Abstract
Transforming growth factor-alpha (TGFA) genes, transforming growth factor-beta 3 (TGFB 3) genes, and homeobox 7 (MSX 1) genes have been reported to contribute to cleft palate in mice. Many investigators have attempted to demonstrate that these candidate genes contribute to the development of cleft lip, cleft palate, or both (CL/P). Many ethnic groups have been studied, but candidate genes involved in the development of CL/P have not been identified.
We analyzed the association between candidate genes and CL/P, using a microsatellite polymorphism existing near the candidate gene in Japanese patients with CL/P and their parents. The affected familybased control method (AFBAC method) and transmission/disequilibrium test (TDT method) were used to evaluate all sets of comparisons.
Near the TGFB 3 gene, a significant difference was observed in frequency of the transmitted allele 1 from father or mother to the patient with CLP (AFBAC method: P=0.023, TDT method: P=0.014); differences in frequency were not found at other sites.
In conclusion, either the TGFB 3 gene itself or an adjacent DNA sequence may contribute to the development of CLP in the Japanese population, but no significant association was found between CL/P and the TGFA gene or MSX 1 gene.
