Item type:Thesis, Open Access

Assoziationsanalysen im TGFA- und TGFB3-Gen bei Patienten mit Lippen-Kiefer-Gaumenspalten und Gaumenspalten

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Date

2003-07-23

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Philipps-Universität Marburg
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Abstract

Non-syndromic cleft lips with or without cleft palate (CL/P) and cleft palates only (CPO) are one of the most common disorders estimated to occur in 1:700- 1:1000 live births as a result of a combination of genetic and environmental factors. Association studies of CL/P identified a number of candidate genes but proved to be difficult to reproduce. Here we wish to report our results investigating the two candidate genes TGFA and TGFB3 for the german CL/P population. Our case-control study of 37 patients displaying CL/P showed the rare allele 4bp of the polymorphism wt->4bp located at TGFA to be associated with CL/P (P=0.02). To circumvent effects of the populationstratification a family based association study (TDT) was carried out confirming the significant association (P=0.04). Earlier studies carried out in the US american population did show this association as well. Therefore, the rare allele 4bp can be viewed as a modifier gene in CL/P. Biological support for a role of TGFA arises from its presence at high levels in the epithilial tissue of the medial edge of the palatale shelves at the time of fusion in mice.

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Dates
Created: 2003Issued: 2003-07-23Updated: 2018-09-03
DOI
https://doi.org/10.17192/z2003.0417
Faculty
Medizin
Publisher
Philipps-Universität Marburg
Language
ger
Data types
DoctoralThesis
Keywords
Transforming Growth Factor alphaCleft PalateTransforming Growth Factor beta 3Cleft Lip
DFG-subjects
GaumenspalteTransforming Growth Factor beta 3Transforming Growth FactorLippen-Kiefer-Gaumenspalte
DDC-Numbers
610
License
https://rightsstatements.org/vocab/InC-NC/1.0/
URI
https://open.uni-marburg.de/handle/10.17192/z2003.0417
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Pletsch, Nadine: Assoziationsanalysen im TGFA- und TGFB3-Gen bei Patienten mit Lippen-Kiefer-Gaumenspalten und Gaumenspalten. : Philipps-Universität Marburg 2003-07-23. DOI: https://doi.org/10.17192/z2003.0417.

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