Th1 cytokine polymorphisms in Spanish patients with type 1 diabetes

Several polymorphisms in regions where Th1 cytokines (IL12B and IFNG genes) are located were analyzed in 303 Spanish subjects with type I diabetes and compared with a control cohort (n = 548). Both groups comprised residents of the Madrid area. The haplotype frequencies were estimated by the expectation-maximizarion algorithim, and p values were corrected by the number of haplotypes taken into account in the study. Two haplotypes were significantly associated with the disease, one in the IL12B region (D5S2038*8/D5St352*2/SNP1188C; OR = 3.01, p(c) = 0.0255) and another involved the IFNG gene (D12S313*9/IFNG*1; OR = 1.58, p(c) = 0.0217). Furthermore, a protective IL12B haplotype was found (D5S2038*4/D5S1352*1/SNP1188A; OR 0.40, p(c) = 0.0405). No association was found for any of IL12B and IFNG markets individually. Human Immunology 66, 897-902 (2005). (c) American Society for Histocompatibility and Immunogenetics, 2005. Published by Elsevier Inc.