Journal
JOURNAL OF DENTAL RESEARCH
Volume 82, Issue 4, Pages 289-292Publisher
INT AMER ASSOC DENTAL RESEARCHI A D R/A A D R
DOI: 10.1177/154405910308200409
Keywords
cleft lip and palate; cleft palate; MSX1; TGFB3; ECLAMC
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Funding
- NCRR NIH HHS [1-P41-RR03655] Funding Source: Medline
- NIDCR NIH HHS [DE 08559-12, R01 DE016148, P60 DE 13076-02] Funding Source: Medline
- NIDDK NIH HHS [DK 25295] Funding Source: Medline
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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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