Martha Maria de Oliveira,
Jocilea C. S. da Silva,
Joseane F. Costa,
Lúcia Helena Amim,
Carla C. S. Loredo,
Hedi Melo,
Luiz F. Queiroz,
Fernanda C. Q. Mello,
José Roberto Lapa e Silva,
Afrânio Lineu Kritski,
Adalberto Rezende Santos
J Bras Pneumol.2004;30(4):461-467
Background: Host genetic factors may play a role in the susceptibility to active tuberculosis (TB), and several polymorphisms in different cytokine coding genes have been described and associated with diseases to date.
Objectives: To investigate whether polymorphisms within the promoter region of the TNF-á (-238/-308) coding genes are associated to the occurrence of active TB.
Methods: SNPs within the TNF-á gene were analyzed by PCR-RFLP among two groups of individuals: patients with TB (n = 234, and patients non TB (n = 113).
Results: In this study, the presence of the -238A allele was associated with susceptibility to TB disease occurrence and severity (p = 0,00002; OR = 0,15; IC = 0,06-0,36. On the contrary, the -308A allele was associated with protection to the occurrence of another pulmonary diseases.
Conclusions: These results suggest the importance of genetics studies on TB occurrence. Further studies are needed pursuing a better understanding of the human pathogenesis of M. tb.
Keywords: Tuberculosis/genetics. Polymorphism, single nucleotide/genetics. Tumor necrosis factor/genetics. Alleles. Genotype. Lung diseases.