Gene polymorphism of β-defensin-1 is associated with susceptibility to periodontitis in Japanese
Gene polymorphism of β-defensin-1 is associated with susceptibility to periodontitis in Japanese
复制标题
DOI：
10.1007/s10266-013-0139-9
复制
发表时间：
2015-01-01
期刊：
影响因子：
2.5
通讯作者：
Nagata, Toshihiko
中科院分区：
文献类型：
--
作者：
Ikuta, Takahisa;Inagaki, Yuji;Nagata, Toshihiko
牙周炎是一种与遗传和环境因素有关的多因素疾病。单核苷酸多态性（snp）与糖尿病和牙周炎等常见疾病的易感性有关。虽然口腔暴露于各种生物，但条件是由先天和获得性免疫系统很好地控制。抗菌肽（AMPs）在先天免疫系统中发挥重要作用；然而，amp - snp与牙周炎的关系尚未完全阐明。本研究探讨了amp - snp与日本人牙周炎的关系。研究招募了105名日本受试者，其中包括侵袭性、重度、中度和轻度牙周炎患者，以及年龄匹配的健康对照。从外周血中分离基因组DNA，用PCR-Invader法检测β -防御素-1和乳铁蛋白基因（DEFB1: rs1799946、rs1800972和rs11362， LTF: rs1126478）的snp基因型。ELISA法测定龈沟液中AMPs蛋白水平。病例对照研究显示，DEFB1的-44 CC基因型（rs1800972）与牙周炎（OR 2.51）相关，特别是与重度慢性牙周炎（OR 4.15）和重度和中度慢性牙周炎（OR 4.04）相关。其他基因型间差异无统计学意义。具有-44 CC DEFB1基因型的受试者GCF中β -防御素-1浓度显著低于无该基因型的受试者。AMPs的GCF浓度与其他基因型无显著差异。日本人β -防御素-1基因（DEFB1 rs1800972）的-44 CC基因型可能与慢性牙周炎的易感性有关。
Periodontitis is a multifactorial disease associated with genetic and environmental factors. Single-nucleotide polymorphisms (SNPs) are associated with susceptibility to common diseases such as diabetes and periodontitis. Although the oral cavity is exposed to various organisms, the conditions are well controlled by innate and acquired immune systems. Antimicrobial peptides (AMPs) play an important role in the innate immune system; however, the association of AMP-SNPs with periodontitis has not been fully elucidated. This study investigated the relationship between AMP-SNPs and periodontitis in Japanese. One hundred and five Japanese subjects were recruited, which included patients with aggressive, severe, moderate and mild periodontitis, and age-matched healthy controls. Genomic DNA was isolated from peripheral blood and genotypes of SNPs of beta-defensin-1 and lactoferrin genes (DEFB1: rs1799946, rs1800972 and rs11362; and LTF: rs1126478) were investigated using the PCR-Invader assay. Protein level of AMPs in gingival crevicular fluid (GCF) was quantified by ELISA. Case-control studies revealed that the -44 CC genotype of DEFB1 (rs1800972) was associated with periodontitis (OR 2.51), particularly with severe chronic periodontitis (OR 4.15) and with combined severe and moderate chronic periodontitis (OR 4.04). No statistical differences were found in other genotypes. The beta-defensin-1 concentrations in GCF were significantly lower in subjects with the -44 CC genotype of DEFB1 than in those without this genotype. No significant differences between GCF concentrations of AMPs and other genotypes were detected. The -44 CC genotype of the beta-defensin-1 gene (DEFB1 rs1800972) may be associated with susceptibility to chronic periodontitis in Japanese.