Milona Marta, Ciechanowicz Andrzej, Węsierska Karolina, Gońda-Domin Magda, Zawiślak Alicja, Jarząbek Anna, Sobalska-Kwapis Marta, Jarczak Justyna, Gruszka Renata, Strapagiel Dominik, Janiszewska-Olszowska Joanna, Grocholewicz Katarzyna
Department of Hygiene and Epidemiology, Pomeranian Medical University, 70-111 Szczecin, Poland.
Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, 70-111 Szczecin, Poland.
J Clin Med. 2024 Feb 1;13(3):857. doi: 10.3390/jcm13030857.
Molar incisor hypomineralization (MIH) is a qualitative, demarcated enamel defect of hypomineralization affecting one to four first permanent molars, often with incisor involvement. Its etiology is complex. However, evidence suggests the influence of genetic factors, potentially including the single nucleotide polymorphisms (SNPs) rs2889956, rs4811117 and rs13058467, which were previously linked to MIH in a genome-wide association study of German children. The aim was to replicate analyses of possible associations between the SNPs and molar incisor hypomineralization in Polish children.
The final study group consisted of 778 children aged 126-168 months old. Saliva samples were taken, and genomic DNA was extracted and genotyped using beadchip microarrays.
Among the 778 subjects, there were 68 (8.7%) subjects with MIH and 710 (91.3%) subjects without MIH. There were no significant differences in distributions in age, sex, or the frequency of caries in permanent dentition between the MIH and non-MIH groups. The rs2889956, rs4811117, and rs13058467 genotype distributions in the studied group conformed to the expected Hardy-Weinberg equilibria, and there were no significant differences in the distributions of their alleles or genotypes between the MIH and non-MIH groups.
Our replication study did not confirm highly significant associations between the single nucleotide polymorphisms rs2889956, rs4811117, and rs13058467 with molar incisor hypomineralization in Polish children.
磨牙症伴切牙矿化不全(MIH)是一种定性的、界限分明的牙釉质矿化不全缺陷,影响一至四颗第一恒磨牙,常累及切牙。其病因复杂。然而,有证据表明遗传因素的影响,可能包括单核苷酸多态性(SNP)rs2889956、rs4811117和rs13058467,在一项针对德国儿童的全基因组关联研究中,这些多态性先前与MIH有关。目的是重复分析这些SNP与波兰儿童磨牙症伴切牙矿化不全之间可能存在的关联。
最终研究组由778名年龄在126 - 168个月的儿童组成。采集唾液样本,提取基因组DNA并使用基因芯片微阵列进行基因分型。
在778名受试者中,有68名(8.7%)患有MIH,710名(91.3%)未患MIH。MIH组和非MIH组在年龄、性别或恒牙列龋齿发生率的分布上无显著差异。研究组中rs2889956、rs4811117和rs13058467的基因型分布符合预期的哈迪-温伯格平衡,MIH组和非MIH组之间其等位基因或基因型的分布无显著差异。
我们的重复研究未证实单核苷酸多态性rs2889956、rs4811117和rs13058467与波兰儿童磨牙症伴切牙矿化不全之间存在高度显著的关联。