Genetics of Dentofacial and Orthodontic Abnormalities

Neela, Praveen Kumar; Atteeri, Anjana; Mamillapalli, Pavan Kumar; Sesham, Vasu Murthy; Keesara, Sreekanth; Chandra, Jaya; Monica, Udayini; Mohan, Vasavi

doi:10.1055/s-0040-1722303

Cited by 11 publications

(10 citation statements)

References 51 publications

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“…PAX9 also provides an important regulatory role during mesenchyme–epithelial interactions within the palatogenesis process by regulating Bmp4, Fgf10, Osr2, and Shh pathways in the developing palatal tissue during embryogenesis [ 11 ]. PAX9 gene mutations have been associated with oligodontia, tooth agenesis, and the development of cleft palate [ 11 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

PAX7, PAX9 and RYK Expression in Cleft Affected Tissue

2021

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Background and Objectives: Cleft lip with or without cleft palate is one of the most common types of congenital malformations. Transcription factors paired box 7 and 9 (PAX7, PAX9) and receptor-like tyrosine kinase (RYK) have been previously associated with the formation of orofacial clefts but their exact possible involvement and interactions in the tissue of specific cleft types remains uncertain. There is a limited number of morphological studies analyzing these specific factors in cleft affected tissue due to ethical aspects and the limited amount of available tissue material. This study analyses the presence of PAX7, PAX9, and RYK immunopositive structures within different cleft affected tissue to assess their possible involvement in cleft morphopathogenesis. Materials and Methods: Cleft affected tissue was collected from non-syndromic orofacial cleft patients during cleft correcting surgery (36 patients with unilateral cleft lip, 13 patients with bilateral cleft lip, 26 patients with isolated cleft palate). Control group oral cavity tissue was obtained from 7 patients without cleft lip and palate. To evaluate the number of immunopositive structures in the cleft affected tissue and the control group, a semiquantitative counting method was used. Non-parametric statistical methods (Kruskal–Wallis H test, Mann–Whitney U test, and Spearman’s rank correlation) were used. Results: Statistically significant differences for the number of PAX7, PAX9, and RYK-positive cells were notified between the controls and the patient groups. Multiple statistically significant correlations between the factors were found in each cleft affected tissue group. Conclusions: PAX7, PAX9, and RYK have a variable involvement and interaction in postnatal morphopathogenesis of orofacial clefts. PAX7 is more associated with the formation of unilateral cleft lip, while PAX9 relates more towards the isolated cleft palate. The stable presence of RYK in all cleft types indicates its possible participation in different facial cleft formations.

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Section: Introductionmentioning

confidence: 99%

PAX7, PAX9 and RYK Expression in Cleft Affected Tissue

2021

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“…In a review article, the role of MYO1H in mandibular prognathism in different populations was reported recently. 36 Future studies with larger sample sizes are required on different races and ethnic groups. Also, other SNPs of this gene should be assessed in future studies to determine its association in the development of mandibular prognathism.…”

Section: Discussionmentioning

confidence: 99%

Analysis of MYO1H Gene Polymorphism in Skeletal Class-III Malocclusion Due to Mandibular Prognathism

et al. 2021

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Background Mandibular prognathism (MP) is a craniofacial deformity resulting from the combined effects of environmental and genetic factors. Although various linkage and genome-wide association studies for mandibular prognathism have identified multiple strongly associated regions and genes, the causal genes and variants responsible for the deformity remained ambiguous. Aim This research work was aimed to study the association between polymorphism rs10850110 of the MYO1H gene and skeletal class-III malocclusion in our local population. Materials and Methods Thirty patients with skeletal class III due to mandibular prognathism in the study group and 30 patients with skeletal class I in the control group were selected for this study. These patients were from both sexes and above age 10 years. Based on the cephalometric values, patients were categorized into study and control groups. SNB (angle between sella, nasion and point B at nasion) greater than 82 degrees with an ANB (angle between point A, nasion and point B at nasion) of less than 0 degrees in the study group and ANB (angle between point A, nasion and point B at nasion) of 2 to 4 degrees in the control group were categorized. The polymorphism (rs10850110) of the MYO1H gene was genotyped using polymerase chain reaction and restriction fragment length polymorphism. Associations were tested with SNP exact test using SNPstats software. Results The single-nucleotide polymorphism rs10850110 showed a statistically significant association with mandibular prognathism. The G allele of marker rs10850110 (5′ of myosin1H - MYO1H) was overrepresented when compared with the “A” allele in mandibular prognathism cases (p < 0.0001), and this was very significant. Conclusion These results suggest that the rs10850110 polymorphism of the MYO1H gene is associated with an increased risk for mandibular prognathism.

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“…This condition can adversely affect oral health, impairing eating, speaking, and the maintenance of good oral hygiene. Moreover, malocclusion can influence appearance, diminishing self-confidence and self-esteem [1]. The causes of malocclusion are multifactorial and intricate, involving genetic, environmental, and developmental factors [1].…”

Section: Introductionmentioning

confidence: 99%

“…Moreover, malocclusion can influence appearance, diminishing self-confidence and self-esteem [1]. The causes of malocclusion are multifactorial and intricate, involving genetic, environmental, and developmental factors [1]. Dental research has made significant progress in understanding the molecular mechanisms underlying malocclusion, particularly through exploring genetics and genomics.…”

Section: Introductionmentioning

confidence: 99%

Anterior Open Bite Malocclusion: From Clinical Treatment Strategies towards the Dissection of the Genetic Bases of the Disease Using Human and Collaborative Cross Mice Cohorts

Lone,

Zohud,

Midlej

et al. 2023

JPM

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Anterior open bite malocclusion is a complex dental condition characterized by a lack of contact or overlap between the upper and lower front teeth. It can lead to difficulties with speech, chewing, and biting. Its etiology is multifactorial, involving a combination of genetic, environmental, and developmental factors. Genetic studies have identified specific genes and signaling pathways involved in jaw growth, tooth eruption, and dental occlusion that may contribute to open bite development. Understanding the genetic and epigenetic factors contributing to skeletal open bite is crucial for developing effective prevention and treatment strategies. A thorough manual search was undertaken along with searches on PubMed, Scopus, Science Direct, and Web of Science for relevant studies published before June 2022. RCTs (clinical trials) and subsequent observational studies comprised the included studies. Orthodontic treatment is the primary approach for managing open bites, often involving braces, clear aligners, or other orthodontic appliances. In addition to orthodontic interventions, adjuvant therapies such as speech therapy and/or physiotherapy may be necessary. In some cases, surgical interventions may be necessary to correct underlying skeletal issues. Advancements in technology, such as 3D printing and computer-assisted design and manufacturing, have improved treatment precision and efficiency. Genetic research using animal models, such as the Collaborative Cross mouse population, offers insights into the genetic components of open bite and potential therapeutic targets. Identifying the underlying genetic factors and understanding their mechanisms can lead to the development of more precise treatments and preventive strategies for open bite. Here, we propose to perform human research using mouse models to generate debatable results. We anticipate that a genome-wide association study (GWAS) search for significant genes and their modifiers, an epigenetics-wide association study (EWAS), RNA-seq analysis, the integration of GWAS and expression-quantitative trait loci (eQTL), and micro-, small-, and long noncoding RNA analysis in tissues associated with open bite in humans and mice will uncover novel genes and genetic factors influencing this phenotype.

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Genetics of Dentofacial and Orthodontic Abnormalities

Cited by 11 publications

References 51 publications

PAX7, PAX9 and RYK Expression in Cleft Affected Tissue

PAX7, PAX9 and RYK Expression in Cleft Affected Tissue

Analysis of MYO1H Gene Polymorphism in Skeletal Class-III Malocclusion Due to Mandibular Prognathism

Anterior Open Bite Malocclusion: From Clinical Treatment Strategies towards the Dissection of the Genetic Bases of the Disease Using Human and Collaborative Cross Mice Cohorts

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