Gaziosmanpasa University, Faculty of Medicine, Department of Dermatovenerology, Tokat, Turkey.
Gene. 2013 Sep 15;527(1):207-10. doi: 10.1016/j.gene.2013.05.053. Epub 2013 Jun 10.
Recurrent aphthous stomatitis (RAS) is one of the most common oral mucosal diseases, with a multifactorial etiopathogenesis, an interaction between predisposing factors and/or systemic conditions and immunological components in genetically predisposed subjects. Although there is no clear genetic mode of inheritance, there is evidence that inheritance of specific gene polymorphisms may predispose individuals to RAS. The purpose of the present study was to investigate a possible association between the functional interleukin 4 (IL4) VNTR genetic polymorphism and RAS in a sample of Turkish patients.
The study included 145 unrelated patients with a clinical diagnosis of RAS and 150 unrelated healthy controls. Genomic DNA was isolated and IL4 gene 70 bp VNTR polymorphism determined by using polymerase chain reaction (PCR) with specific primers.
The distribution of genotype and allele frequencies of IL4 gene intron 3 VNTR polymorphism was statistically different between RAS patients and control group (p<0.0001 and p<0.0001, respectively) P2P2 genotype and P2 allele were also found to be protective with a lower risk for susceptibility to RAS (p<0.0001).
The results of this study suggest that intron 3 VNTR polymorphism in the IL4 gene is associated with RAS susceptibility in Turkish population.
复发性阿弗他口炎(RAS)是最常见的口腔黏膜疾病之一,具有多因素的发病机制,在易患个体中,易患因素和/或全身状况与免疫成分之间存在相互作用。尽管没有明确的遗传模式,但有证据表明特定基因多态性的遗传可能使个体易患 RAS。本研究的目的是在土耳其患者样本中研究功能性白细胞介素 4(IL4)VNTR 遗传多态性与 RAS 之间的可能关联。
该研究包括 145 名临床诊断为 RAS 的无亲缘关系患者和 150 名无亲缘关系的健康对照。使用聚合酶链反应(PCR)用特异性引物分离基因组 DNA,并确定 IL4 基因 70 bp VNTR 多态性。
IL4 基因内含子 3 VNTR 多态性的基因型和等位基因频率分布在 RAS 患者和对照组之间存在统计学差异(p<0.0001 和 p<0.0001),P2P2 基因型和 P2 等位基因也被发现具有保护作用,降低了易感性的风险对 RAS(p<0.0001)。
本研究结果表明,IL4 基因内含子 3 VNTR 多态性与土耳其人群 RAS 的易感性有关。