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Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis

Vieira, AR and Modesto, A and Meira, R and Barbosa, ARS and Lidral, AC and Murray, JC (2007) Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. American Journal of Medical Genetics, Part A, 143 (6). 538 - 545. ISSN 1552-4825

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Phenotypic characteristics expressed in syndromes give clues to the factors involved in the cause of isolated forms of the same defects. We investigated two genes responsible for craniofacial syndromes, FGFR1 and IRF6, in a collection of families with isolated tooth agenesis. Cheek swab samples were obtained for DNA analysis from 116 case/parent trios. Probands had at least one developmentally missing tooth, excluding third molars. In addition, we studied 89 cases and 50 controls from Ohio to replicate any positive findings. Genotyping was performed by kinetic polymerase chain-reaction or TaqMan assays. Linkage disequilibrium analysis and transmission distortion of the marker alleles were performed. The same variants in the IRF6 gene that are associated with isolated orofacial clefts are also associated with human tooth agenesis (rs861019, P = 0.058; rs17015215-V2741, P = 0.0006; rs7802, P = 0.004). Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. The craniofacial phenotypic characteristics of these syndromes include oral clefts and preferential tooth agenesis of incisors and premolars, besides pits on the lower lips. Also it appears that preferential premolar agenesis is associated with FGPR1 (P = 0.014) and IRF6 (P = 0.002) markers. There were statistically significant data suggesting that IRF6 interacts not only with MSX1 (P = 0.001), but also with TGFA (P = 0.03). © 2007 Wiley-Liss, Inc.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Vieira, ARarv11@pitt.eduARV11
Modesto, A
Meira, R
Barbosa, ARS
Lidral, AC
Murray, JC
Date: 15 March 2007
Date Type: Publication
Journal or Publication Title: American Journal of Medical Genetics, Part A
Volume: 143
Number: 6
Page Range: 538 - 545
DOI or Unique Handle: 10.1002/ajmg.a.31620
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1552-4825
MeSH Headings: Adolescent; Adult; Algorithms; Alleles; Anodontia--genetics; Child; Family Health; Female; Gene Frequency; Genetic Markers; Genetic Predisposition to Disease; Genotype; Haplotypes; Humans; Interferon Regulatory Factors--genetics; Linkage Disequilibrium; MSX1 Transcription Factor--genetics; Male; Middle Aged; Polymorphism, Single Nucleotide; Receptor, Fibroblast Growth Factor, Type 1--genetics; Transforming Growth Factor alpha--genetics
Other ID: NLM NIHMS57340, NLM PMC2570343
PubMed Central ID: PMC2570343
PubMed ID: 17318851
Date Deposited: 20 Sep 2012 20:34
Last Modified: 20 Feb 2020 13:55


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