Department of Oral Medicine and Pathology and Hospital Dentistry School of Dentistry, National and Kapodistrian University of Athens 2 Thivon St., Goudi 11527, Athens, Greece
Med Oral Patol Oral Cir Bucal. 2022 Sep 1;27(5):e426-e433. doi: 10.4317/medoral.25352.
Recurrent aphthous stomatitis (RAS) is one of the most frequent inflammatory disorders of the oral mucosa. Cytokines, which play an important role in RAS pathogenesis, participate directly or indirectly in normal, immunological and inflammatory processes and are secreted from cells belonging to innate and adaptive immunity as a consequence of microbial and antigenic stimuli. Gene polymorphisms in specific cytokines may predispose to RAS development. The aim of this study was the investigation and association of IL-10 and TGF-β1 gene polymorphisms with RAS.
Study's cohort consisted of 60 Greek patients diagnosed with RAS, including 40 patients with minor, 10 patients with major and 10 with herpetiform aphthous ulcers. Forty age- and sex-matched control subjects were included in this study. DNA was extracted from whole blood samples of all patients and sequence-specific primers (SSP)-based polymerase chain reaction (PCR) was used for genotyping. Gene polymorphisms for cytokines IL-10 at loci -592 and -819 and for TGF-β1 at codon 10 were detected.
Significant differences between patients with minor RAS and healthy controls were recorded for IL-10 genotypes distribution at position -592 (p=0.042) and -819 (p=0.045) with predominance of C/A and C/T genotypes in RAS patients, respectively. Also, in patients with minor and herpetiform aphthous ulcerations, heterozygous TGF-β1 genotype C/T at codon 10 was associated with increased risk of RAS (p=0.044 and p=0.020, respectively).
These data provide evidence that genetic predisposition for RAS and possibly its specific clinical variants is related with the presence of gene polymorphisms for specific cytokines, including IL-10 and TGF-β1, which, in turn, may vary according to geographic origin and genetic background.
复发性阿弗他口炎（RAS）是口腔黏膜最常见的炎症性疾病之一。细胞因子在 RAS 发病机制中发挥重要作用，直接或间接地参与正常、免疫和炎症过程，并作为微生物和抗原刺激的结果从先天和适应性免疫细胞中分泌。特定细胞因子的基因多态性可能导致 RAS 的发生。本研究旨在研究和探讨 IL-10 和 TGF-β1 基因多态性与 RAS 的关系。
研究队列包括 60 名被诊断为 RAS 的希腊患者，其中 40 名患者为轻型，10 名患者为重型，10 名患者为疱疹样阿弗他溃疡。本研究纳入了 40 名年龄和性别匹配的对照者。从所有患者的全血样本中提取 DNA，并使用序列特异性引物（SSP）-基于聚合酶链反应（PCR）进行基因分型。检测细胞因子 IL-10 在基因座-592 和-819 以及 TGF-β1 在密码子 10 的基因多态性。
在轻型 RAS 患者和健康对照组之间，IL-10 基因型在位置-592（p=0.042）和-819（p=0.045）的分布存在显著差异，RAS 患者分别以 C/A 和 C/T 基因型为主。此外，在轻型和疱疹样阿弗他溃疡患者中，TGF-β1 基因型在密码子 10 处杂合 C/T 与 RAS 风险增加相关（p=0.044 和 p=0.020）。
这些数据提供了证据表明，RAS 的遗传易感性及其特定的临床变体与特定细胞因子（包括 IL-10 和 TGF-β1）的基因多态性有关，而这些基因多态性可能因地理位置和遗传背景而异。
