title: MSX1 and TGFB3 contribute to clefting in South America.
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.
authors.affiliation: Departments of Pediatrics, 2613 JCP, University of Iowa, Iowa City, 52242-1083, USA.
authors.forename: A R
authors.initials: AR
authors.lastname: Vieira
authors.forename: I M
authors.initials: IM
authors.lastname: Orioli
authors.forename: E E
authors.initials: EE
authors.lastname: Castilla
authors.forename: M E
authors.initials: ME
authors.lastname: Cooper
authors.forename: M L
authors.initials: ML
authors.lastname: Marazita
authors.forename: J C
authors.initials: JC
authors.lastname: Murray
mesh_terms: D000483:Alleles; D002648:Child; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005801:Genes, Homeobox; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D016013:Likelihood Functions; D015810:Linkage Disequilibrium; D051957:MSX1 Transcription Factor; D017720:Molecular Epidemiology; D013020:South America / Q000453:epidemiology; D014157:Transcription Factors / Q000235:genetics*; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053782:Transforming Growth Factor beta3
chemical_list: D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; D014157:Transcription Factors; D016212:Transforming Growth Factor beta; D053782:Transforming Growth Factor beta3