| Literature DB >> 18480962 |
Heiko Reutter1, Stefanie Birnbaum2, Meinhard Mende3, Carola Lauster4, Gül Schmidt4, Henning Henschke3, Mitra Saffar5, Markus Martini6, Roland Lauster7, Franziska Schiefke8, Rudolf H Reich6, Bert Braumann5, Martin Scheer9, Michael Knapp3, Markus M Nöthen10, Franz-Josef Kramer11, Elisabeth Mangold2.
Abstract
Mice with a deletion of Tgf-beta3 (-/-) and association studies in humans of different ethnicities support the involvement of TGFB3 in the etiology of orofacial clefts. In this study, we investigated the relevance of TGFB3 in the development of cleft lip and palate (CL/P) among 204 triads of central European origin. Transmission-disequilibrium test (TDT) analysis revealed no significant transmission distortions for each marker alone, and none for any possible haplotypes. However, we found strong evidence for parent-of-origin effects, with lower risk of maternal transmission compared with paternal transmission [I (M) = 0.38; confidence interval (CI): 0.17-0.86] of the risk allele T to an affected offspring at marker rs2300607. This is also expressed in an increased risk of heterozygous children having the T allele inherited from the father (R (P) = 3.47; CI: 1.32-9.11). Our data support the involvement of TGFB3 in the development of oral clefts in patients of central European origin.Entities:
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Year: 2008 PMID： 18480962 DOI： 10.1007/s10038-008-0296-9
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172