Association of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations

Lee, Won‐Chul; Yamaguchi, Tetsutaro; Watanabe, Chiaki; Kawaguchi, Akira; Takeda, Masayuki; Kim, Yong‐Il; Haga, Shugo; Tomoyasu, Yoko; Ishida, Hajime; Maki, Koutaro; Park, Soo‐Byung; Kimura, Ryosuke

doi:10.1038/jhg.2012.90

Cited by 31 publications

(26 citation statements)

References 47 publications

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“…The polymorphism G.5272C>G (rs4904155) was, however, significantly associated with the crown size and shovelling of the upper first incisor. In Asian population, significant differences between the frequencies of rs4904155 polymorphism in controls and patients with hypodontia have been reported …”

Section: Mutations and Polymorphisms In The Pax9 Genementioning

confidence: 99%

PAX9 gene mutations and tooth agenesis: A review

2017

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Paired box 9 (PAX9) is one of the best-known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia. In the present review, we are summarizing all known PAX9 mutations as well as their nature and precise loci in the DNA sequence of the gene. Where necessary, we have revised the loci of the mutations in line with the reference sequence of the PAX9 gene as it appears in the current DNA databases.

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Section: Mutations and Polymorphisms In The Pax9 Genementioning

confidence: 99%

PAX9 gene mutations and tooth agenesis: A review

2017

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“…Such further studies will provide knowledge about the associations between genotypes and phenotypes of malocclusions and dental traits12,13,14; however, a larger number of participants is needed to define the real role of these genes in malocclusions.…”

Section: Discussionmentioning

confidence: 99%

“…Class III malocclusions (negative overjet) have also been the focus of human genetic linkage analyses4,5,6,7 and association studies 8,9,10,11. In addition, several studies have provided increasing evidence for associations between genetic factors and common dental traits, such as tooth size 12,13,14…”

Section: Introductionmentioning

confidence: 99%

The role of polymorphisms associated with early tooth eruption in dental and occlusal traits in East Asian populations

et al. 2014

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ObjectiveA recent study suggested that rs6504340, a polymorphism within the homeobox B (HOXB) gene cluster, is associated with the susceptibility for malocclusions in Europeans. The resulting malocclusions require orthodontic treatment. The aim of this study was to investigate the association of rs6504340 and other dentition-implicated polymorphisms with dental and occlusal traits in Korean and Japanese populations.MethodsThe study participants included 223 unrelated Koreans from the Busan area and 256 unrelated Japanese individuals from the Tokyo metropolitan area. DNA samples were extracted from saliva specimens. Genotyping for rs6504340 and four single nucleotide polymorphisms (SNPs) that have been shown to be associated with the timing of first tooth eruption and the number of teeth at 1 year of age (rs10506525, rs1956529, rs9674544, and rs8079702) was performed using TaqMan assays. The Index of Orthodontic Treatment Need (IOTN), overjet, overbite, arch length discrepancy, crown sizes, and length and width of the dental arches were measured. Spearman's correlation coefficients were calculated to evaluate relationships between rs6504340 and these dental/occlusal traits.ResultsWe evaluated the aesthetic components and dental health components of the IOTN in the Korean and Japanese populations and found that neither rs6504340 nor the other four SNPs showed any association with dental and occlusal traits in these East Asian populations.ConclusionsThese negative results suggest that further research is needed to identify the genetic determinants of malocclusions in order to reach a consensus.

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“…Estudios recientes proporcionan evidencia de la asociación entre los genes EDA y XEDAR y el apiñamiento dental 34 . Diversos estudios han proporcionado evidencia de las asociaciones entre los factores genéticos y los rasgos dentales comunes, como el tamaño de los dientes 35,36 .…”

Section: Síndromes Asociados a La Agenesiaunclassified

Avances en La Genética De La Formación Dental: Una Revisión

2014

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RESUMENEl desarrollo de las estructuras dentarias es el resultado de un complejo proceso de interacciones recíprocas y secuenciales entre células epiteliales y mesenquimáticas. La organogénesis dental está bajo un estricto control genético donde intervienen factores de crecimiento, de transcripción, moléculas de señalización y proteínas que determinan las posiciones, número y forma de los diferentes dientes. El objetivo de esta revisión fue describir los aspectos embriológicos y moleculares de la formación dental y las anomalías asociadas a un defecto en el patrón genético. Se realizó una búsqueda de literatura en PubMed, Dentistry & Oral Sciences Source, Science Direct y Scielo. Se concluye que continúan los avances en genética dental que han permitido entender cómo las alteraciones de diferentes genes, factores reguladores y proteínas son los responsables de diversas anomalías dentales. Los avances en la bioingeniería dental podrán resolver muchos de los interrogantes que hoy tenemos. [Verbel N, Alfaro OA, Torres EA. Avances en la genética de la formación dental: una revisión. Ustasalud. 2014; 13 (2) ADVANCES IN THE GENETICS OF DENTAL DEVELOPMENT: A REVIEW ABSTRACTThe development of dental structures is the result of a complex process of reciprocal and sequential interactions between epithelial and mesenchymal cells. Tooth organogenesis is under strict genetic control, where involved growth factors, transcription factors, signaling molecules and proteins that determine the positions, number and shape of the individual teeth. The objective of this review was to describe the embryological and molecular aspects of dental development and the anomalies associated with a defect in the gene pattern. A literature search was done in databases such as PubMed, Dentistry & Oral Sciences Source, Science Direct and Scielo. We concluded that dental genetics have a steady progress, which involves frequent updating and these advances have allowed to understand how changes in different genes, regulatory factors and proteins are responsible for various dental anomalies. The advances in dental bioengineering can solve many of the questions we have today.Keywords: Genetics, Odontogenesis, Bioengineering, Pathology.Recibido para publicación: 13 de octubre de 2014. Aprobado para publicación: 23 de noviembre de 2014. INTRODUCCIÓNEl desarrollo normal del individuo depende de dos grandes factores. Estos son la regulación genética, definida como la influencia del plan genético establecido en el DNA y en el contenido en los cromosomas y la regulación epigenética, que incluye la influencia de los factores externos que inciden en el desarrollo 1 . Ferraris y Muñoz afirman que las célu-las de la cresta neural emigran hacia el mesodermo de los arcos braquiales para dar origen a componentes esqueléticos, óseos y cartilaginosos que incluyen los componentes de los tejidos conectivos que formarán el complejo pulpodentinario y los tejidos de sostén del diente como el hueso, ligamento periodontal y cemento 2 .En el curso del desarrollo de los órg...

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Association of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations

Cited by 31 publications

References 47 publications

PAX9 gene mutations and tooth agenesis: A review

PAX9 gene mutations and tooth agenesis: A review

The role of polymorphisms associated with early tooth eruption in dental and occlusal traits in East Asian populations

Avances en La Genética De La Formación Dental: Una Revisión

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