Nie Ziyan, Hu Xiaopan, Hu Peinan, Li Peiqiang, Zhou Haijing, Xie Xiaodong
School of Basic Medical Sciences, Lanzhou University, Lanzhou, 730000, Gansu, PR China.
Key Laboratory of Stomatology of the State Ethnic Affairs Commission, Northwest Minzu University, Lanzhou, Gansu, PR China.
BMC Oral Health. 2024 Dec 18;24(1):1495. doi: 10.1186/s12903-024-05227-0.
There is an ongoing controversy regarding the expression of vitamin D receptor (VDR) and binding protein (VDBP) genes, as well as their polymorphisms, in periodontitis. We examined eight single nucleotide polymorphisms (SNPs) and performed a transcriptome-level bioinformatics analysis to clarify their relationship with periodontitis.
To explore VDR and VDBP polymorphisms, 600 subjects were included, including 307 patients with chronic periodontitis (CP) and 293 healthy controls. Genomic DNA was extracted from peripheral venous blood collected from each subject. A MassARRAY system was used to detect SNPs, including rs1544410G/A (BsmI), rs2228570C/T (FokI), rs7975232G/T (ApaI), rs731236T/C (TaqI), rs739837G/T, rs9729G/T, and rs3847987C/A in the VDR gene, and rs7041A/C in the VDBP gene. Then, we analyzed transcriptome sequencing datas of gingival tissues from two single-cell transcriptome sequencing studies to identify differential expression profiles. The objective was to further explore the potential association between VDR gene and gingival tissues in individuals with CP.
The regression analysis model revealed a significant relationship between rs739837G/T (P = 0.04) and rs7041A/C (P = 0.03) polymorphisms and CP susceptibility. Subjects carrying the TT genotype of rs739837 showed a decreased risk of developing CP compared to those carrying the GG + GT genotype (OR = 0.53, 95% CI = 0.29-0.99). Individuals carrying the AC + CC genotype of rs7041 showed a reduced risk of developing CP compared to those with the AA genotype (OR = 0.70, 95% CI = 0.51-0.97). Furthermore, allele C of rs7041 was found to have a protective effect against periodontitis (P = 0.03, OR = 0.75, CI = 0.58-0.98). However, no association was found between CP susceptibility and six other 6 SNPs (rs1544410, rs2228570, rs7975232, rs9729, rs731236, and rs3847987). Differential levels of VDR transcription were observed in gingival tissues during CP.
VDR genetic variability and transcriptional expression are significant factors affecting susceptibility to CP. These findings suggested that rs739837 TT in VDR and rs7041 A/C in VDBP may be protective against periodontitis.
关于维生素D受体（VDR）和结合蛋白（VDBP）基因的表达及其多态性在牙周炎中的情况，目前仍存在争议。我们检测了8个单核苷酸多态性（SNP），并进行了转录组水平的生物信息学分析，以阐明它们与牙周炎的关系。
为探究VDR和VDBP多态性，纳入600名受试者，包括307例慢性牙周炎（CP）患者和293名健康对照。从每个受试者采集的外周静脉血中提取基因组DNA。使用MassARRAY系统检测SNP，包括VDR基因中的rs1544410G/A（BsmI）、rs2228570C/T（FokI）、rs7975232G/T（ApaI）、rs731236T/C（TaqI）、rs739837G/T、rs9729G/T和rs3847987C/A，以及VDBP基因中的rs7041A/C。然后，我们分析了两项单细胞转录组测序研究中牙龈组织的转录组测序数据，以确定差异表达谱。目的是进一步探索CP患者中VDR基因与牙龈组织之间的潜在关联。
回归分析模型显示，rs739837G/T（P = 0.04）和rs7041A/C（P = 0.03）多态性与CP易感性之间存在显著关系。与携带GG + GT基因型的受试者相比，携带rs739837 TT基因型的受试者患CP的风险降低（OR = 0.53，95% CI = 0.29 - 0.99）。与AA基因型的个体相比，携带rs7041 AC + CC基因型的个体患CP的风险降低（OR = 0.70，95% CI = 0.51 - 0.97）。此外，发现rs7041的等位基因C对牙周炎有保护作用（P = 0.03，OR = 0.75，CI = 0.58 - 0.98）。然而，未发现CP易感性与其他6个SNP（rs1544410、rs2228570、rs7975232、rs9729、rs731236和rs3847987）之间存在关联。在CP期间，牙龈组织中观察到VDR转录水平存在差异。
VDR基因变异性和转录表达是影响CP易感性的重要因素。这些发现表明，VDR中的rs739837 TT和VDBP中的rs7041 A/C可能对牙周炎具有保护作用。
