Clinic of Stomatology, Institution Shared with St. Anne's University Hospital, Faculty of Medicine, Masaryk University, Pekarska 664/53, 60200, Brno, Czech Republic.
Department of Pathophysiology, Faculty of Medicine, Masaryk University, Kamenice 753/5, 62500, Brno, Czech Republic.
BMC Oral Health. 2022 Mar 19;22(1):80. doi: 10.1186/s12903-022-02115-3.
Recurrent aphthous stomatitis (RAS) is multifactorial disease with unclear etiopathogenesis. The aim of this study was to determine distribution of the angiotensin I converting enzyme (ACE) gene polymorphisms and their influence on RAS susceptibility in Czech population.
The study included 230 subjects (143 healthy controls and 87 patients with RAS) with anamnestic, clinical and laboratory data. Five ACE gene polymorphisms (rs4291/rs4305/rs4311/rs4331/rs1799752 = ACE I/D) were determined by TaqMan technique.
The allele and genotype distributions of the studied ACE I/D polymorphisms were not significantly different between subjects with/without RAS (P > 0.05). However, carriers of II genotype were less frequent in the RAS group (OR = 0.48, 95% CI = 0.21-1.12, P = 0.059). Stratified analysis by sex demonstrated lower frequency of II genotype in women (OR = 0.33, 95% CI = 0.09-1.17, P < 0.035, P > 0.05, respectively) than in men with RAS (P > 0.05). Moreover, the frequency of AGTGD haplotype was significantly increased in RAS patients (OR = 13.74, 95% CI = 1.70-110.79, P = 0.0012, P < 0.05). In subanalysis, TGD haplotype was significantly more frequent in RAS patients (P < 0.00001) and CGI haplotype was less frequent in RAS patients (P < 0.01), especially in women (P = 0.016, P > 0.05).
Our study indicates that while the AGTGD and TGD haplotypes are associated with increased risk of RAS development, CGI haplotype might be one of protective factors against RAS susceptibility in Czech population.
复发性阿弗他口炎(RAS)是一种病因不明的多因素疾病。本研究旨在确定血管紧张素转换酶(ACE)基因多态性在捷克人群中的分布及其对 RAS 易感性的影响。
该研究纳入了 230 名受试者(143 名健康对照者和 87 名 RAS 患者),包括病史、临床和实验室数据。采用 TaqMan 技术检测 ACE 基因的 5 个多态性(rs4291/rs4305/rs4311/rs4331/rs1799752=ACE I/D)。
研究中 ACE I/D 多态性的等位基因和基因型分布在 RAS 患者和非 RAS 患者之间无显著差异(P>0.05)。然而,II 基因型携带者在 RAS 组中较少(OR=0.48,95%CI=0.21-1.12,P=0.059)。按性别分层分析显示,女性 II 基因型的频率较低(OR=0.33,95%CI=0.09-1.17,P<0.035,P>0.05),而 RAS 女性患者的 II 基因型频率较高(P>0.05)。此外,RAS 患者的 AGTGD 单倍型频率显著升高(OR=13.74,95%CI=1.70-110.79,P=0.0012,P<0.05)。亚分析显示,RAS 患者的 TGD 单倍型频率显著升高(P<0.00001),CGI 单倍型频率显著降低(P<0.01),尤其是女性(P=0.016,P>0.05)。
本研究表明,AGTGD 和 TGD 单倍型与 RAS 发病风险增加相关,而 CGI 单倍型可能是捷克人群中 RAS 易感性的保护因素之一。