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This article explores the relationship between genetic variations and dental variations in individuals with and without tooth agenesis. Specifically, the study focuses on the correlation between morphological variations of the upper first permanent molars and genetic variants of the MSX1 gene. The results indicate that individuals without the gene mutation are more likely to have larger Carabelli cusps. Additionally, the study found that Carabelli cusps are more common in men and that men tend to have larger cusps compared to women. This research provides valuable insights into the genetic factors that contribute to dental variations. [Extracted from the article]

(1) Background: Hypodontia has a multifactorial aetiology, in which genetic factors are a major component. Associated with this congenital absence, the formed teeth may show differences in size and shape, which may vary with the specific genetic variants and with the location of the missing teeth. The aims of the present study were to investigate a specific variant of MSX1, derive morphometric tooth measurements in a sample of patients with isolated maxillary lateral incisor agenesis and matched controls, and model the findings. (2) Methods: Genotyping of the MSX1 rs8670 genetic variant and morphometric measurements with a 2D image analysis method were performed for 26 hypodontia patients and 26 matched controls. (3) Results: The risk of upper lateral incisor agenesis was 6.9 times higher when the T allele was present. The morphometric parameters showed significant differences between hypodontia patients and controls and between the unilateral and bilateral agenesis cases. The most affected crown dimension in the hypodontia patients was the bucco-lingual dimension. In crown shape there was significant variation the Carabelli trait in upper first molars. (4) Conclusions: The MSX1 rs8670 variant was associated with variations in morphological outcomes. The new findings for compensatory interactions between the maxillary incisors indicate that epigenetic and environmental factors interact with this genetic variant. A single-level directional complex interactive network model incorporates the variations seen in this study. [ABSTRACT FROM AUTHOR]

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The etiology of hypodontia is complex, in which both genetic and environmental factors can be related. The main objective of our study was to contribute to elucidating the genetic background of nonsyndromic hypodontia (NSH). In this order, we selected 97 NSH subjects (70 females and 27 males) from patients referred to orthodontic treatment, and we matched to each NSH subject a control by age and sex. DNA was obtained from epithelial cells from the oral mucosa. Genotyping of the PAX9 (rs4904155 and rs61754301), MSX1 (rs8670 and rs12532), and AXIN2 (rs2240308) SNPs was performed by using TaqMan SNP Genotyping Assays on a real-time PCR system. Single-nucleotide polymorphisms (SNPs) were studied for the whole NSH group and for frontal and lateral agenesis NSH subjects separately. Our results showed that the variant genotype (p=0.0008, OR = 2.9, 95% CI = 1.58–5.3) and variant T allele (p=0.0002, OR = 2.65, 95% CI = 1.6–4.39) of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population when the whole NSH group was compared with controls. The variant genotype of the MSX1 rs8670 SNP was the most frequent in frontal agenesis; meanwhile in the lateral agenesis NSH group, the AXIN2 rs2240308 SNP showed a higher frequency of the variant genotype, with a trend towards statistical significance. In conclusion, the results of the present study showed that the variant genotype and variant T allele of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population. The presence of the variant A allele of AXIN2 rs2240308 is associated with frontal agenesis but not with lateral agenesis. [ABSTRACT FROM AUTHOR]

Copyright of Hungarian Medical Journal / Orvosi Hetilap is the property of Akademiai Kiado and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective The associations seen clinically between variations in tooth number, size and shape reflect the repetitive genetic interactions occurring between the epithelium and mesenchyme during the initiation and morphogenetic stages of the Complex Adaptive System that is dental development. The aim of this study was to investigate the clinical relationship further by comparing multiple crown parameters, including cusp numbers, between patients with mild hypodontia and controls in a Romanian sample. Design Digital images of dental casts of the permanent dentition from 28 patients with mild hypodontia and 28 controls were used. Measurements from the vestibular and occlusal surfaces were performed using a 2D image analysis method and cusps, including the Carabelli trait, were counted. Two-way analysis of variance was performed. Results The dimensions of the mild hypodontia group had smaller values than the controls, with many measurements being significantly different (significance values varied from p = 0.049 to p = 0.001 ). The most affected regions were the upper and lower anterior region in both sexes. Mesio-distal, bucco-lingual and occlusal area and perimeter dimensions were affected. Females from the hypodontia group had significantly less tricuspidated lower premolars when compared with the control group. Carabelli cusps were present in the hypodontia group less frequently, the difference being highly significant ( p = 0.0002 ) in women. Conclusions The hypodontia patients presented with reduced crown dimensions and shape compared with controls. This is the first published study to demonstrate smaller cusp numbers in patients with hypodontia than in controls. The findings are compatible with a model of dental development as a Complex Adaptive System incorporating associations between tooth number, size and shape. [ABSTRACT FROM AUTHOR]

Objectives. The role was studied of multiple single nucleotide polymorphisms in tooth agenesis in the Hungarian population using a complex approach. Methods. Eight SNPs, PAX9 -912 C/T, PAX9 -1031 A/G, MSX1 3755 A/G, FGFR1 T/C rs881301, IRF6 T/C rs764093, AXIN2-8150 A/G, AXIN2-8434 A/G and AXIN2-30224 C/T, were studied in 192 hypodontia and 17 oligodontia cases and in 260 healthy volunteers. Case-control analysis was performed to test both allelic and genotypic associations as well as associations at the level of haplotypes. Multivariate exploratory Bayesian network-based multi-level analysis of relevance (BN-BMLA) as well as logistic regression analysis were performed. Results. Conventional statistics showed that PAX9 SNP -912 C/T and the MSX1 SNP changed the incidence of hypodontia, although after Bonferroni correction for multiple hypothesis testing, the effects were only borderline tendencies. Using a statistical analysis better suited for handling multiple hypotheses, the BN-BMLA, PAX9 SNPs clearly showed a synergistic effect. This was confirmed by other multivariate analyses and it remained significant after corrections for multiple hypothesis testing ( p < 0.0025). The PAX9-1031-A- PAX9-912-T haplotype was the most relevant combination causing hypodontia. Interaction was weaker between PAX9 and MSX1, while other SNPs had no joint effect on hypodontia. Conclusion. This complex analysis shows the important role of PAX9 and MSX1 SNPs and of their interactions in tooth agenesis, while IRF6, FGFR1 and AXIN2 SNPs had no detectable role in the Hungarian population. These results also reveal that risk factors in hypodontia need to be identified in various populations, since there is considerable variability among them. [ABSTRACT FROM AUTHOR]

The associations seen clinically between variations in tooth number, size and shape reflect the repetitive genetic interactions occurring between the epithelium and mesenchyme during the initiation and morphogenetic stages of dental development. The aim of this study was to investigate this relationship further by comparing multiple crown parameters, including cusp numbers, between patients with mild hypodontia and controls. Digital images of dental casts of the permanent dentition from 28 Romanian subjects with mild hypodontia and 28 controls were used. Measurements of the vestibular and occlusal surfaces were performed using a 2D image analysis method. Seven dimensions were measured (mesio-distal, occluso-gingival, bucco-lingual, vestibular perimeter, vestibular area, occlusal perimeter and occlusal area) and cusps on premolars and first molars were counted. Multivariate analysis of variance was performed using SPSS V17 software. The results showed teeth in the hypodontia group were smaller than those of controls, with many measurements being significantly different (significance values varied from p=0.048 to p=0.0001). Lower first incisors and upper first premolar teeth presented the most reduced dimensions. Mesio-distal, bucco-lingual and occlusal area and perimeter dimensions were the most affected. Upper first molars presented the Carabelli trait in significantly less subjects in the hypodontia group than in controls. This variation was accompanied by a difference in tooth height. Lower premolars showed reduced cusp numbers in hypodontia subjects, accompanied by variation in tooth width or depth. In conclusion, this study demonstrated differences in multiple parameters of crown size and shape in patients with mild hypodontia compared to controls. The degree of these differences varied between different tooth types and dimensions. [ABSTRACT FROM AUTHOR]