Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid, 22110, Jordan.
Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, 22110, Jordan.
BMC Oral Health. 2022 Jan 22;22(1):16. doi: 10.1186/s12903-022-02051-2.
This study aimed to investigate the genetic association of specific Single Nucleotide Polymorphisms (SNPs) within the muscle segment homeobox gene 1 (MSX1) with susceptibility to the peg-shaped teeth in 36 Jordanian Arab families and case-control samples in the Jordanian Arab population.
This cohort involved 108 individuals (36 trios families), which were used for family-based genetic study. Additionally, 56 patients and 57 controls were used for case-control study. Genomic DNA samples from both families and case-control were extracted according to distinguished processes. Then, polymerase chain reaction technique (PCR) was conducted using specific primers for the axons of the MSX1. Moreover, DNA sequencing genotyping method analysis of SNPs was used to detect specified SNPs in the MSX1 linked with peg-shaped teeth. Hardy-Weinberg Equilibrium and Chi-square were used to evaluate the data quality and the presence of any genotypic error. In addition, Transmission Disequilibrium Test (TDT) was used identify family-based association in which trios of parents and proband are used.
The results of this study showed fourteen polymorphic sites in this gene, eight of them (rs121913129, rs104893852, rs104893853, rs121913130, rs104893850, rs1095, rs3775261, and rs1042484) were none-polymorphic. Meanwhile, the minor allele frequencies of the rest of the SNPs were polymorphic (rs8670, rs12532, rs3821949, rs4464513, rs1907998, and rs6446693). However, none of these SNPs were associated with peg-shaped teeth. Moreover, the haplotype genetic analysis revealed that there was no genetic association with peg-shaped teeth disorder susceptibility (P > 0.05) in the Jordanian families of Arab descent.
The present findings can be used in estimation of prevalence of peg-shaped teeth in the Jordanian population. However, our findings revealed that there is no evidence that the MSX1 polymorphisms had a crucial role in the peg-shaped teeth phenomenon, emphasizing that other genes might have this role. These findings are beneficial for clinicians to comprehensively understand the molecular aspects of teeth abnormalities.
本研究旨在探讨特定单核苷酸多态性（SNP）在肌节同源盒基因 1（MSX1）中的遗传关联，以调查 36 个约旦阿拉伯家庭和约旦阿拉伯人群中的 peg 形牙易感性。
该队列包括 108 名个体（36 个三联体家庭），用于进行基于家庭的遗传研究。此外，56 名患者和 57 名对照用于病例对照研究。根据不同的过程提取来自家庭和病例对照的基因组 DNA 样本。然后，使用特定的 MSX1 轴突引物进行聚合酶链反应（PCR）。此外，使用 DNA 测序基因分型方法分析 MSX1 中与 peg 形牙相关的特定 SNP。哈迪-温伯格平衡和卡方检验用于评估数据质量和任何基因型错误的存在。此外，传递不平衡检验（TDT）用于识别使用父母和先证者的三联体的基于家庭的关联。
本研究结果显示该基因中有 14 个多态性位点，其中 8 个（rs121913129、rs104893852、rs104893853、rs121913130、rs104893850、rs1095、rs3775261 和 rs1042484）是非多态性的。同时，其余 SNP 的次要等位基因频率为多态性（rs8670、rs12532、rs3821949、rs4464513、rs1907998 和 rs6446693）。然而，这些 SNP 均与 peg 形牙无关。此外，单体型遗传分析显示，约旦阿拉伯血统的家族中， peg 形牙紊乱易感性无遗传关联（P>0.05）。
本研究结果可用于估计约旦人群中 peg 形牙的患病率。然而，我们的研究结果表明，MSX1 多态性在 peg 形牙现象中没有重要作用，这表明其他基因可能具有这种作用。这些发现有助于临床医生全面了解牙齿异常的分子方面。
