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Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development

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A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 25 June 2025 | Viewed by 24096

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Special Issue Editor

Dr. Alan H. Brook

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Guest Editor

1. Adelaide Dental School, Adelaide, Australia
2. Barts & London Dentistry Institute, Queen Mary University of London, London, UK
Interests: dental development; genetics; epigenetics; complex adaptive systems; interactive networks

Special Issue Information

Dear Colleagues,

Our topic is a dynamic and expanding field of research. Dentition is a key component of the stomatognathic complex. Its development involves interactions between genetic, epigenetic and environmental factors. This process gives rise to an emerging phenotype with variations and pathologies of the teeth and surrounding tissues.

AIMS and SCOPE

Our aim is to produce a seminal Special Issue and eBook which critically review current knowledge, add substantial new research findings, advance modelling to increase understanding and provide a stimulus for new research.

BACKGROUND

Some 300 genes have been identified in animal models, and mutations of some key genes in humans have been identified. These genes interact reiteratively between epithelial and mesenchymal tissues during the cascade of dental development. A number of models have been developed to enhance our understanding of this process. One group of models build from genetic knowledge to produce a phenotype, while the second group uses the equally valuable approach of investigating the varying phenotypes in detail and relating findings to the genotype.

A further productive approach has been to apply concepts of the new sciences of complexity and networks. It has been shown that the development of dentition is a complex adaptive system and that genetic, epigenetic and environmental factors are involved in complex interactive networks.

HISTORY

Previous reviews, Special Issues and books have charted the progress made in this dynamic and expanding field. That genes play a major role in dental development has been demonstrated in animal studies and in human twin and family heritability studies. Other investigations have shown that epigenetic and environmental factors interact with genes in the multifactorial, complex adaptive system that is dental development.

CUTTING-EDGE RESEARCH

Research into the many aspects of dental development is being undertaken in many centers around the world. Dentition is an attractive, accessible and relevant paradigm for many biological disciplines. Therefore, current research is spread across many facets of the genetics of dental development, from identifying new mutations and their multiple effects to chromosomal and hormonal epigenetic factors and major environmental agents, all of which interact with genes. Papers from all of these areas are welcome and will contribute to producing a valuable Special Issue.

Dr. Alan H. Brook
Guest Editor

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Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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Keywords

dental development
genetics
epigenetics
complex adaptive systems
interactive networks

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Published Papers (8 papers)

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Research

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10 pages, 263 KiB

Open AccessArticle

Association of GSTTI, M1 and Polymorphism in GSTPI with Chronic Periodontal Disease in a Pakistani Population

by Kainat Arshad, Uzma Ishfaq, Muhammad Asif, Atif Akbar, Kehkashan Fatima Pitafi, Muhammad Rehan Mulghani, Uzman Shaheen, Suleman Saeed, Muhammad Arif, Ahsan Bashir, Muhammad Farooq, Alan Henry Brook and Furhan Iqbal

Genes 2023, 14(2), 455; https://doi.org/10.3390/genes14020455 - 10 Feb 2023

Cited by 2 | Viewed by 1980

Abstract

Objective: Chronic periodontal disease (CP) is a multifactorial infectious and inflammatory disease that occurs due to the challenge between the immune response of the host and specific periodontal bacteria, and that can lead to tooth loss due to damage inflicted to the supporting tissue. The current study investigates the genotypes of the GSTM1 and GSTT1 genes, along with the allelic frequency of the single nucleotide polymorphism [SNP; rs1695] in the GSTP1 gene and correlates them individually or in various combinations with the incidence of CP. Methods: A total of 203 clinically confirmed CP patients and 201 control subjects were enrolled from Multan and Dera Ghazi Khan Districts in Pakistan from April to July 2022. Multiplex Polymerase Chain Reaction (PCR) and tetra-primer amplification refractory mutation system–polymerase chain reaction (T-ARMS–PCR) approaches were applied to determine the genotypes of the studied GSTs. The association of rs1695 in GSTP1 with CP was studied both individually and in various combinations with GSTM1 and T1. Results: The absence of GSTM1, the presence of GSTT1 and the presence of the mutant allele (G) at rs1695 in GSTP1 were found to be significantly associated with CP. Patients aged between 10 and 30 years were more affected by CP. Conclusion: Our results indicate that the genotypes of the analyzed GSTs affect the levels of protection from oxidative stress and may therefore influence the disease progression in CP. Full article

(This article belongs to the Special Issue Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development)

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13 pages, 1381 KiB

Open AccessEditor’s ChoiceArticle

Genetic and Morphological Variation in Hypodontia of Maxillary Lateral Incisors

by Bernadette Kerekes-Máthé, Krisztina Mártha, Claudia Bănescu, Matthew Brook O’Donnell and Alan H. Brook

Genes 2023, 14(1), 231; https://doi.org/10.3390/genes14010231 - 16 Jan 2023

Cited by 6 | Viewed by 2766

Abstract

(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. Full article

(This article belongs to the Special Issue Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development)

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12 pages, 2104 KiB

Open AccessArticle

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

by Piranit Kantaputra, Prapai Dejkhamron, Rekwan Sittiwangkul, Kamornwan Katanyuwong, Chumpol Ngamphiw, Nuntigar Sonsuwan, Worrachet Intachai, Sissades Tongsima, Philip L. Beales and Worakanya Buranaphatthana

Genes 2023, 14(1), 84; https://doi.org/10.3390/genes14010084 - 27 Dec 2022

Cited by 3 | Viewed by 3762

Abstract

Objective: To investigate dental anomalies and the molecular etiology of a patient with Ellis–van Creveld syndrome and two patients with Bardet–Biedl syndrome, two examples of ciliopathies. Patients and Methods: Clinical examination, radiographic evaluation, whole exome sequencing, and Sanger direct sequencing were performed. Results: Patient 1 had Ellis–van Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula, the feature found only in patients with mutations in ciliary genes. A novel homozygous mutation in EVC2 (c.703G>C; p.Ala235Pro) was identified. Patient 2 had Bardet–Biedl syndrome with a homozygous frameshift mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7. Patient 3 had Bardet–Biedl syndrome and carried a heterozygous mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7 and a homozygous mutation in BBS2 (c.209G>A; p.Ser70Asn). Her clinical findings included global developmental delay, disproportionate short stature, myopia, retinitis pigmentosa, obesity, pyometra with vaginal atresia, bilateral hydronephrosis with ureteropelvic junction obstruction, bilateral genu valgus, post-axial polydactyly feet, and small and thin fingernails and toenails, tooth agenesis, microdontia, taurodontism, and impaired dentin formation. Conclusions: EVC2, BBS2, and BBS7 mutations found in our patients were implicated in malformation syndromes with dental anomalies including tooth agenesis, microdontia, taurodontism, and impaired dentin formation. Full article

(This article belongs to the Special Issue Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development)

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14 pages, 3135 KiB

Open AccessArticle

Genetic, Epigenetic and Environmental Factors Influence the Phenotype of Tooth Number, Size and Shape: Anterior Maxillary Supernumeraries and the Morphology of Mandibular Incisors

by Khaled Khalaf, Alan Henry Brook and Richard Nigel Smith

Genes 2022, 13(12), 2232; https://doi.org/10.3390/genes13122232 - 28 Nov 2022

Cited by 6 | Viewed by 2170

Abstract

The aim of this study is to investigate whether the genetic, epigenetic and environmental factors that give rise to supernumeraries in the maxillary incisor region and larger dimensions of the adjacent maxillary incisors are also associated with variations in the morphology of the mandibular incisors. If so, this would contribute to understanding the distribution and interactions of factors during dental development and how these can be modelled. The sample consisted of 34 patients with supernumerary teeth in the maxillary anterior region, matched for gender, age and White Caucasian ethnicity with 34 control subjects. The average ages of the supernumerary and control groups were 12.8 and 12.2 years, respectively. Study models of all subjects were constructed and imaged using a previously validated system. Using custom software, each of the mandibular incisor teeth were measured to obtain 17 parameters from the labial view and 17 from the occlusal view. Principal component analysis (PCA) was used to summarize the measurements into a smaller set representing distinct features of the clinical crowns, followed by a comparison between the supernumerary and control groups using 2-way ANOVA. Seven factors of tooth size of the mandibular central incisors and six factors of the mandibular lateral incisors were identified as major features of the clinical crowns. All parameters of both mandibular incisors were greater in the supernumerary group than in the control, with three of these, located in the incisal and cervical regions of the mandibular lateral incisors, being statistically significantly larger. The findings of this study indicate that the aetiological factors associated with supernumerary teeth in the maxillary anterior region also affect tooth crown dimensions of mandibular incisors. This new evidence enhances several models of the interactions of genetic, epigenetic and environmental components of dental development and supports a multi-model approach to increase understanding of this process and its variations. Full article

(This article belongs to the Special Issue Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development)

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11 pages, 4679 KiB

Open AccessArticle

Tooth Formation as Experimental Model to Study Chemotherapy on Tissue Development: Effect of a Specific Dose of Temozolomide/Veliparib

by Sali Al-Ansari, Rozita Jalali, Antonius L. J. J. Bronckers, Olaf van Tellingen, Judith Raber-Durlacher, Nasser Nadjmi, Alan Henry Brook, Jan de Lange and Frederik R. Rozema

Genes 2022, 13(7), 1198; https://doi.org/10.3390/genes13071198 - 4 Jul 2022

Cited by 1 | Viewed by 2300

Abstract

Background: Chemotherapy treatment of cancer in children can influence formation of normal tissues, leading to irreversible changes in their structure and function. Tooth formation is susceptible to several types of chemotherapy that induce irreversible changes in the structure of enamel, dentin and dental root morphology. These changes can make the teeth more prone to fracture or to caries when they have erupted. Recent studies report successful treatment of brain tumors with the alkylating drug temozolomide (TMZ) in combination with veliparib (VLP) in a glioblastoma in vivo mouse model. Whether these drugs also affect tooth formation is unknown. Aim: In this study the effect of TMZ/VLP on incisor formation was investigated in tissue sections of jaws from mice and compared with mice not treated with these drugs. Materials and method: The following aspects were studied using immunohistochemistry of specific protein markers including: (1) proliferation (by protein expression of proliferation marker Ki67) (2) a protein involved in paracellular ion transport (expression of tight junction (TJ) protein claudin-1) and (3) in transcellular passage of ions across the dental epithelium (expression of Na+, K+ 2Cl- cotransporter/NKCC1). Results: Chemotherapy with TMZ/VLP strongly reduced immunostaining for claudin-1 in distal parts of maturation ameloblasts. No gross changes were found in the treated mice, either in cell proliferation in the dental epithelium at the cervical loop or in the immunostaining pattern for NKCC1 in (non-ameloblastic) dental epithelium. The salivary glands in the treated mice contained strongly reduced immunostaining for NKCC1 in the basolateral membranes of acinar cells. Discussion/Conclusions: Based on the reduction of claudin-1 immunostaining in ameloblasts, TMZ/VLP may potentially influence forming enamel by changes in the structure of TJs structures in maturation ameloblasts, structures that are crucial for the selective passage of ions through the intercellular space between neighboring ameloblasts. The strongly reduced basolateral NKCC1 staining seen in fully-grown salivary glands of TMZ/VLP-treated mice suggests that TMZ/VLF could also influence ion transport in adult saliva by the salivary gland epithelium. This may cause treated children to be more susceptible to caries. Full article

(This article belongs to the Special Issue Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development)

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18 pages, 1505 KiB

Open AccessArticle

Genetic Correlation, Pleiotropy, and Molar Morphology in a Longitudinal Sample of Australian Twins and Families

by Kathleen S. Paul, Christopher M. Stojanowski, Toby Hughes, Alan H. Brook and Grant C. Townsend

Genes 2022, 13(6), 996; https://doi.org/10.3390/genes13060996 - 2 Jun 2022

Cited by 9 | Viewed by 2331

Abstract

This study aims to expand our understanding of the genetic architecture of crown morphology in the human diphyodont dentition. Here, we present bivariate genetic correlation estimates for deciduous and permanent molar traits and evaluate the patterns of pleiotropy within (e.g., m1–m2) and between (e.g., m2–M1) dentitions. Morphology was observed and scored from dental models representing participants of an Australian twin and family study (deciduous n = 290, permanent n = 339). Data collection followed Arizona State University Dental Anthropology System standards. Genetic correlation estimates were generated using maximum likelihood variance components analysis in SOLAR v.8.1.1. Approximately 23% of deciduous variance components models and 30% of permanent variance components models yielded significant genetic correlation estimates. By comparison, over half (56%) of deciduous–permanent homologues (e.g., m² hypocone–M¹ hypocone) were significantly genetically correlated. It is generally assumed that the deciduous and permanent molars represent members of a meristic molar field emerging from the primary dental lamina. However, stronger genetic integration among m2–M1/M2 homologues than among paired deciduous traits suggests the m2 represents the anterior-most member of a “true” molar field. The results indicate genetic factors act at distinct points throughout development to generate homologous molar form, starting with the m2, which is later replaced by a permanent premolariform crown. Full article

(This article belongs to the Special Issue Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development)

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Review

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20 pages, 684 KiB

Open AccessReview

Enamel Phenotypes: Genetic and Environmental Determinants

by John Timothy Wright

Genes 2023, 14(3), 545; https://doi.org/10.3390/genes14030545 - 22 Feb 2023

Cited by 18 | Viewed by 7008

Abstract

Dental enamel is a specialized tissue that has adapted over millions of years of evolution to enhance the survival of a variety of species. In humans, enamel evolved to form the exterior protective layer for the crown of the exposed tooth crown. Its unique composition, structure, physical properties and attachment to the underlying dentin tissue allow it to be a resilient, although not self-repairing, tissue. The process of enamel formation, known as amelogenesis, involves epithelial-derived cells called ameloblasts that secrete a unique extracellular matrix that influences the structure of the mineralizing enamel crystallites. There are over 115 known genetic conditions affecting amelogenesis that are associated with enamel phenotypes characterized by either a reduction of enamel amount and or mineralization. Amelogenesis involves many processes that are sensitive to perturbation and can be altered by numerous environmental stressors. Genetics, epigenetics, and environment factors can influence enamel formation and play a role in resistance/risk for developmental defects and the complex disease, dental caries. Understanding why and how enamel is affected and the enamel phenotypes seen clinically support diagnostics, prognosis prediction, and the selection of treatment approaches that are appropriate for the specific tissue defects (e.g., deficient amount, decreased mineral, reduced insulation and hypersensitivity). The current level of knowledge regarding the heritable enamel defects is sufficient to develop a new classification system and consensus nosology that effectively communicate the mode of inheritance, molecular defect/pathway, and the functional aberration and resulting enamel phenotype. Full article

(This article belongs to the Special Issue Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development)

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Other

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12 pages, 14712 KiB

Open AccessBrief Report

Targeted Genetic Education in Dentistry in the Era of Genomics

by Farah Asa’ad, Anne Nørremølle, Qalbi Khan, Lena Larsson, Niels Tommerup, Nuno Vibe Hermann and Asli Silahtaroglu

Genes 2024, 15(12), 1499; https://doi.org/10.3390/genes15121499 - 22 Nov 2024

Viewed by 306

Abstract

Background: The growing body of knowledge on the human genome and its variants points towards the significance of genetic factors in oral health and disease. Since the dental curricula have historically prioritized clinically oriented subjects, this focus has resulted in insufficient coverage of genetics. To leverage this knowledge in patient care, dental education must equip students with an understanding of the principles of genetics. Method: We have established “Genetic Educators Network in Dentistry” (GEN-Dent) to identify common concerns regarding genetics in dental education and work for a greater emphasis on genetics in future dental programs to make sure that professionals in dentistry are well-prepared to navigate the complexities of the evolving “human genome era”. Results: Here, GEN-Dent proposes specific learning goals for medical genetics in dentistry and provides supporting teaching material addressing each learning goal. The five life-like case studies exemplify different dental conditions and introduce important concepts of genetics, inspiring other educators. Conclusions: Opportunities in Scandinavian countries can be an advantage in increasing global awareness of the importance of genetics in dentistry. The integration of genetics into dental education not only aims to improve patient care but also seeks to inspire a new generation of basic scientists with clinical backgrounds in dentistry. We expect that using life-like patient cases will significantly motivate dental students when learning medical genetics. Full article

(This article belongs to the Special Issue Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development)

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