SLC11A1 and VDR gene variants and susceptibility to tuberculosis and disease progression in East India.

SETTING

Despite efforts at disease control, the incidence of tuberculosis (TB) remains high in India.

OBJECTIVE

To assess the role of VDR and SLC11A1 gene polymorphisms in the development of pulmonary TB (PTB) in an ethnically matched population of India.

DESIGN

In this case-control study, five variants (INT4/ rs3731865, 823C/T/rs17221959, D543N/rs17235409, 577G/A/rs1059823 and TGTG deletion-3UTR/rs172 35416) of SLC11A1 and three (BsmI/rs1544410, FokI/ rs10735810 and TaqI/rs731236) of the VDR gene were studied in 101 TB patients and 225 controls from Kolkata, India.

RESULTS

Statistically significant associations were ob- served for INT4: GC (OR 4.54 95%CI 2.38-8.68), CC (OR 35.20, 95%CI 9.15-135.38), 3 UTR (TGTG+ /-, OR 2.96, 95%CI 1.52-5.78), TGTG- /- (OR 3.52, 95%CI 1.62-7.61) and 823C/T (CT, OR 0.31, 95%CI 0.17-0.58) variants of the SLC11A1 gene. Significantly different genotype frequencies between different groups of patients elucidated the role of the INT4 (P = 0.031), 577G/A (P = 0.033) and FokI (P = 0.02) variants in disease progression and the development of cavitary disease. Five haplotypes were also identified as having a significant association with PTB.

CONCLUSION

This study, the first to include evidence on 577G/A and INT4, reports a significant association between SLC11A1 gene variants and PTB with respect to susceptibility and subsequent disease progression in East India.