# Evaluating Associations Between Ankylosing Spondylitis, Torque Teno Virus and Polymorphisms in Interleukin 6 and Vitamin D Receptor Genes

## TL;DR

This study explores how a virus and genetic variations might be linked to the risk of developing ankylosing spondylitis, a type of arthritis.

## Contribution

The study identifies potential associations between Torque teno virus and specific genetic polymorphisms with ankylosing spondylitis.

## Key findings

- TTV presence is significantly associated with ankylosing spondylitis (p = 0.035).
- Certain VDR gene polymorphisms show significant associations with AS in female subgroups.
- Specific VDR haplotypes may increase or decrease the risk of developing AS.

## Abstract

The etiology of ankylosing spondylitis (AS) is complex and not yet fully understood. Interleukin‐6 (IL‐6), vitamin D and the vitamin D receptor (VDR) play an important role in modulating immune response, and Torque teno virus is considered a marker of immune status.

This case–control study aimed to investigate the predisposition to AS. A total of 85 patients with AS and 100 clinically healthy individuals were included. VDR polymorphisms (rs2228570, rs1544410, rs7975232, rs731236) were genotyped using the PCR‐RFLP technique, while for the IL‐6 ‐174 G>C (rs1800795) polymorphism the tetra‐primer ARMS‐PCR technique was used. The presence of TTV was detected using the hemi‐nested PCR technique.

Our findings indicate a statistically significant association between TTV and AS (p = 0.035). C allele of both rs1800795 polymorphism in main groups (p = 0.027) and rs731236 polymorphism in women subgroups (p = 0.036) may be linked to an increased susceptibility to AS. However, none of these associations reach statistical significance after Bonferroni correction. Furthermore, within female subgroups, a significant association was found between the T allele of rs1544410 polymorphism and AS (p = 0.000038, corrected p = 0.00076). A significant association was also observed between the TT genotype of rs2228570 polymorphism, TTV and AS (p = 0.029). Haplotype analysis revealed that certain VDR haplotypes may confer either a protective effect against AS or an increased risk of developing the condition. Notably, rs1544410 polymorphism or a linked polymorphism may influence AS susceptibility. In conclusion, our data suggest that TTV and VDR polymorphisms may be associated with an increased risk of developing AS, indicating that these markers could potentially be used in the future for earlier diagnosis and more targeted treatment of the disease.