@article{22220,
  keywords = {Adult, Brazil, Case-Control Studies, DNA, Female, Genetic Variation, genotype, Humans, leprosy, Male, Mycobacterium leprae, polymerase chain reaction, Polymorphism, Single Nucleotide, Tumor Necrosis Factor-alpha, Young Adult},
  author = {Cardoso C and Pereira AC and Brito-de-Souza V and Duraes S and Ribeiro-Alves M and Nery JA and Francio  and Vanderborght P and Parelli FP C and Alter A and Salgado JL and Sampaio E and Santos AR and Oliveira MLWD and Sarno E and Schurr E and Mira MT and Pacheco A and Moraes M},
  title = {TNF -308G>A single nucleotide polymorphism is associated with leprosy among Brazilians: a genetic epidemiology assessment, meta-analysis, and functional study.},
  abstract = {<p>Leprosy is an infectious disease caused by Mycobacterium leprae. Tumor necrosis factor (TNF) plays a key role in the host response. Some association studies have implicated the single nucleotide polymorphism TNF -308G>A in leprosy susceptibility, but these results are still controversial. We first conducted 4 association studies (2639 individuals) that showed a protective effect of the -308A allele (odds ratio [OR] = 0.77; P = .005). Next, results of a meta-analysis reinforced this association after inclusion of our new data (OR = 0.74; P = .04). Furthermore, a subgroup analysis including only Brazilian studies suggested that the association is specific to this population (OR = 0.63; P = .005). Finally, functional analyses using whole blood cultures showed that patients carrying the -308A allele produced higher TNF levels after lipopolysaccharide (LPS) (6 hours) and M. leprae (3 hours) stimulation. These results reinforce the association between TNF and leprosy and suggest the -308A allele as a marker of disease resistance, especially among Brazilians.</p>},
  year = {2011},
  journal = {The Journal of infectious diseases},
  volume = {204},
  pages = {1256-63},
  month = {2011 Oct 15},
  publisher = {Oxford University Press},
  address = {Oxford},
  issn = {1537-6613},
  doi = {10.1093/infdis/jir521},
  language = {eng},
}