be explored. Therefore, this study aims to evaluate the association of VDR gene polymorphisms (BsmI, TaqI, FokI, ApaI) in DLBCL patients.

In this cross-sectional study, 50 treatment-naive DLBCL patients from southern part of India were included. 100 samples of unrelated apparently healthy controls were used as comparator. Demographic characteristics of DLBCL patients were recorded and SNPs in VDR (real time polymerase chain reaction) were assessed. All analyses were performed using SPSS (V26). P<0.05 was considered statistically significant.

The frequencies of mutant genotypes [TT- BsmI, AG- TaqI and AG- FokI] were significantly associated with a reduced risk of DLBCL, decreasing the risk DLBCL by 71% (OR=0.29, 95% CI= 0.105 to 0.807), 72% (OR=0.28, 95% CI= 0.133 to 0.608) and 70% (OR=0.3, 95% CI= 0.07 to 1.225). Additionally, comparison with other Indian studies and ethnic groups revealed significant distinctions in VDR genotypes. Further, the haplotype analysis of SNPs in the VDR gene revealed significant association of C-A-G-T haplotype (rs731236-rs7975232-rs1544410-rs2228570) with the disease phenotype.

The study shows significant association of BsmI, TaqI, and FokI VDR SNPs with DLBCL.