Insights into AQP5 Polymorphism and Genetic Associations in Molar Incisor Hypomineralization and Dental Fluorosis.

IF 2.6 2区医学 Q1 DENTISTRY, ORAL SURGERY & MEDICINE

Caries Research Pub Date : 2025-08-26 DOI:10.1159/000547003

Juliane Rolim de Lavôr, Igor Cartaxo Fernandes, Debora Heloísa Silva de Brito, Fabio Correia Sampaio, Aronita Rosenblatt, Alexandre Rezende Vieira

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引用次数: 0

Abstract

Introduction: While fluoride exposure is a well-established factor in the development of dental fluorosis (DF), individual variability in susceptibility suggests that additional factors may also contribute to its manifestation. The etiology of molar incisor hypomineralization (MIH), in turn, is multifactorial and remains not fully understood. The aim of this study was to investigate the association between MIH, DF, caries, and polymorphisms in the AQP5, MMP2, and COMT genes in children exposed to high fluoride levels in drinking water.

Methods: A total of 268 schoolchildren aged 6-12 years from an area endemic for fluorosis were included. The EAPD, Thylstrup and Fejerskov, and WHO criteria were used for the diagnosis of MIH, DF, and caries, respectively. Saliva samples from participants were collected for genomic DNA extraction and subsequent genotyping, using the TaqMan method, focusing on markers in AQP5, MMP2, and COMT genes. For statistical analysis, chi-square and Fisher's exact tests, along with binary logistic regression, were used, considering a 5% significance level. Additionally, genetic assessments were conducted using PLINK software.

Results: DF was negatively associated with MIH in both crude (OR = 0.3; p = 0.003) and adjusted analyses (OR = 0.3; p = 0.002). AQP5 rs3736309 was significantly associated with an increased risk of DF under a dominant model, with the G allele being more prevalent in affected individuals, while its association with MIH followed a recessive pattern, requiring two copies of the G allele for increased risk. MMP2 rs9923304 was associated with DF under a recessive model, while rs2287074 and rs9923304 were related to dental caries in individuals with DF or MIH.

Conclusions: The marker in the AQP5 gene was significantly associated with both DF and MIH, presenting different risk patterns depending on the genetic model analyzed (dominant vs. recessive). DF appears to have a protective effect against MIH, highlighting the complex interplay between genetic and environmental factors in dental conditions.

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磨牙-门牙低矿化与氟斑牙AQP5多态性及其遗传关系的研究

导言：虽然氟暴露是氟牙症（DF）发展的一个公认因素，但易感性的个体差异表明，其他因素也可能有助于氟牙症的表现。臼齿-切牙低矿化（MIH）的病因是多因素的，但仍未完全了解。本研究的目的是调查暴露于高氟化物水平饮用水的儿童中MIH、氟斑牙、龋齿以及AQP5、MMP2和COMT基因多态性之间的关系。方法：对某氟中毒流行地区6 ~ 12岁学龄儿童268例进行调查。分别采用EAPD、Thylstrup和Fejerskov标准以及WHO标准诊断MIH、氟斑牙和龋齿。收集参与者的唾液样本进行基因组DNA提取和随后的基因分型，使用TaqMan方法，重点关注AQP5， MMP2和COMT基因中的标记。对于统计分析，考虑到5%的显著性水平，使用卡方检验和Fisher精确检验以及二元逻辑回归。此外，使用PLINK软件进行遗传评估。结果：DF与MIH在粗分析（OR = 0.3; p = 0.003）和校正分析（OR = 0.3; p = 0.002）中均呈负相关。在显性模式下，AQP5 rs3736309与DF风险增加显著相关，G等位基因在受影响个体中更为普遍，而其与MIH的关联遵循隐性模式，需要两个G等位基因拷贝才能增加风险。在隐性模型下，MMP2 rs9923304与DF相关，而rs2287074和rs9923304与DF或MIH个体的龋齿相关。结论：AQP5基因标记物与DF和MIH均有显著相关性，根据分析的遗传模型呈现不同的风险模式（显性与隐性）。DF似乎对MIH具有保护作用，强调了牙齿状况中遗传和环境因素之间复杂的相互作用。

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来源期刊

Caries Research 医学-牙科与口腔外科

CiteScore

6.30

自引率

7.10%

发文量

审稿时长

6-12 weeks

期刊介绍： ''Caries Research'' publishes epidemiological, clinical and laboratory studies in dental caries, erosion and related dental diseases. Some studies build on the considerable advances already made in caries prevention, e.g. through fluoride application. Some aim to improve understanding of the increasingly important problem of dental erosion and the associated tooth wear process. Others monitor the changing pattern of caries in different populations, explore improved methods of diagnosis or evaluate methods of prevention or treatment. The broad coverage of current research has given the journal an international reputation as an indispensable source for both basic scientists and clinicians engaged in understanding, investigating and preventing dental disease.