PMID- 17711410 OWN - NLM STAT- MEDLINE DCOM- 20071206 LR - 20071008 IS - 0001-2815 (Print) IS - 0001-2815 (Linking) VI - 70 IP - 5 DP - 2007 Nov TI - Cytokine gene polymorphisms in Colombian patients with systemic lupus erythematosus. PG - 376-82 AB - Systemic lupus erythematosus (SLE) patients exhibit alterations in cytokine production that may be relevant to SLE pathogenesis. There is evidence that cytokine gene polymorphisms control cytokine production; thus, these polymorphisms may be associated with SLE or its clinical manifestations. To establish the association of tumor necrosis factor alpha (TNF-alpha), transforming growth factor (TGF) beta1, interleukin (IL)-10, and IL-6 gene polymorphisms in Colombian SLE patients and their clinical manifestations, 120 SLE patients and 102 healthy controls were studied. Single nucleotide polymorphisms were studied by sequence-specific primers polymerase chain reaction (SSP-PCR) at: TNFalpha-308 (G/A), TGFbeta1 codon 10 (C/T) and codon 25 (G/C), IL-10 -1082 (G/A), -819 (C/T) and -592 (C/A), and IL-6 + 174 (G/C). Human leukocyte antigen (HLA)-DRbeta1 was typed by SSP-PCR. SLE patients had increased frequency of allele C at TGFbeta1 codon 25 (P = 0.0001, odds ratio (OR): 4.25, 95% confidence interval (CI): 2.17-8.35) and allele A at TNFalpha-308 (P = 0.0004 OR: 3.9, 95% CI: 1.65-5.80) compared with healthy controls. There was higher frequency of GC genotype at TGFbeta1 codon 25 in SLE patients (P < 0.0001). Extended genotypic analysis showed that SLE patients have decreased frequency of TNFalphaLow/TGFbeta1High (0.50) compared with healthy controls (0.80) (P < 0.0001). No association was found between these polymorphisms and SLE clinical manifestations except for Sm and Ro autoantibodies that were associated with TNFalpha allele A. There is an association between TNFalpha-308A/TGFbeta1 codon 25C with SLE susceptibility in Colombian population. This association may result in a highly inflammatory response with a decrease regulatory function mediated by TNFalpha and TGFbeta1, respectively. The TNFalpha-308A/TGFbeta1 25C genotype may be one component of genetic susceptibility to SLE in Colombian population. FAU - Guarnizo-Zuccardi, P AU - Guarnizo-Zuccardi P AD - Grupo de Immunologia Celular e Inmunogenetica, Universidad de Antioquia, Medellin, Colombia. FAU - Lopez, Y AU - Lopez Y FAU - Giraldo, M AU - Giraldo M FAU - Garcia, N AU - Garcia N FAU - Rodriguez, L AU - Rodriguez L FAU - Ramirez, L AU - Ramirez L FAU - Uribe, O AU - Uribe O FAU - Garcia, L AU - Garcia L FAU - Vasquez, G AU - Vasquez G LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20070817 PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (Codon) RN - 0 (Cytokines) SB - IM MH - *Alleles MH - Codon/genetics MH - Colombia MH - Cytokines/*genetics MH - Female MH - *Gene Frequency MH - *Genetic Predisposition to Disease MH - Genotype MH - Humans MH - Lupus Erythematosus, Systemic/*genetics/pathology MH - Male MH - *Polymorphism, Single Nucleotide EDAT- 2007/08/23 09:00 MHDA- 2007/12/07 09:00 CRDT- 2007/08/23 09:00 PHST- 2007/08/23 09:00 [pubmed] PHST- 2007/12/07 09:00 [medline] PHST- 2007/08/23 09:00 [entrez] AID - TAN917 [pii] AID - 10.1111/j.1399-0039.2007.00917.x [doi] PST - ppublish SO - Tissue Antigens. 2007 Nov;70(5):376-82. doi: 10.1111/j.1399-0039.2007.00917.x. Epub 2007 Aug 17.