Tuberculosis (TB) has different clinical presentations. Pulmonary TB affects only the lungs and exhibits variable anti-mycobacterial immune responses. Pleural TB is a localized disease with a strong immune response. Miliary TB is a disseminated form with poor immune response. Cytokines play a pivotal role in anti-mycobacterial response and may determine the type of TB. Thus, gene polymorphisms associated with cytokine production may be associated with clinical presentations of TB. In this study, 54 tuberculin-negative healthy controls, 81 tuberculin-positive healthy controls, 140 patients with pulmonary TB, 30 with pleural TB and 20 with miliary TB were studied. Single nucleotide polymorphisms were typed for tumour necrosis factor-alpha, interferon-gamma (IFN-gamma), transforming growth factor-beta 1, interteukin-10 (IL-10) and interleukin-6 by sequence-specific primer polymerase chain reaction (SSP-PCR). Allelic, genotypic and haplotypic associations with clinical forms of TB were evaluated. IL-10 -1082 A/A genotype and IFN gamma+874 T allele were associated with pleural TB. Seventy-five extended genotypes were found; two differed between patients and controls, and two between groups of patients. Results suggest that IL-10 tow-producer potymorphism and IFN-gamma high-producer polymorphism are associated with pleural TB. (c) 2005 Elsevier Ltd. All rights reserved.