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> Polymorphism in Tumor Necrosis Factor Genes Associated with Mucocutaneous Leishmaniasis
Please use this identifier to cite or link to this item: https://saber.ucv.ve/handle/10872/4515

Title: Polymorphism in Tumor Necrosis Factor Genes Associated with Mucocutaneous Leishmaniasis
Authors: Cabrera, Maira
Shaw, Marie- Anne
Sharples, Claire
Williams, Hazel
Castés, Marianella
Convit, Jacinto
Blackwell, Jenefer M
Keywords: American cutaneous leishmaniasis
TNF-alpha
polimorphisms
HLA-DRb
susceptibility
Issue Date: Nov-1995
Publisher: Journal of Experimental Medicine
Series/Report no.: Vol.182;
Abstract: 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)-oL. 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-[3 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-c~ 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-c~ and TNF-[3 polymorphisms have previously been linked with functional differences in TNF-oL levels, these data suggest that susceptibility to the mucocutaneous form of disease may be directly associated with regulatory polymorphisms affecting TNF-~x production.
URI: http://hdl.handle.net/10872/4515
ISSN: 0022-1007
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