PMID: 12651933Mar 26, 2003

MSX1 and TGFB3 contribute to clefting in South America

Journal of Dental Research
A R VieiraJ C Murray

Abstract

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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Methods Mentioned

BETA
PCR
electrophoresis

Related Concepts

Alleles
Cleft Lip
Cleft Palate, Isolated
DNA Mutational Analysis
Genetic Equilibrium
Homeo Box Sequence
Transcription Factor
Linkage Disequilibrium
Likelihood Functions
Transforming Growth Factor beta

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