ArticleAmerican journal of respiratory and critical care medicine2008
Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis.
Article in American journal of respiratory and critical care medicine, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- Meta-analysis on the associations of TLR2 gene polymorphisms with pulmonary tuberculosis susceptibility among Asian populations.PloS one · 2013Pooled it
- Isoleucyl-tRNA synthetase 1 mutation impairs pulmonary surfactant homeostasis by disrupting alveolar macrophage function.Respiratory research · 2026Article
- Cathepsin Z is a conserved susceptibility factor underlying tuberculosis severity.PLoS biology · 2025Article
- The 2SP Site Mutation in the Bovine Natural Resistance-Associated Macrophage 1 Promoter Exhibits Antituberculosis Potential.International journal of molecular sciences · 2025Article
- The immunogenetics of tuberculosis (TB) susceptibility.Immunogenetics · 2023Review
- Fulminant pulmonary tuberculosis in a previously healthy young woman from the Marshall Islands: Potential risk factors.Journal of clinical tuberculosis and other mycobacterial diseases · 2023Review
- Association of Toll-like Receptors 1, 2, 4, 6, 8, 9 and 10 Genes Polymorphisms and Susceptibility to Pulmonary Tuberculosis in Sudanese Patients.ImmunoTargets and therapy · 2023Article
- Capturing Genetic Diversity and Selection Signatures of the Endangered Kosovar Balusha Sheep Breed.Genes · 2022Article
- Host-pathogen genetic interactions underlie tuberculosis susceptibility in genetically diverse mice.eLife · 2022Article
- Macrophage migration inhibitory factor - 794 CATTInfection · 2021Article
- Genetics and evolution of tuberculosis pathogenesis: New perspectives and approaches.Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2020Review
- Macrophage migration inhibitory factor -173 G>C single nucleotide polymorphism and its association with active pulmonary tuberculosis.PloS one · 2020Article
- Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants.Genes and immunity · 2019Article
- The Interplay of Human andFrontiers in genetics · 2019Review
- Human genetics of mycobacterial disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2018Review
- NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population.Scientific reports · 2018Article
- Neutrophils: Innate Effectors of TB Resistance?Frontiers in immunology · 2018Review
- Functional Analysis of Genetic Variations in Surfactant Protein D in Mycobacterial Infection and Their Association With Tuberculosis.Frontiers in immunology · 2018Article
- Sorcin induces gastric cancer cell migration and invasion contributing to STAT3 activation.Oncotarget · 2017Article
- Population structure and infectious disease risk in southern Africa.Molecular genetics and genomics : MGG · 2017Review
Corrections and comments
- Erratum issued
Authors and funding
13 authors at 7 institutions in 6 countries.
Funding
Abstract
rationaleTuberculosis remains a major cause of morbidity and mortality in the developing world. A better understanding of the mechanisms of disease protection could allow novel strategies to disease management and control.
objectivesTo identify human genomic loci with evidence of linkage to tuberculosis susceptibility and, within these loci, to identify individual genes influencing tuberculosis susceptibility.
methodsAffected sibling pair analysis in South African and Malawian populations. Independent case-control study in West Africa. MEASUREMENTS AND MAIN
resultsTwo novel putative loci for tuberculosis susceptibility are identified: chromosome 6p21-q23 and chromosome 20q13.31-33--the latter with the strongest evidence for any locus reported to date in human tuberculosis (single point LOD score of 3.1, P = 10(-4), with a maximum likelihood score [MLS] of 2.8). An independent, multistage genetic association study in West African populations mapped this latter region in detail, finding evidence that variation in the melanocortin 3 receptor (MC3R) and cathepsin Z (CTSZ) genes play a role in the pathogenesis of tuberculosis.
conclusionsThese results demonstrate how a genomewide approach to the complex phenotype of human tuberculosis can identify novel targets for further research.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.