Polymorphism in the NRAMP1 gene as a risk factor for pulmonary tuberculosis -A case control study

Authors : Debosmita Paul, Lahari Saikia, Wasifa Parween

DOI : 10.18231/j.ijmr.2019.058

Volume : 6

Issue : 3

Year : 2019

Page No : 266-271

Objective: Polymorphism in this gene was determined in pulmonary tuberculosis patients in order to
explore this association.
Design: We assigned 34 patients with active pulmonary tuberculosis and 30 subjects with latent
tuberculosis to the infected group, and 30 healthy household cases to control group. Three polymorphisms
were studied, a non-conservative single-base substitution at codon 543(D543N), a single nucleotide change
in intron 4(469 14G/C, INT4) and TGTG deletion in the 3 ’ untranslated region (1729 55del4, 3 ’ UTR).
Results: No polymorphism was detected in the later two regions. G/A variant was more commonly found
in the uninfected group with G/G variant in the infected group. Among the infected group, the G/A variant
was significantly associated (44.11%) with active pulmonary tuberculosis. Although homozygous variants
(A/A) were also associated (20.58%) with active disease, the prevalence of heterozygous variant found to
have a risk eleven folds higher than the later (OR= 11.5).
Conclusion: The heterozygous genotype seemed to affect the burden of M. tuberculosis, and in particular
the clinical presentation of the disease.
Setting: Defective production of protein Nramp1, encoded by gene NRAMP1 disturbs the normal innate
host resistance.

Keywords: Nramp1, Pulmonary tuberculosis, Polymorphism RFLP.


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