RGD Reference Report - A functional haplotype in the 3'untranslated region of TNFRSF1B is associated with tuberculosis in two African populations. - Rat Genome Database

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A functional haplotype in the 3'untranslated region of TNFRSF1B is associated with tuberculosis in two African populations.

Authors: Moller, M  Flachsbart, F  Till, A  Thye, T  Horstmann, RD  Meyer, CG  Osei, I  Van Helden, PD  Hoal, EG  Schreiber, S  Nebel, A  Franke, A 
Citation: Moller M, etal., Am J Respir Crit Care Med. 2010 Feb 15;181(4):388-93. Epub 2009 Dec 10.
RGD ID: 5131209
Pubmed: PMID:20007930   (View Abstract at PubMed)
PMCID: PMC2822974   (View Article at PubMed Central)
DOI: DOI:10.1164/rccm.200905-0678OC   (Journal Full-text)

RATIONALE: Susceptibility to tuberculosis is not only determined by Mycobacterium tuberculosis infection, but also by the genetic component of the host. The pleiotropic cytokine tumor necrosis factor-alpha is essential to control tuberculosis infection, and various tumor necrosis factor family members and their respective receptors may contribute to tuberculosis risk. OBJECTIVES: To investigate four functionally relevant polymorphisms in the tumor necrosis factor receptor 2-encoding gene, tumor necrosis factor receptor superfamily member 1B, for association with tuberculosis susceptibility. METHODS: Genotyping of four polymorphisms was performed in independent populations from South Africa (429 cases and 482 control subjects) and Ghana (640 cases and 1,158 control subjects), and the association of the variants with tuberculosis was tested using two case-control association studies. MEASUREMENTS AND MAIN RESULTS: Single-point and haplotype analysis in South Africans revealed an association in the 3'untranslated region of the investigated gene. The T allele of rs3397 alone and/or the 3' untranslated region haplotype GTT may confer protection against tuberculosis insofar as both allele and haplotype frequencies were significantly lower in case subjects than in controls. The GTT genotype had previously been shown to increase the decay of tumor necrosis factor receptor 2 messenger ribonucleic acid, and messenger ribonucleic acid destabilization may represent a key molecular mechanism for disease susceptibility. Interestingly, the association signal appeared to be restricted to women. The genetic finding was validated in female participants from Ghana. The combined P value in the haplotype analysis was P = 0.00011. CONCLUSIONS: Our finding emphasizes the importance of tumor necrosis factor/tumor necrosis factor receptor-mediated immune responses in the pathogenesis of tuberculosis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
tuberculosis  IAGP 5131209DNA:snp:3' utr:g.*215C>T rs3397 (human)RGD 
tuberculosis  ISOTNFRSF1B (Homo sapiens)5131209; 5131209DNA:snp:3' utr:g.*215C>T rs3397 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tnfrsf1b  (TNF receptor superfamily member 1B)

Genes (Mus musculus)
Tnfrsf1b  (tumor necrosis factor receptor superfamily, member 1b)

Genes (Homo sapiens)
TNFRSF1B  (TNF receptor superfamily member 1B)


Additional Information