Kühnisch Jan, Thiering Elisabeth, Heitmüller Daniela, Tiesler Carla M T, Grallert Harald, Heinrich-Weltzien Roswitha, Hickel Reinhard, Heinrich Joachim
Department of Conservative Dentistry and Periodontology, School of Dentistry, Ludwig-Maximilians University of Munich, Goethestraße70, Munich, 80336, Germany,
Clin Oral Investig. 2014;18(2):677-82. doi: 10.1007/s00784-013-1054-8. Epub 2013 Aug 7.
This genome-wide association study (GWAS) investigated the relationship between molar-incisor hypomineralization (MIH) and possible genetic loci. Clinical and genetic data from the 10-year follow-up of 668 children from the Munich GINI-plus and LISA-plus birth cohort studies were analyzed.
The dental examinations included the diagnosis of MIH according to the criteria of the European Academy of Paediatric Dentistry (EAPD). Children with MIH were categorized as those with a minimum of one hypomineralized first permanent molar. A GWAS was implemented following a quality-control step and an additive genetic effect was assumed.
A total of 2,013,491 single-nucleotide polymorphisms (SNPs) were available for analysis. Rs13058467, which is located near the SCUBE1 gene on chromosome 22 (p < 3.72E-7), was identified as a possible locus linked to MIH when using a threshold of p value <1E-6.
After considering the limitations of the present study (e.g., limited sample size and lack of an independent replication sample), it can be concluded that (1) replication analyses in an independent cohort study are strongly recommended and (2) large-scale and well-powered studies are needed to investigate a possible genetic link to MIH.
本全基因组关联研究（GWAS）调查了磨牙-切牙矿化不全（MIH）与可能的基因位点之间的关系。分析了来自慕尼黑GINI-plus和LISA-plus出生队列研究的668名儿童10年随访的临床和遗传数据。
牙科检查包括根据欧洲儿童牙科学会（EAPD）的标准诊断MIH。患有MIH的儿童被分类为至少有一颗矿化不全的第一恒磨牙的儿童。在进行质量控制步骤后实施GWAS，并假定为加性遗传效应。
共有2,013,491个单核苷酸多态性（SNP）可用于分析。当使用p值<1E-6的阈值时，位于22号染色体上SCUBE1基因附近的Rs13058467被确定为与MIH相关的一个可能位点。
在考虑本研究的局限性（例如样本量有限和缺乏独立重复样本）后，可以得出以下结论：（1）强烈建议在独立队列研究中进行重复分析；（2）需要大规模且有充分效力的研究来调查与MIH可能的遗传联系。
