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


METHODS
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.


CONCLUSIONS
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.
National DNA Analysis Center, Central Forensic Science Laboratory, Kolkata, India. anamikas@temple.edu
A
A
Singh
J P
JP
Gaughan
V K
VK
Kashyap
D020413:3' Untranslated Regions; D000328:Adult; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007194:India / Q000453:epidemiology; D007438:Introns; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008297:Male; D016017:Odds Ratio; D010641:Phenotype; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D014397:Tuberculosis, Pulmonary / Q000175:diagnosis* / Q000208:ethnology; D044465:White People / Q000235:genetics; D000099173:Natural Resistance-associated Macrophage Protein 1
D020413:3' Untranslated Regions; D027682:Cation Transport Proteins; D018167:Receptors, Calcitriol; D000099173:Natural Resistance-associated Macrophage Protein 1