Association of vitamin D receptor polymorphism (Rs2228570, rs1544410, rs7975232, and rs731236) and macrophage migration inhibitory factor-173 G/C (rs755622) with the susceptibility of active pulmonary tuberculosis in Makassar, Indonesia

Abstract

BACKGROUND: The study of Vitamin D Receptor (VDR) and Macrophage Migration Inhibitory Factor (MIF) polymorphisms associated with active pulmonary tuberculosis (TB) (ATB) presents varying results. AIM: This study aimed to investigate the association between VDR rs2228570, rs1544410, rs7975232, and rs731236 and MIF-173 G/C (rs755622) single-nucleotide polymorphism (SNP), with susceptibility of developing ATB, and positivity of interferon-gamma release assay (IGRA) results (in household contact). MATERIALS AND METHODS: This study involved 83 ATB and 73 household contacts in Makassar. We checked IGRA based on ELISA in household contacts by using QuantiFERON-TB Gold Plus test, and we found that 61.64% (n = 45) of household contacts had positive IGRA. Polymorphism examination was carried out by Sanger sequencing. RESULTS: VDR rs2228570 T/T and T/C-T/T were significantly associated with a higher risk of active TB. VDR rs7975232 G/G genotype was associated with an increased risk of developing active TB compared to T/T-T/G. Haplotype analysis of VDR rs2228570, rs1544410, rs7975232, and rs731236 and combination with MIF rs755622 demonstrated that TGGTG was observed to have a higher risk of TB. CONCLUSIONS: The combination of VDR and MIF variants may contribute to the susceptibility of active tuberculosis disease.