Analysis of a GT Microsatellite in the Promoter of the foxp3/scurfin Gene in Autoimmune Diseases

• Published in: Human Immunology Vol. 66; no. 8; pp. 869 - 873
• Main Authors: Sánchez, Elena, Rueda, Blanca, Orozco, Gisela, Oliver, Javier, Vilchez, Jose R., Paco, Laura, López-Nevot, Miguel A., Callejas, José L., Sabio, José M., Gómez-Garcia, Maria, Nieto, A., Delgado, Mario, Martín, Javier
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2005
• Subjects: Arthritis, Rheumatoid - genetics; autoimmune diseases (AID); Autoimmune Diseases - genetics; celiac disease; Crohn Disease; Crohn’s disease; Female; Forkhead Transcription Factors - genetics; FOXP3 gene; Genetic Predisposition to Disease; Genotype; Humans; Inflammatory Bowel Diseases; Lupus Erythematosus, Systemic - genetics; Male; microsatellite; Microsatellite Repeats; Promoter Regions, Genetic; rheumatoid arthritis (RA); systemic lupus erythematosus (SLE); ulcerative colitis (UC); systemic lupus erythematosus (SLE); OR; FOXP3 gene; CI; T1D; Tregs; rheumatoid arthritis (RA); IBD; autoimmune diseases (AID); PBMC; SLE; UC; RA; ulcerative colitis (UC); celiac disease; microsatellite; AID; HLA; PCR; Crohn’s disease
• ISSN: 0198-8859; 1879-1166; 1365-2567
• DOI: 10.1016/j.humimm.2005.06.001

The aim of this study was to assess the possible association of the functional (GT) n microsatellite polymorphism in the FOXP3 gene with predisposition to several autoimmune diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), ulcerative colitis (UC), Crohn’s disease, and celiac disease. We analyzed a case-control cohort composed of 231 SLE patients, 293 RA patients, 528 inflammatory bowel disease (354 Crohn’s disease patients and 260 UC patients) patients, 103 celiac disease patients, and 274 healthy controls ethnically matched. Genotyping of (GT) n microsatellite was performed by polymerase chain reaction (PCR)-based method combined with fluorescent technology. We found no evidence for association of this polymorphism between controls and these autoimmune disease patients. Additionally, no differences in the genotype and allele distribution were found when patients were stratified according to clinical manifestation. The (GT) n microsatellite of the FOXP3 gene may not play a relevant role in the susceptibility to SLE, RA, inflammatory bowel disease, and celiac disease in our population.