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MSX1 and TGFB3 contribute to clefting in South America

Vieira, AR and Orioli, IM and Castilla, EE and Cooper, ME and Marazita, ML and Murray, JC (2003) MSX1 and TGFB3 contribute to clefting in South America. Journal of Dental Research, 82 (4). 289 - 292. ISSN 0022-0345

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MSX1 and TGFB3 have been proposed as genes in which mutations may contribute to non-syndromic forms of oral clefts; however, an interaction between these genes has not been described. The present study attempts to detect transmission distortion of MSX1 and TGFB3 in 217 South American children from their respective mothers. With transmission disequilibrium test analysis, cleft lip with/without cleft palate, cleft lip with palate plus cleft palate only, and all datasets combined showed evidence of association with MSX1 (p = 0.004, p = 0.037, and p = 0.001, respectively). With likelihood ratio test analysis, "cleft lip only" showed association with MSX1 (p = 0.04) and "cleft palate only" with TGFB3 (p = 0.02). A joint analysis of MSX1 and TGFB3 suggested that there may be an interaction between these two loci to increase cleft susceptibility. These results suggest that MSX1 and TGFB3 mutations make a contribution to clefts in South American populations.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Vieira, ARarv11@pitt.eduARV11
Orioli, IM
Castilla, EE
Cooper, ME
Marazita, MLmarazita@pitt.eduMARAZITA
Murray, JC
Date: 1 January 2003
Date Type: Publication
Journal or Publication Title: Journal of Dental Research
Volume: 82
Number: 4
Page Range: 289 - 292
DOI or Unique Handle: 10.1177/154405910308200409
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0022-0345
MeSH Headings: Alleles; Child; Cleft Lip--epidemiology; Cleft Lip--genetics; Cleft Palate--epidemiology; Cleft Palate--genetics; DNA Mutational Analysis; Gene Frequency; Genes, Homeobox; Genetic Predisposition to Disease--genetics; Homeodomain Proteins--genetics; Humans; Likelihood Functions; Linkage Disequilibrium; MSX1 Transcription Factor; Molecular Epidemiology; South America--epidemiology; Transcription Factors--genetics; Transforming Growth Factor beta--genetics; Transforming Growth Factor beta3
PubMed ID: 12651933
Date Deposited: 18 Sep 2012 14:56
Last Modified: 20 Feb 2020 13:55


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