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Título : Polymorphism in Tumor Necrosis Factor Genes Associated with Mucocutaneous Leishmaniasis
Autor : Cabrera, Maira
Shaw, Marie- Anne
Sharples, Claire
Williams, Hazel
Castés, Marianella
Convit, Jacinto
Blackwell, Jenefer M
Palabras clave : American cutaneous leishmaniasis
Fecha de publicación : Nov-1995
Editorial : Journal of Experimental Medicine
Citación : Vol.182;
Resumen : 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.
ISSN : 0022-1007
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