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Studies with Wnt genes and nonsyndromic cleft lip and palate

Menezes, R and Letra, A and Kim, AH and Küchler, EC and Day, A and Tannure, PN and Da Motta, LG and Paiva, KBS and Granjeiro, JM and Vieira, AR (2010) Studies with Wnt genes and nonsyndromic cleft lip and palate. Birth Defects Research Part A - Clinical and Molecular Teratology, 88 (11). 995 - 1000. ISSN 1542-0752

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Abstract

Background: Clefts of the lip and/or palate (cleft lip/palate) are notable for their complex etiology. The WNT pathway regulates multiple developmental processes including craniofacial development and may play a role in cleft lip/palate and other defects of craniofacial development such as tooth agenesis. Variations in WNT genes have been recently associated with cleft lip/palate in humans. In addition, two WNT genes, Wnt3 and Wnt9B, are located in the clf1 cleft locus in mice. Methods: We investigated 13 SNPs located in Wnt3A, Wnt5A, Wnt8A, Wnt11, Wnt3, and Wnt9B genes for association with cleft lip/palate subphenotypes in 463 cleft cases and 303 unrelated controls. Genotyping of selected polymorphisms was carried out using Taqman assays. PLINK 1.06 software was used to test for differences in allele frequencies of each polymorphism between affected and unaffected individuals. Haplotype analysis was also performed. Results: Individuals carrying variant alleles in WNT3 presented an increased risk for cleft lip/palate (p = 0.0003; OR, 1.61; 95% CI, 1.29-2.02) in the population studied. Conclusion: Our results continue to support a role for WNT genes in the pathogenesis of cleft lip/palate. Although much remains to be learned about the function of individual WNT genes during craniofacial development, additional studies should focus on the identification of potentially functional variants in these genes as contributors to human clefting. © 2010 Wiley-Liss, Inc.

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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Menezes, R
Letra, A
Kim, AH
Küchler, EC
Day, A
Tannure, PN
Da Motta, LG
Paiva, KBS
Granjeiro, JM
Vieira, ARarv11@pitt.eduARV11
Date: 1 November 2010
Date Type: Publication
Journal or Publication Title: Birth Defects Research Part A - Clinical and Molecular Teratology
Volume: 88
Number: 11
Page Range: 995 - 1000
DOI or Unique Handle: 10.1002/bdra.20720
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1542-0752
MeSH Headings: Brazil; Case-Control Studies; Cleft Lip--genetics; Cleft Lip--pathology; Cleft Palate--genetics; Cleft Palate--pathology; Dental Enamel Hypoplasia--pathology; European Continental Ancestry Group--genetics; Gene Frequency; Genotype; Haplotypes; Humans; Phenotype; Polymorphism, Single Nucleotide--genetics; Wnt Proteins--genetics; Wnt3 Protein; Wnt3A Protein
Other ID: NLM NIHMS220733, NLM PMC2991560
PubMed Central ID: PMC2991560
PubMed ID: 20890934
Date Deposited: 20 Sep 2012 21:10
Last Modified: 20 Feb 2020 13:55
URI: http://d-scholarship.pitt.edu/id/eprint/14340

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