02769nas a2200433   4500000000100000008004100001260001300042653003900055653001100094653000800105653004000113653001100153653001500164653001100179653001200190653000900202653002500211653003600236653003000272653002400302653003200326100001900358700001200377700001300389700002000402700001800422700001800440700001600458700001500474700001200489700001400501700001300515245014800528856004100676300001000717490000700727520158700734022001402321       2004                            d  c2004 Jun10aAfrican Continental Ancestry Group10aBrazil10aDNA10aEuropean Continental Ancestry Group10aFemale10aHaplotypes10aHumans10aleprosy10aMale10aMycobacterium leprae10aPolymorphism, Single Nucleotide10aPromoter Regions, Genetic10aRegression Analysis10aTumor Necrosis Factor-alpha1 aVanderborght P1 aMatos H1 aSalles A1 aVasconcellos SE1 aSilva-Filho V1 aHuizinga TW J1 aOttenhoff T1 aSampaio EP1 aSarno E1 aSantos AR1 aMoraes M00aSingle nucleotide polymorphisms (SNPs) at -238 and -308 positions in the TNFalpha promoter: clinical and bacteriological evaluation in leprosy.  uhttp://ila.ilsl.br/pdfs/v72n2a05.pdf  a143-80 v723 a<p>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.</p>  a0148-916X