Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease: A meta-analysis

PTPN22型 炎症性肠病 等位基因 优势比 基因型 免疫学 遗传倾向 克罗恩病 等位基因频率 溃疡性结肠炎 荟萃分析 候选基因 遗传学 生物 疾病 胃肠病学 医学 内科学 单核苷酸多态性 基因
作者
Anna Latiano,Orazio Palmieri,Maria Rosa Valvano,Fabrizio Bossa,Tiziana Latiano,Giuseppe Corritore,Ermelinda DeSanto,Angelo Andriulli,Vito Annese
出处
期刊:Inflammatory Bowel Diseases [Oxford University Press]
卷期号:13 (10): 1212-1219 被引量:38
标识
DOI:10.1002/ibd.20185
摘要

We tested several polymorphisms of genes involved in the mucosal immune system in a population of inflammatory bowel disease (IBD) patients to investigate their possible implication in disease predisposition. Polymorphisms of 3 candidate genes (PTPN22, NFkB1, and FcGRIIIA) were investigated in 649 IBD patients (343 with Crohn's disease [CD] and 306 with ulcerative colitis [UC]), 176 unaffected relatives, and 256 healthy controls. Allele and genotype frequencies were correlated with clinical characteristics and major variants of the CARD15 gene. Our findings were pooled in a meta-analysis with the available studies in the literature. No significant difference for the PTPN22 and NFkB1 variants was found. In contrast, allele and genotype frequencies of the G559T allele of the FcGRIIIA gene were significantly different in CD patients compared to controls (allele T 12% versus 8%, odds ratio [OR] = 1.58, 95% confidence interval [CI] 1.06–2.35; GT genotype 23% versus 16%, OR = 1.64, 95% CI = 1.08–2.5). However, no significant overtransmission of the T allele was confirmed at the family-based analysis. For all genes, neither an interaction with CARD15 gene, nor a significant difference at genotype/phenotype analysis was demonstrated, included response to medical therapy. Although involved in autoimmune diseases, the PTPN22 and NFkB1 genes do not seem involved in the IBD predisposition, also according to meta-analysis results. The association with the G559T polymorphism of the FcGRIIIA gene in CD patients deserves further investigation.
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