Vitamin D receptor ApaI (rs7975232), BsmI (rs1544410), Fok1 (rs2228570), and TaqI (rs731236) gene polymorphisms and susceptibility to pulmonary tuberculosis in an Iranian population: A systematic review and meta-analysis.
Both vitamin D deficiency and genetic variants in the vitamin D receptor (VDR) have been reported to associate with delayed response to intensive-phase therapy for pulmonary tuberculosis.
Genomic DNA from 95 patients with pulmonary tuberculosis (PTB) and 117 ethnically matched, healthy controls were typed for HLA-DRB1, DRB3, DRB4, DRB5, DQB1, and VDR polymorphisms FokI, BsmI, ApaI, and TaqI using polymerase chain reaction-sequence specific primers (PCR-SSP).
Heterozygous (TG) and mutants (GG) forms of Apa1 VDR SNPs were significantly associated with TBM compared to controls [TG; p = 0.001, OR = 2.86 (1.58-5.17), GG; p = 0.002, OR = 5.11 (1.80-14.54)] and pulmonary tuberculosis.
In the present study, the influence of non-MHC genes such as mannose binding protein (MBP), vitamin D receptor (VDR) and interleukin-1 receptor antagonist (IL-1RA) gene polymorphisms on lymphocyte response to Mycobacterium tuberculosis culture filtrate antigen (10 micrograms/ml) was studied in 44 patients with active pulmonary TB and the family contacts (35) and in 32 normal healthy subjects.
Our findings support previous data showing that VDR SNPs modulate the risk for TB in West Africans and suggest that variation within DC-SIGN and PTX3 also affect the disease outcome.
Our findings support previous data showing that VDR SNPs modulate the risk for TB in West Africans and suggest that variation within DC-SIGN and PTX3 also affect the disease outcome.
Recent studies have implicated variation in the vitamin D receptor (VDR) gene in susceptibility to several diseases, including osteoporosis and pulmonary tuberculosis.
Regulatory role of vitamin D receptor gene variants of Bsm I, Apa I, Taq I, and Fok I polymorphisms on macrophage phagocytosis and lymphoproliferative response to mycobacterium tuberculosis antigen in pulmonary tuberculosis.
Relative quantification of mRNA using real-time PCR revealed increased VDR mRNA expression in live M. tuberculosis-stimulated culture in PTB patients (p < 0.01) than normal healthy subjects.
Since human genetic variation is an important determinant in the outcome of infection with M. tuberculosis, we typed polymorphisms in the innate immune molecules, such as natural-resistance-associated macrophage protein 1 (NRAMP1), Vitamin D receptor (VDR), Tumor necrosis factor alpha (TNF-α), intercellular adhesion molecule1 (ICAM-1), Toll-like receptor 2 (TLR2) and Toll-like receptor 4 (TLR4) in a case-control study of pulmonary tuberculosis in Iranian population.
The Vitamin D receptor (VDR) gene is a good candidate, because it influences immune response, and associations between TaqI and FokI polymorphisms in the VDR gene and pulmonary TB risk have been found.
The heterozygous and mutant variants of VDR ApaI gene were significantly more common in patients with spinal tuberculosis in comparison with patients with pulmonary tuberculosis (P < 0.001; OR 2.90 [1.65-5.10]) and controls (P < 0.001; OR 6.56 [3.41-12.61]).
The influence of FokI, BsmI, ApaI and TaqI variants of VDR gene on 1, 25(OH)(2) D(3) modulated granzyme A expression of cytotoxic lymphocytes induced by culture filtrate antigen (CFA) of Mycobacterium tuberculosis was studied in 40 pulmonary tuberculosis (PTB) patients and 49 normal healthy subjects (NHS) by flow cytometry.
The present study suggested that the genotype tt of vitamin D receptor gene may be associated with susceptibility to pulmonary TB in female patients, and the genotype TT may be associated with resistance in female contacts.