STAT4 gene influences genetic predisposition to ulcerative colitis but not Crohn's disease in the Spanish population: A replication study

• Published in: Human immunology Vol. 71; no. 5; pp. 515 - 519
• Main Authors: Diaz-Gallo, Lina Marcela, Palomino-Morales, Rogelio J, Gómez-García, María, Cardeña, Carlos, Rodrigo, Luis, Nieto, Antonio, Alcain, Guillermo, Cueto, Ignacio, López-Nevot, Miguel A, Martin, Javier
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.05.2010
• Subjects: Adult; Allergy and Immunology; Case-Control Studies; Colitis, Ulcerative - genetics; Crohn Disease - genetics; Crohn's disease; Female; Genetic association study; Genetic Predisposition to Disease; Humans; Inflammatory bowel disease; Male; Middle Aged; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Signal transducer and activator of transcription 4 ( STAT4) gene; Spain; STAT4 Transcription Factor - genetics; Ulcerative colitis; Spain; Inflammatory bowel disease; Genetic association study; Signal transducer and activator of transcription 4 ( STAT4) gene; Crohn's disease; Ulcerative colitis
• ISSN: 0198-8859; 1879-1166
• DOI: 10.1016/j.humimm.2010.02.005

Abstract Recently, the signal transducer and activator of transcription 4 ( STAT4 ) gene has been associated with multiple autoimmune diseases. Interestingly, a recent work showed that the T allele of the rs7574865 STAT4 SNP was associated with inflammatory bowel disease (IBD) in a Spanish population. The aim of the present study was to reevaluate the role of the STAT4 rs7574865 polymorphism on IBD. The present case-control study included 498 Crohn's disease (CD) patients, 402 ulcerative colitis (UC) patients, and 1296 healthy matched controls. Genotyping was performed using a PCR system with a pre-developed TaqMan allelic discrimination assay for the rs7574865 STAT4 SNP. Moreover, a meta-analysis was performed with the previous work in a Spanish population and the current study, including a final sample size of 1574 IBD patients (820 with CD and 754 with UC) and 2012 healthy controls. No evidence of association was found for the current case-control study (CD: p = 0.23, OR = 0.9, 95% CI = 0.75–1.1; UC: p = 0.17, OR = 1.14, 95% CI = 0.95–1.38). However, the meta-analysis showed that the STAT4 rs7574865 T allele was significantly associated with susceptibility to UC ( p = 0.012 pooled; OR = 1.20, 95% CI = 1.04–1.39) but not CD ( p = 0.71 pooled; OR = 0.93, 95% CI = 0.65–1.34). Our data suggest that the rs7574865 STAT4 SNP is a genetic susceptibility variant for UC but not CD in the Spanish population.