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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Item Type: |
Article
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Status: |
Published |
Creators/Authors: |
Creators | Email | Pitt Username | ORCID  |
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Menezes, R | | | | Letra, A | | | | Kim, AH | | | | Küchler, EC | | | | Day, A | | | | Tannure, PN | | | | Da Motta, LG | | | | Paiva, KBS | | | | Granjeiro, JM | | | | Vieira, AR | arv11@pitt.edu | ARV11 | |
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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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