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Single nucleotide polymorphisms (SNPs) at -238 and -308 positions in the TNFalpha promoter: clinical and bacteriological evaluation in leprosy.
Int J Lepr Other Mycobact Dis ; 72(2): 143-8, 2004 Jun.
Article em En | MEDLINE | ID: mdl-15301589
Tumor necrosis factor alpha (TNFalpha) plays a key role in orchestrating the complex events involved in inflammation and immune response. The presence of single nucleotide polymorphisms (SNPs) within the promoter region of the TNFa gene has been associated with a number of diseases. The aim of this study was to investigate the distribution of polymorphisms at positions -238 (G/A) and -308 (G/A) at the TNFalpha promoter, and its association to the outcome of different clinical forms of leprosy. Furthermore, the bacteriological index (BI) was evaluated among genotyped multibacillary (MB) patients in order to investigate the possible influence of each polymorphism on the bacterial load. This study included a total of 631 leprosy patients being 401 MB and 230 paucibacillary (PB), that was further separated according to its ethnicity (Afro- and Euro-Brazilians). The combination of SNPs in haplotypes generated three different arrangements: TNFG-G, TNFG-A and TNFA-G. In spite of the marked differences observed in the frequency of the haplotypes along the ethnic groups, no statistical differences were observed in haplotype frequencies between MB and PB patients. The BI analyses showed a lower bacteriological index among the -308 carriers, while the BI of the -238 carriers was higher. Although no significance has been achieved in this analysis regarding the influence of the polymorphisms to the development of the clinical outcome, it seems that in a different stage (among the MB patients) the polymorphisms could contribute to the degree of severity observed.
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Necrose Tumoral alfa / Polimorfismo de Nucleotídeo Único / Hanseníase / Mycobacterium leprae Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male País/Região como assunto: America do sul / Brasil Idioma: En Revista: Int J Lepr Other Mycobact Dis Ano de publicação: 2004 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Necrose Tumoral alfa / Polimorfismo de Nucleotídeo Único / Hanseníase / Mycobacterium leprae Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male País/Região como assunto: America do sul / Brasil Idioma: En Revista: Int J Lepr Other Mycobact Dis Ano de publicação: 2004 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos