title: Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis.
abstract: 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.
authors.affiliation: Center for Craniofacial and Dental Genetics, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15261, USA.
authors.forename: N
authors.initials: N
authors.lastname: Callahan
authors.forename: A
authors.initials: A
authors.lastname: Modesto
authors.forename: R
authors.initials: R
authors.lastname: Meira
authors.forename: F
authors.initials: F
authors.lastname: Seymen
authors.forename: A
authors.initials: A
authors.lastname: Patir
authors.forename: A R
authors.initials: AR
authors.lastname: Vieira
mesh_terms: D000848:Anodontia / Q000235:genetics*; D060466:Axin Protein; D016022:Case-Control Studies; D003110:Colonic Neoplasms / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D008297:Male; D011110:Polymorphism, Genetic; D012463:Saliva / Q000378:metabolism
chemical_list: C491761:AXIN2 protein, human; D060466:Axin Protein; D003598:Cytoskeletal Proteins
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