Family and case–control genetic study of MSX1 polymorphisms in peg-shaped teeth Jordanian population

Abstract

Background 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. Methods 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. Results 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. Conclusions 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.

Characterization of novel MSX1 variants causally associated with non‐syndromic oligodontia in Chinese families

“…Also, we discovered that the majority (50%) of the MSX1 variations were missense variants that were clustered in the HD area on exon 2, confirming the significance of the HD region structure. The findings of our study are in agreement with previous research (Alkhatib et al., 2022; Liang et al., 2016; Zheng et al., 2021).…”

Classification, Symptoms, Diagnosis, and Treatment of Oral Genetic Disorders

“…Additionally, mutations of the MSX1 gene, which is found to be the most common cause of microdontia. However, few genetic studies have shed light on how genes are linked to this condition [45]. According to some reporters, rs8018720 in SEC23A was associated with a third molar microdontia in the co-dominant [40].…”

“…Polymorphisms in the PAX9 gene cause a partial failure of incisor and third molar tooth formation as well as a disruption in dentin genesis differentiation [46]. However, studies are still ongoing on the relationship of genes to microdontia [45].…”