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AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts

Letra, A and Menezes, R and Granjeiro, JM and Vieira, AR (2009) AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. Birth Defects Research Part A - Clinical and Molecular Teratology, 85 (2). 169 - 173. ISSN 1542-0752

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Abstract

BACKGROUND: AXIN2 and CDH1 genes play important roles during craniofacial morphogenesis. Mutations in these genes have been described in families presenting colorectal cancer and tooth agenesis, and gastric cancer and cleft lip/palate (CL/P). Oral clefts have been associated with tooth agenesis. We investigated if AXIN2 and CDH1 polymorphisms were associated with clefts or with any associated dental subphenotypes. METHODS: Markers in AXIN2 and CDH1 were genotyped using Taqman chemistry in a sample cohort comprised of 500 cleft individuals and 500 unrelated controls. RESULTS: Comparison between cleft and control groups showed a trend for association for AXIN2 with incomplete cleft palate (p = .006) and CDH1 with unilateral CL/P (p = .03 for left CL/P and p = .04 for right CL/P). Comparison of cleft subphenotypes with tooth agenesis and controls revealed borderline associations for CDH1 (p = .008) and AXIN2 (p = .01) with unilateral right CL/P with tooth agenesis. CONCLUSIONS: We observed only borderline results for the association of AXIN2 and CDH1 with CL/P with and without tooth agenesis. Nevertheless, implication of these genes in the simultaneous occurrence of CL/P and cancer, and in tooth agenesis and cancer, is rather intriguing and warrants further investigations with other geographic and ethnic populations. © 2008 Wiley-Liss, Inc.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Letra, A
Menezes, R
Granjeiro, JM
Vieira, ARarv11@pitt.eduARV11
Date: 1 February 2009
Date Type: Publication
Journal or Publication Title: Birth Defects Research Part A - Clinical and Molecular Teratology
Volume: 85
Number: 2
Page Range: 169 - 173
DOI or Unique Handle: 10.1002/bdra.20489
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1542-0752
MeSH Headings: Adolescent; Adult; Axin Protein; Cadherins--genetics; Child; Child, Preschool; Cleft Lip--complications; Cleft Lip--genetics; Cleft Palate--complications; Cleft Palate--genetics; Cytoskeletal Proteins--genetics; Female; Genetic Predisposition to Disease; Humans; Linkage Disequilibrium; Male; Middle Aged; Polymorphism, Single Nucleotide; Tooth Abnormalities--complications; Tooth Abnormalities--genetics; Young Adult
Other ID: NLM NIHMS124427, NLM PMC2755581
PubMed Central ID: PMC2755581
PubMed ID: 18683894
Date Deposited: 20 Sep 2012 21:11
Last Modified: 20 Feb 2020 13:55
URI: http://d-scholarship.pitt.edu/id/eprint/14291

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