Department of Surgical, Medical and Health Sciences, University of Trieste, Trieste, Italy.
Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.
Oral Dis. 2017 Oct;23(7):1001-1008. doi: 10.1111/odi.12689. Epub 2017 Jun 5.
Chronic periodontitis is a common pathological condition that affects the supporting tissue of the teeth, leading to progressive alveolar bone destruction and teeth loss. The disease is caused by bacteria and derives from an altered host immune and inflammatory response, also involving different factors such as the oral hygiene, smoking, and genetic background. The innate immune response, the first line of host defense, could also play an important role in the susceptibility to chronic periodontitis. In this study, we evaluated the possible association between periodontal disease and seven genetic variations within DEFB1 and LTF genes, encoding for β-defensins 1 and lactoferrin (two members of oral innate immune system), in an Italian isolated population.
DEFB1 5'UTR g. -52G>A (rs1799946), g. -44C>G (rs1800972), g. -20G>A (rs11362), 3'UTR c5G>A (rs1047031), c87A>G (rs1800971), LTF p.Ala29Thr (rs1126477), and p.Lys47Arg (rs1126478) single nucleotide polymorphisms (SNPs) were analyzed in 155 healthy individuals and 439 chronic periodontitis patients from North-East Italy.
Significant associations were found between periodontitis and g. -20G>A (rs11362) and g. -44C>G (rs1800972) SNPs in DEFB1 gene as well as p.Ala29Thr (rs1126477) and p.Lys47Arg (rs1126478) SNPs in LTF gene.
Our results suggest the involvement of DEFB1 and LTF genetic variations in the susceptibility toward development of periodontitis.
慢性牙周炎是一种常见的病理状况,影响牙齿的支持组织,导致进行性牙槽骨破坏和牙齿丧失。该疾病由细菌引起,源于宿主免疫和炎症反应的改变,还涉及不同的因素,如口腔卫生、吸烟和遗传背景。先天免疫反应是宿主防御的第一道防线,也可能在慢性牙周炎的易感性中发挥重要作用。在这项研究中,我们评估了 DEFB1 和 LTF 基因中七个遗传变异与牙周病之间的可能关联,这些基因编码β-防御素 1 和乳铁蛋白(口腔先天免疫系统的两个成员),在意大利一个孤立的人群中。
DEFB1 5'UTR g.-52G>A(rs1799946)、g.-44C>G(rs1800972)、g.-20G>A(rs11362)、3'UTR c5G>A(rs1047031)、c87A>G(rs1800971)、LTF p.Ala29Thr(rs1126477)和 p.Lys47Arg(rs1126478)单核苷酸多态性(SNP)在意大利东北部的 155 名健康个体和 439 名慢性牙周炎患者中进行了分析。
在 DEFB1 基因中,g.-20G>A(rs11362)和 g.-44C>G(rs1800972)SNP 以及 LTF 基因中 p.Ala29Thr(rs1126477)和 p.Lys47Arg(rs1126478)SNP 与牙周炎显著相关。
我们的结果表明,DEFB1 和 LTF 基因的遗传变异参与了牙周炎的易感性。