Candidate gene analysis of nonsyndromic cleft in humans: transforming growth factor alpha

Previous association studies of nonsyndromic cleft lip with or without cleft palate in Caucasian have strongly suggested that transforming growth factor alpha (TGFA) plays a role in clef ting. However, this remains controversial. Purpose: The aim of this study was (1) to analyze and reconfirm the role of TGFA in Japanese and (2) to summarize the results of previous genetic studies of nonsyndromic cleft. Method: We studied TFGA Taq I and two newly detected polymorphism makers for TGFA. Results and conclusion: Highly significant associations were found between the haplotypes of the two new TGFA makers in Japanese. Our haplotype data support the role of TGFA in facial clef ting. In additon, genetic studies in Japanese are limited; thus, future work is awaited.

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