Programa de Pós Graduação em Odontologia, Centro de Ciências da Saúde, Universidade Federal da Paraíba - UFPB, João Pessoa, Brazil.
Departamento de Biologia Molecular, Centro de Ciências Exatas e da Natureza, Universidade Federal da Paraíba - UFPB, João Pessoa, Brazil.
Oral Dis. 2023 Nov;29(8):3381-3392. doi: 10.1111/odi.14394. Epub 2022 Oct 18.
To investigate the relationship between the polymorphisms rs1544410 (BsmI), rs2228570 (FokI) and rs731236 (TaqI) and DNA methylation status in the VDR gene (vitamin D receptor) with oral mucositis (OM) in oncopaediatric patients treated with methotrexate (MTX®).
The population comprised healthy patients with haematological malignancies aged between 5 and 19 years. An evaluation of oral conditions was performed using the Oral Assessment Guide. Demographic, clinical, biochemical and haematological data were obtained from medical records. Genomic DNA from oral mucosal cells was used for the analysis of polymorphisms (n = 102) (PCR-restriction fragment length polymorphism) and DNA methylation (n = 81) (methylation-specific PCR).
Males predominated (57.8%), and the mean age was 10.3 years (±4.7). OM affected 84.3% of patients, of which 53.1% developed severe oral mucositis (SOM). Patients with OM had lower platelet and leukocyte counts (p < 0.05). The G allele of rs1544410 (p = 0.040) and the CT genotype of rs2228570 polymorphisms were associated with SOM (p = 0.038). A partially methylated status in the VDR promoter was found in all patients.
OM is associated with lower leukocyte and platelet counts. SOM is associated with the rs1544410 and rs2228570 polymorphisms. The methylation status of the VDR is not associated with inflammation or exposure to MTX®.
研究维生素 D 受体（VDR）基因中 rs1544410（BsmI）、rs2228570（FokI）和 rs731236（TaqI）多态性与接受甲氨蝶呤（MTX®）治疗的肿瘤儿科患者口腔黏膜炎（OM）的 DNA 甲基化状态之间的关系。
该人群由年龄在 5 至 19 岁之间的患有血液系统恶性肿瘤的健康患者组成。使用口腔评估指南对口腔状况进行评估。从病历中获取人口统计学、临床、生化和血液学数据。使用口腔黏膜细胞的基因组 DNA 进行多态性分析（n=102）（PCR-限制性片段长度多态性）和 DNA 甲基化分析（n=81）（甲基化特异性 PCR）。
男性占主导地位（57.8%），平均年龄为 10.3±4.7 岁。84.3%的患者发生 OM，其中 53.1%发生严重口腔黏膜炎（SOM）。发生 OM 的患者血小板和白细胞计数较低（p<0.05）。rs1544410 的 G 等位基因（p=0.040）和 rs2228570 多态性的 CT 基因型与 SOM 相关（p=0.038）。所有患者的 VDR 启动子均存在部分甲基化状态。
OM 与白细胞和血小板计数降低有关。SOM 与 rs1544410 和 rs2228570 多态性相关。VDR 的甲基化状态与炎症或暴露于 MTX®无关。
