Human genetic factors in tuberculosis: an update

Trop Med Int Health. 2017 Sep;22(9):1063-1071. doi: 10.1111/tmi.12923. Epub 2017 Jul 19.


Tuberculosis (TB) is a major threat to human health, especially in many developing countries. Human genetic variability has been recognised to be of great relevance in host responses to Mycobacterium tuberculosis infection and in regulating both the establishment and the progression of the disease. An increasing number of candidate gene and genome-wide association studies (GWAS) have focused on human genetic factors contributing to susceptibility or resistance to TB. To update previous reviews on human genetic factors in TB we searched the MEDLINE database and PubMed for articles from 1 January 2014 through 31 March 2017 and reviewed the role of human genetic variability in TB. Search terms applied in various combinations were 'tuberculosis', 'human genetics', 'candidate gene studies', 'genome-wide association studies' and 'Mycobacterium tuberculosis'. Articles in English retrieved and relevant references cited in these articles were reviewed. Abstracts and reports from meetings were also included. This review provides a recent summary of associations of polymorphisms of human genes with susceptibility/resistance to TB.

Keywords: candidate gene studies; estudios de asociación de genomas completos; estudios de genes candidatos; genome-wide association studies; genética humana; génétique humaine; human genetics; tuberculose; tuberculosis; études d'association du génome entier; études de gènes candidats.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Mycobacterium tuberculosis*
  • Polymorphism, Genetic*
  • Tuberculosis / genetics*
  • Tuberculosis / microbiology