Two of this page's three findings go further than a statistical association — one traced to impaired immune-cell movement, the other confirmed by breeding mice that lack the gene and watching them get sicker.
Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis, and remains a leading global public health problem. Host genetics is known to shape who develops active disease after exposure. This page holds 3 variants from three studies, two of which went well beyond a bare statistical finding to test an actual mechanism.
A 2015 study of 5,530 people with pulmonary TB and 5,607 controls (expanded to 15,087 total with a follow-up cohort) found rs4733781 in ASAP1 associated with TB susceptibility. The study did not stop at the association: dendritic cells — immune cells that present fragments of a pathogen to trigger the rest of the immune response — normally express ASAP1 at high levels, and that expression drops after infection with M. tuberculosis. A closely related variant tracked with how much that expression fell, and dendritic cells engineered to lack ASAP1 showed directly impaired ability to degrade surrounding tissue matrix and migrate. The proposed mechanism: genetically excessive ASAP1 reduction after infection may leave dendritic cells unable to move to where they are needed, weakening the immune response.
A 2018 study specifically of a Han Chinese population — 2,949 patients and 5,090 controls — found rs6114027 in TGM6 associated with TB risk. The TB risk allele tracked with reduced TGM6 activity in patients' blood cells and with more severe pulmonary disease. The study went a step further still: mice genetically engineered to lack the Tgm6 gene entirely were directly tested against M. tuberculosis infection and found more susceptible — one of the few findings on this site backed by an animal experiment, not statistics alone.
A 2017 study ran genome-wide association scans for 23 common infections together across more than 200,000 people of European ancestry — the same study this site's shingles page already cites. A positive tuberculosis test result was one of the 23 traits studied, contributing this page's rs148844907, in C6orf47, within the broader HLA region the study's own fine-mapping analysis concentrated on.
2025-05-01 · New England Journal of Medicine 2025, PMID:40334156
A large trial finds BCG revaccination did not protect adolescents against TB infection
Verified directly against the paper's own abstract via Europe PMC (PMID:40334156, published 1 May 2025). A phase 2b randomized, placebo-controlled trial of BCG revaccination in 1,836 QuantiFERON-negative, HIV-negative adolescents (918 vaccine, 917 placebo) found no protective benefit against sustained M. tuberculosis infection after 30 months: 62 of 871 vaccine recipients versus 59 of 849 placebo recipients had sustained test conversion (hazard ratio 1.04, 95% CI 0.73-1.48; vaccine efficacy point estimate -3.8%, 95% CI -48.3 to 27.4). Vaccine-group adverse events were mostly mild injection-site reactions. A real, dated, honest null result from a well-powered trial -- not every BCG revaccination study finds a benefit, and this site reports a genuine zero the same way it reports a genuine finding.
Tuberculosis is diagnosed by skin or blood testing for infection and by sputum testing, imaging and culture for active disease — not by genotype. None of the 3 variants on this page are used by any guideline to diagnose TB or select treatment.
The loci described above come from population-level genetic studies of thousands of people, two with real mechanistic and animal-model evidence behind them. They point at which immune processes (dendritic cell migration, TGM6-dependent responses) shape susceptibility at a population level — they do not predict whether any one exposed person will develop active tuberculosis.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Tuberculosis comes down to these specific, well-studied positions — not a diagnosis.
C10orf90 · rs17155120
See detailed info →The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 4 of 4 linked studies with a resolved discovery ancestry.
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Tuberculosis. MyGeneLog™. https://www.mygenelog.com/conditions/tuberculosis
An infectious disease caused by Mycobacterium tuberculosis, and a leading global public health problem. Host genetics shapes who develops active disease after exposure.
Two findings go beyond statistics alone: an ASAP1 variant tied to impaired dendritic-cell movement after infection, and a TGM6 variant confirmed by breeding mice that lack the gene and finding them more susceptible to infection when directly tested.
One of this page's three variants comes from the same 2017 study of 23 common infections together that this site's shingles page also cites -- tuberculosis was one of the 23 traits studied in that same coordinated effort.
No. Tuberculosis is diagnosed by skin/blood testing and, for active disease, sputum testing and imaging. These are population-level genetic findings, not a way to predict an individual case.
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