Genetic factors have been proved to be involved in almost all dental and craniomaxillofacial diseases. Typical dental and craniomaxillofacial hereditary diseases refer to hereditary diseases which occurs in the oral and maxillofacial area, as well as systemic or other system hereditary diseases accompanied by oral abnormality. The former includes enamel hypoplasia, dentin hypoplasia and cleft lip and palate, which mainly occur in the oral cavity. While the latter commonly includes cranial clavicle hypoplasia, congenital ectodermal hypoplasia, osteogenesis imperfecta, and osteosclerosis. In addition, common diseases that appear locally in the oral cavity, including caries, periodontitis, oral mucosal diseases and head and neck tumors, are also considered to be related to genetic variations.
With the increase of large-scale genome-wide association analysis study (GWAS) during the last decade, common loci for many genetic diseases have been identified. To date, most evidence comes from GWAS of dental caries and periodontal disease, which have tested associations between millions of single nucleotide polymorphisms (SNPs) and typical binary phenotypes. However, genetic loci for other rare oral diseases remain to be studied due to their large variety and low incidence. Multi-omics sequencing technology provides a more powerful tool for identifying the pathogenic genes of dental and craniomaxillofacial hereditary diseases at genomic, transcriptomic and proteomic level. In addition, with the development of single-cell multi-omics technology, specific cell populations involved in the pathogenesis of dental and craniomaxillofacial hereditary disease can be more accurately identified at single-cell resolution.
In addition to genetic variation, environmental factors such as oral microbiome, smoking and drinking can also affect local gene expression. The gene expression changes of non-genetic variation are usually caused by epigenetic modification, such as DNA methylation, RNA methylation and histone modifications. Alterations in epigenetic modifications have been observed in a variety of oral diseases. Therefore, epigenetic analysis of oral diseases can provide another important aspect of evidence in addition to genetic factors to explore its pathogenesis.
Rapid advances in genomics, epigenomics, and transcriptomic technologies have enabled the identification of causal relationships between defects in genetic and epigenetic regulatory networks and specific pathological mechanisms of dental and craniomaxillofacial hereditary diseases. We welcome original research articles and reviews from researchers in the field covering any aspect of genetics and epigenetics in dental and craniomaxillofacial biology. We would like to welcome Original Research, Clinical trials, Review, Systematic Reviews, Mini-Review and Hypotheses that are related to, but are not limited to the following subtopics:
1) The role of specific genes in dental and craniomaxillofacial tissue development and disease progression.
2) Multi-omics analysis to explore the gene regulatory network in dental and craniomaxillofacial diseases.
3) Genome-wide association analysis study of dental and craniomaxillofacial hereditary diseases.
4) Single-cell RNA sequencing study in dental and craniomaxillofacial diseases.
5) Interactions between genetics and epigenetics in the progression of dental and craniomaxillofacial diseases.
Genetic factors have been proved to be involved in almost all dental and craniomaxillofacial diseases. Typical dental and craniomaxillofacial hereditary diseases refer to hereditary diseases which occurs in the oral and maxillofacial area, as well as systemic or other system hereditary diseases accompanied by oral abnormality. The former includes enamel hypoplasia, dentin hypoplasia and cleft lip and palate, which mainly occur in the oral cavity. While the latter commonly includes cranial clavicle hypoplasia, congenital ectodermal hypoplasia, osteogenesis imperfecta, and osteosclerosis. In addition, common diseases that appear locally in the oral cavity, including caries, periodontitis, oral mucosal diseases and head and neck tumors, are also considered to be related to genetic variations.
With the increase of large-scale genome-wide association analysis study (GWAS) during the last decade, common loci for many genetic diseases have been identified. To date, most evidence comes from GWAS of dental caries and periodontal disease, which have tested associations between millions of single nucleotide polymorphisms (SNPs) and typical binary phenotypes. However, genetic loci for other rare oral diseases remain to be studied due to their large variety and low incidence. Multi-omics sequencing technology provides a more powerful tool for identifying the pathogenic genes of dental and craniomaxillofacial hereditary diseases at genomic, transcriptomic and proteomic level. In addition, with the development of single-cell multi-omics technology, specific cell populations involved in the pathogenesis of dental and craniomaxillofacial hereditary disease can be more accurately identified at single-cell resolution.
In addition to genetic variation, environmental factors such as oral microbiome, smoking and drinking can also affect local gene expression. The gene expression changes of non-genetic variation are usually caused by epigenetic modification, such as DNA methylation, RNA methylation and histone modifications. Alterations in epigenetic modifications have been observed in a variety of oral diseases. Therefore, epigenetic analysis of oral diseases can provide another important aspect of evidence in addition to genetic factors to explore its pathogenesis.
Rapid advances in genomics, epigenomics, and transcriptomic technologies have enabled the identification of causal relationships between defects in genetic and epigenetic regulatory networks and specific pathological mechanisms of dental and craniomaxillofacial hereditary diseases. We welcome original research articles and reviews from researchers in the field covering any aspect of genetics and epigenetics in dental and craniomaxillofacial biology. We would like to welcome Original Research, Clinical trials, Review, Systematic Reviews, Mini-Review and Hypotheses that are related to, but are not limited to the following subtopics:
1) The role of specific genes in dental and craniomaxillofacial tissue development and disease progression.
2) Multi-omics analysis to explore the gene regulatory network in dental and craniomaxillofacial diseases.
3) Genome-wide association analysis study of dental and craniomaxillofacial hereditary diseases.
4) Single-cell RNA sequencing study in dental and craniomaxillofacial diseases.
5) Interactions between genetics and epigenetics in the progression of dental and craniomaxillofacial diseases.