title: Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study.
abstract: Tooth agenesis is one of the most common congenital anomalies in humans. However, the etiology of tooth agenesis remains largely unclear, as well as evidence base useful for genetic counseling. Therefore, we estimated the prevalence and sibling recurrence risk, and investigated agenetic patterns systematically. Tooth agenesis was classified into two subtypes: hypodontia (one to five missing teeth) and oligodontia (six or more missing teeth). The prevalence of these two subtypes were 6.8% [95% confidence interval (CI): 6.1-7.7%] and 0.1% (95% CI: 0.04-0.3%), respectively, and sibling recurrence risk of these were 24.5% (95% CI: 13.8-38.3%) and 43.8% (95% CI: 26.4-62.3%), respectively. This result suggests that the severe phenotype, oligodontia, might be mostly transmitted in a dominant fashion. Using a simple statistical modeling approach, our data were found to be consistent with a bilateral symmetry model, meaning that there was equal probability of missing teeth from the right and left sides.
authors.affiliation: Department of Oral and Maxillofacial Surgery, Toyota Memorial Hospital, Toyota, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Machida
authors.affiliation: Department of Public Health, Aichi Medical University School of Medicine, Nagakute, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Nishiyama
authors.affiliation: Laboratory of Biometry and Bioinformatics, Graduate School of Agriculture and Life Sciences, University of Tokyo, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kishino
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University, Nagoya, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University, Nagoya, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kimura
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University, Nagoya, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Shibata
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University, Nagoya, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Tatematsu
authors.affiliation: Department of oral and maxillofacial surgery, Himeji Red Cross Hospital, Himeji, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kamamoto
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University, Nagoya, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yamamoto
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University, Nagoya, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Makino
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University, Nagoya, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Miyachi
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University, Nagoya, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Shimozato
authors.affiliation: Department of Perinatology, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Tokita
mesh_terms: D000293:Adolescent; D000328:Adult; D000848:Anodontia / Q000453:epidemiology* / Q000235:genetics*; D002648:Child; D003710:Demography; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D017720:Molecular Epidemiology; D015995:Prevalence; D014070:Tooth; D055815:Young Adult
keywords: hypodontia; oligodontia; prevalence; sibling recurrence risk; tooth agenesis