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Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis

Callahan, N and Modesto, A and Meira, R and Seymen, F and Patir, A and Vieira, AR (2009) Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis. Archives of Oral Biology, 54 (1). 45 - 49. ISSN 0003-9969

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Tooth agenesis is a common congenital disorder that affects almost 20% of the world's population. A number of different genes have been shown to be associated with cases of tooth agenesis including AXIN2, IRF6, FGFR1, MSX1, PAX9, and TGFA. Of particular interest is AXIN2, which was linked to two families segregating oligodontia and colorectal cancer. We studied two collections of families affected with tooth agenesis and tested them for association with AXIN2. Significant association between tooth agenesis and AXIN2 was found (p = 0.02) in cases with at least one missing incisor. Our work further supports a role of AXIN2 in human tooth agenesis and for the first time suggests AXIN2 is involved in sporadic forms of common incisor agenesis. Future studies should identify which specific tooth agenesis sub-phenotypes are consequence of AXIN2 genetic variations. A sub-set of these cases could have an increased susceptibility for colon cancer or other types of tumours and this knowledge would have significant clinical implications. © 2008 Elsevier Ltd. All rights reserved.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Callahan, N
Modesto, A
Meira, R
Seymen, F
Patir, A
Vieira, ARarv11@pitt.eduARV11
Date: 1 January 2009
Date Type: Publication
Journal or Publication Title: Archives of Oral Biology
Volume: 54
Number: 1
Page Range: 45 - 49
DOI or Unique Handle: 10.1016/j.archoralbio.2008.08.002
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0003-9969
MeSH Headings: Anodontia--genetics; Axin Protein; Case-Control Studies; Colonic Neoplasms--genetics; Cytoskeletal Proteins--genetics; Female; Genetic Predisposition to Disease; Germ-Line Mutation--genetics; Humans; Incisor--abnormalities; Male; Polymorphism, Genetic; Saliva--metabolism
Other ID: NLM NIHMS89363, NLM PMC2643013
PubMed Central ID: PMC2643013
PubMed ID: 18790474
Date Deposited: 20 Sep 2012 20:14
Last Modified: 20 Feb 2020 13:55


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