Genetics of tuberculosis

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Tuberculosis is a disease caused by the bacterium Mycobacterium tuberculosis. The nature of the host-pathogen interaction between humans and M. tuberculosis is considered to have a genetic component. A group of rare disorders called Mendelian Susceptibility to Mycobacterial Diseases (MSMD) was observed in a subset of individuals with a genetic defect that results in increased susceptibility to Mycobacterial infection.[citation needed]

## Genome-wide association studies

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Early case and twin studies have indicated that genetic component are important in host susceptibility to M. Tuberculosis. Recent Genome-wide association studies (GWAS) have identified three genetic risk loci, including at positions 3q23, 11p13 and 18q11.[1][2] As is common in GWAS, the variants discovered have moderate effect sizes - but have shown that TB has high polygenic heritability.[3] These studies suggest that while only a handful of alleles have been found, larger well designed studies may find more.[citation needed]

## References

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1. ^ Thye, T; Owusu-Dabo, E; Vannberg, FO; van Crevel, R; Curtis, J; Sahiratmadja, E; Balabanova, Y; Ehmen, C; Muntau, B; Ruge, G; Sievertsen, J; Gyapong, J; Nikolayevskyy, V; Hill, PC; Sirugo, G; Drobniewski, F; van de Vosse, E; Newport, M; Alisjahbana, B; Nejentsev, S; Ottenhoff, TH; Hill, AV; Horstmann, RD; Meyer, CG (5 February 2012). "Common variants at 11p13 are associated with susceptibility to tuberculosis". Nature Genetics. 44 (3): 257–9\. doi:10.1038/ng.1080. PMC 3427019. PMID 22306650.
2. ^ Thye, T; Vannberg, FO; Wong, SH; Owusu-Dabo, E; Osei, I; Gyapong, J; Sirugo, G; Sisay-Joof, F; Enimil, A; Chinbuah, MA; Floyd, S; Warndorff, DK; Sichali, L; Malema, S; Crampin, AC; Ngwira, B; Teo, YY; Small, K; Rockett, K; Kwiatkowski, D; Fine, PE; Hill, PC; Newport, M; Lienhardt, C; Adegbola, RA; Corrah, T; Ziegler, A; African TB Genetics, Consortium; Wellcome Trust Case Control, Consortium; Morris, AP; Meyer, CG; Horstmann, RD; Hill, AV (September 2010). "Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2". Nature Genetics. 42 (9): 739–41\. doi:10.1038/ng.639. PMC 4975513. PMID 20694014.
3. ^ Luo, Y; Suliman, S; Asgari, S; Amariuta, T; Baglaenko, Y; Martínez-Bonet, M; Ishigaki, K; Gutierrez-Arcelus, M; Calderon, R; Lecca, L; León, SR; Jimenez, J; Yataco, R; Contreras, C; Galea, JT; Becerra, M; Nejentsev, S; Nigrovic, PA; Moody, DB; Murray, MB; Raychaudhuri, S (21 August 2019). "Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians". Nature Communications. 10 (1): 3765. Bibcode:2019NatCo..10.3765L. doi:10.1038/s41467-019-11664-1. PMC 6704092. PMID 31434886.

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