Association between multiple genetic polymorphisms and molar-incisor hypomineralization: a population-based study.

IF 2.6 3区医学 Q2 DENTISTRY, ORAL SURGERY & MEDICINE

Journal of Applied Oral Science Pub Date : 2025-07-21 eCollection Date: 2025-01-01 DOI:10.1590/1678-7757-2025-0074

Luíse Gomes-Souza, Aluhê Lopes Fatturi, Rafaela Scariot, Cleber Machado-Souza, Erika Calvano Küchler, João Armando Brancher, Juliana Feltrin-Souza

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引用次数: 0

Abstract

Background: Certain genes present variants associated with molar-incisor hypomineralization (MIH) pathogenesis, especially genes encoding enamel development proteins related to morphogenesis, immune response, and hormone transcription and reception, demonstrating that MIH is likely a gene-environment issue with multiple genes having small individual effects.

Objective: To evaluate the association between single nucleotide polymorphisms (SNPs) and MIH.

Methodology: A sample of 90 children with MIH and 262 children without MIH were included in this study. Calibrated examiners diagnosed MIH (Kappa≥0.75) using the European Academy of Paediatric Dentistry (EAPD) criteria and modified DDE index in clinical exams. SNPs in the IL-6 (rs2069840 and rs2069833), ESR (rs9340799, rs1256049, rs4986938, and rs2234693), VDR (rs739837 and rs2228570), and 5-HTT genes (rs1042173 and rs38133034) were genotyped by real-time polymerase chain reaction from oral mucosa cells collected. Associations between MIH and SNPs genotypes (recessive and dominant models) and allele frequencies were tested using the chi-square test. Odds ratio (OR) and confidence intervals (CI) were calculated. A significance level of 5% was adopted. Genotypes were tested by the Hardy-Weinberg Equilibrium using chi-square.

Results: In rs4986938 (ESR2 gene), children with CT/TT presented significantly lower odds of MIH than CC (OR=0.57, CI 95% [0.35-0.92]). There was no significant association between MIH and other evaluated genes.

Conclusion: The genetic polymorphism in the ESR gene is associated with MIH, suggesting that MIH etiology presents a polygenetic involvement.

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多基因多态性与磨牙-切牙低矿化之间的关系：一项基于人群的研究。

背景：某些基因存在与磨牙-切牙低矿化（MIH）发病机制相关的变异，特别是编码与形态发生、免疫反应、激素转录和接受相关的牙釉质发育蛋白的基因，表明MIH可能是一个基因-环境问题，多个基因具有小的个体影响。目的：探讨单核苷酸多态性（snp）与MIH的关系。方法：本研究共纳入90例MIH患儿和262例非MIH患儿。经校准的检查人员使用欧洲儿科牙科学会（EAPD）标准和修改的临床检查DDE指数诊断MIH （Kappa≥0.75）。通过实时聚合酶链反应对采集的口腔黏膜细胞IL-6 （rs2069840和rs2069833）、ESR （rs9340799、rs1256049、rs4986938和rs2234693）、VDR （rs739837和rs2228570）和5-HTT基因（rs1042173和rs38133034）的snp进行基因分型。使用卡方检验检验MIH与snp基因型（隐性和显性模型）和等位基因频率之间的相关性。计算比值比（OR）和置信区间（CI）。采用5%的显著性水平。基因型采用Hardy-Weinberg平衡卡方检验。结果：在rs4986938 （ESR2基因）中，CT/TT患儿发生MIH的几率明显低于CC （OR=0.57, CI 95%[0.35-0.92]）。MIH与其他被评估基因之间无显著相关性。结论：ESR基因多态性与MIH相关，提示MIH的病因具有多基因参与。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Applied Oral Science 医学-牙科与口腔外科

CiteScore

4.80

自引率

3.70%

发文量

审稿时长

4-8 weeks

期刊介绍： The Journal of Applied Oral Science is committed in publishing the scientific and technologic advances achieved by the dental community, according to the quality indicators and peer reviewed material, with the objective of assuring its acceptability at the local, regional, national and international levels. The primary goal of The Journal of Applied Oral Science is to publish the outcomes of original investigations as well as invited case reports and invited reviews in the field of Dentistry and related areas.