Mini-Review of the Kamijo Grant Prize Lecture, 2011 : Genome Analysis for Elucidation of Genetic Factors in Orofacial Traits and Diseases

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  • Genome Analysis for Elucidation of Genetic Factors in Orofacial Traits and Diseases

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Many pathological and physiological traits of the craniofacial region are inheritable. We have investigated the genetic basis underpinning certain aspects of craniofacial development and of specific pathological conditions that lead to malocclusion. A better understanding of normal and pathologic processes will give us an enhanced ability to diagnose and resolve problems. We have found in two separate families that primary failure of tooth eruption (PFE), a rare autosomal dominant disorder, is the result of a variants of the type 1 parathyroid hormone receptor (PTH1R). This receptor coordinates tooth eruption by regulating osteoclastogenesis via the release of receptor activator of nuclear factor-κB ligand (RANKL) from periodontal ligament cells. It is discussed the evidence for genetic traits in normal craniomaxillofacial morphology and in prognathism, by using genetic testing to identify patients at risk of mandibular growth abnormalities and to facilitate early and effective diagnosis of their treatment needs. It is also briefly discuss evidence for genetic determination of tooth morphology, notably the role of the ectodysplasin A receptor (EDAR) gene in the development of ‘shovel-shaped’ incisors in certain populations, including Japanese. The advent of genome-wide association studies has enabled us to explore the genetic basis of development in the orofacial region, and patients are increasingly positive about the role of genetics in improving the predictability of orthodontic diagnosis and treatment. Therefore, genetics taking a predominant role in orthodontics in the near future is envisaged.

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