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Am J Epidemiol. 2006 May 1;163(9):790-810. Epub 2006 Feb 22.

Association between the transforming growth factor alpha gene and nonsyndromic oral clefts: a HuGE review.

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  • 1Department of Oral Medicine and Pathology, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA.


Transforming growth factor alpha (TGFA) is a well-characterized mammalian growth factor. Since the first report of an association between DNA sequence variants at the TGFA genetic locus and nonsyndromic oral clefts, 47 studies have been carried out, producing conflicting results. In this review, the author synthesizes findings from published reports on the association between the TGFA gene and clefting in humans. Bias, lack of statistical power, and genuine population diversity can explain the diverse results. In the aggregate, TGFA is probably a genetic modifier of clefting in humans, which is consistent with the oligogenic model suggested for nonsyndromic oral clefts.

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