SETTING: Despite efforts at disease control, the inci- dence 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.
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Document Type: Research Article
National DNA Analysis Center, Central Forensic Science Laboratory, Kolkata, India; The Sol Sherry Thrombosis Research Center, Philadelphia, Pennsylvania, USA; Biostatistics Consulting Center, Temple University School of Medicine, Philadelphia, Pennsylvania, USA
Directorate of Forensic Science, MHA, Government of India, New Delhi, India
National DNA Analysis Center, Central Forensic Science Laboratory, Kolkata, India
Publication date: November 1, 2011
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