RGD Reference Report - Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. - Rat Genome Database

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Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis.

Authors: Cabrera, M  Shaw, MA  Sharples, C  Williams, H  Castes, M  Convit, J  Blackwell, JM 
Citation: Cabrera M, etal., J Exp Med. 1995 Nov 1;182(5):1259-64.
RGD ID: 8548799
Pubmed: PMID:7595196   (View Abstract at PubMed)
PMCID: PMC2192198   (View Article at PubMed Central)

Recent studies have shown that mucocutaneous leishmaniasis (MCL), a severe and debilitating form of American cutaneous leishmaniasis (ACL) caused by Leishmania braziliensis infection, is accompanied by high circulating levels of tumor necrosis factor (TNF)-alpha. Analysis of TNF polymorphisms in Venezuelan ACL patients and endemic unaffected controls demonstrates a high relative risk (RR) of 7.5 (P < 0.001) of MCL disease in homozygotes for allele 2 of a polymorphism in intron 2 of the TNF-beta gene, especially in females (RR = 9.5; P < 0.001) compared with males (RR = 4; P < 0.05). A significantly higher frequency (P < 0.05) of allele 2 at the -308-basepair TNF-alpha gene polymorphism was also observed in MCL patients (0.18) compared with endemic control subjects (0.069), again associated with a high relative risk of disease (RR = 3.5; P < 0.05) even in the heterozygous condition. Because both the TNF-alpha and TNF-beta polymorphisms have previously been linked with functional differences in TNF-alpha levels, these data suggest that susceptibility to the mucocutaneous form of disease may be directly associated with regulatory polymorphisms affecting TNF-alpha production.

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Lta  (lymphotoxin alpha)
Tnf  (tumor necrosis factor)

Genes (Mus musculus)
Lta  (lymphotoxin A)
Tnf  (tumor necrosis factor)

Genes (Homo sapiens)
LTA  (lymphotoxin alpha)
TNF  (tumor necrosis factor)

Additional Information