Abstract
Tuberculosis (TB) is an infectious disease caused by fastidious pathogen Mycobacterium tuberculosis. TB has emerged as one of the major causes of mortality in the developing world. Role of host genetic factors that modulate disease susceptibility have not been studied widely. Recent studies have reported few genetic loci that provide impetus to this area of research. The availability of tools has enabled genome-wide scans for disease susceptibility loci associated with infectious diseases. Till now, information on human genetic variations and their associated genes that modulate TB susceptibility have not been systematically compiled. In this work, we have created a resource: HGV&TB, which hosts genetic variations reported to be associated with TB susceptibility in humans. It currently houses information on 307 variations in 98 genes. In total, 101 of these variations are exonic, whereas 78 fall in intronic regions. We also analysed the pathogenicity of the genetic variations, their phenotypic consequences and ethnic origin. Using various computational analyses, 30 variations of the 101 exonic variations were predicted to be pathogenic. The resource is freely available at http://genome.igib.res.in/hgvtb/index.html. Using integrative analysis, we have shown that the disease associated variants are selectively enriched in the immune signalling pathways which are crucial in the pathophysiology of TB. Database URL: http://genome.igib.res.in/hgvtb/index.html
Highlights
Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis (Mtb), an air-borne, nosocomial, gram positive and acid fast bacterium [1]
Majority of people infected with M. tuberculosis have latent infection with no evidence of clinical symptoms, but 10% of infected individuals develop clinical symptoms [1]
HGV&TB database harbours data for human genetic variations associated with susceptibility to different forms of TB, such as general TB, pulmonary, extra-pulmonary, pleural, miliary, spinal, cavitary, paediatric, meningeal and HIV-associated various forms of TB
Summary
Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis (Mtb), an air-borne, nosocomial, gram positive and acid fast bacterium [1]. One-third of the world’s population is estimated to be infected with this pathogen [2]. The disease has emerged as one of the major causes of mortality and morbidity in the developing world [1, 3]. It has been estimated that 8.8 million new cases of TB have been reported and 1.1 million affected individuals died in 2010. Majority of people infected with M. tuberculosis have latent infection with no evidence of clinical symptoms, but 10% of infected individuals develop clinical symptoms [1]. The precise factors influencing the disease predisposition have not been well studied, several of them, such as pathogen virulence [4], host nutrition [5] and host genetic factors [6] have been implicated in causing the disease
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