ArticleAmerican journal of human genetics2013
Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it.
- No Significant Effect of ASAP1 Gene Variants on the Susceptibility to Tuberculosis in Chinese Population.Medicine · 2016Pooled it
- Family-based genome-wide association study of leprosy in Vietnam.PLoS pathogens · 2020Trial
- A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure.Genome medicine · 2025Article
- Article
- Association of TP53 gene polymorphisms with the risk of acute lymphoblastic leukemia in Moroccan children.Molecular biology reports · 2022Article
- Offense and Defense in Granulomatous Inflammation Disease.Frontiers in cellular and infection microbiology · 2022Review
- The monogenic basis of human tuberculosis.Human genetics · 2020Review
- Human genetics of Buruli ulcer.Human genetics · 2020Review
- Evaluation of the Host Genetic Effects of Tuberculosis-Associated Variants Among Patients With Type 1 and Type 2 Diabetes Mellitus.Open forum infectious diseases · 2020Article
- Tox4 modulates cell fate reprogramming.Journal of cell science · 2019Article
- Tuberculosis susceptibility and protection in children.The Lancet. Infectious diseases · 2019Review
- The Interplay of Human andFrontiers in genetics · 2019Review
- Review
- Human genetics of mycobacterial disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2018Review
- Genetics of human susceptibility to active and latent tuberculosis: present knowledge and future perspectives.The Lancet. Infectious diseases · 2018Review
- New variant identified in major susceptibility locus to tuberculosis on chromosomal region 8q12-q13 in Moroccan population: a case control study.BMC infectious diseases · 2017Article
- Human Genomics ofCurrent genetic medicine reports · 2017Article
- Genetics and genomic medicine in Morocco: the present hope can make the future bright.Molecular genetics & genomic medicine · 2016Article
- Tuberculosis Susceptibility and Vaccine Protection Are Independently Controlled by Host Genotype.mBio · 2016Article
- Influence of the polymorphism of the DUSP14 gene on the expression of immune-related genes and development of pulmonary tuberculosis.Genes and immunity · 2016Article
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23 authors.
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Abstract
Only a small fraction of individuals infected with Mycobacterium tuberculosis develop clinical tuberculosis (TB) in their lifetime. Genetic epidemiological evidence suggests a genetic determinism of pulmonary TB (PTB), but the molecular basis of genetic predisposition to PTB remains largely unknown. We used a positional-cloning approach to carry out ultrafine linkage-disequilibrium mapping of a previously identified susceptibility locus in chromosomal region 8q12-13 by genotyping 3,216 SNPs in a family-based Moroccan sample including 286 offspring with PTB. We observed 44 PTB-associated SNPs (p < 0.01), which were genotyped in an independent set of 317 cases and 650 controls from Morocco. A single signal, consisting of two correlated SNPs close to TOX, rs1568952 and rs2726600 (combined p = 1.1 × 10(-5) and 9.2 × 10(-5), respectively), was replicated. Stronger evidence of association was found in individuals who developed PTB before the age of 25 years (combined p for rs1568952 = 4.4 × 10(-8); odds ratio of PTB for AA versus AG/GG = 3.09 [1.99-4.78]). The association with rs2726600 (p = 0.04) was subsequently replicated in PTB-affected subjects under 25 years in a study of 243 nuclear families from Madagascar. Stronger evidence of replication in Madagascar was obtained for additional SNPs in strong linkage disequilibrium with the two initial SNPs (p = 0.003 for rs2726597), further confirming the signal. We thus identified around rs1568952 and rs2726600 a cluster of SNPs strongly associated with early-onset PTB in Morocco and Madagascar. SNP rs2726600 is located in a transcription-factor binding site in the 3' region of TOX, and further functional explorations will focus on CD4 T lymphocytes.
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