Department of Oral Mucosa Diseases, University of Medical Sciences, Poznań, Poland.
Department of Nucleic Acids Function, Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.
Arch Oral Biol. 2017 Dec;84:45-49. doi: 10.1016/j.archoralbio.2017.09.013. Epub 2017 Sep 19.
Recurrent aphthous stomatitis (RAS) is a chronic, ulcerative disease with a probable polygenic mode of inheritance and complex etiology with a strong immunological background. The aim of the present study was to determine the possible association between two single nucleotide polymorphisms (SNPs) of the IL-1β gene: IL-1β-511 T>C (rs16944) and IL-1β+3954C>T (rs1143634) and RAS susceptibility in a moderately large group of patients.
One hundred and four patients with minor, major and herpetiform RAS and 75 healthy volunteers were genotyped at IL-1β-511 T>C (rs16944) and IL-1β+3954C>T (rs1143634) using the PCR-RFLP approach. The results were statistically analysed with chi-square test and test of difference between two rates of structure, with p<0.05 assumed to be a statistically significance level (Statistica 10, StatSoft, Kraków, Poland).
There were no statistically significant differences in the genotype distribution for the IL-1β C[+3954]T polymorphism between the RAS and control groups. The frequency of IL-1β*T[-511]/*T[-511] homozygotes among the patients was significantly higher when compared to our study control (p<0.0347). The results after stratification into carriers and non-carriers of C and T alleles did not clearly indicate which SNP may be considered a risk factor for RAS.
The genetic association between the studied SNPs of the IL-1β gene and RAS remains controversial and requires further investigation.
复发性阿弗他口炎(RAS)是一种慢性溃疡性疾病,具有可能的多基因遗传模式和复杂的病因,具有强烈的免疫背景。本研究的目的是确定白细胞介素-1β(IL-1β)基因的两个单核苷酸多态性(SNP):IL-1β-511 T>C(rs16944)和 IL-1β+3954C>T(rs1143634)与 RAS 易感性之间的可能关联,该研究纳入了一组较大的患者。
采用 PCR-RFLP 法,对 104 例轻、重和疱疹样 RAS 患者和 75 名健康志愿者进行 IL-1β-511 T>C(rs16944)和 IL-1β+3954C>T(rs1143634)的基因分型。采用卡方检验和结构比的差异检验对结果进行统计学分析,p<0.05 被认为具有统计学意义(Statistica 10,StatSoft,克拉科夫,波兰)。
RAS 组和对照组之间,IL-1β C[+3954]T 多态性的基因型分布无统计学差异。与我们的研究对照组相比,患者中 IL-1β*T[-511]/*T[-511]纯合子的频率显著升高(p<0.0347)。对 C 和 T 等位基因携带者和非携带者进行分层后,哪种 SNP 可能被认为是 RAS 的风险因素并不明确。
IL-1β 基因研究 SNP 与 RAS 之间的遗传关联仍存在争议,需要进一步研究。