Evidence of an involvement of TFAP2A gene in non-syndromic cleft lip with or without cleft palate: an Italian study

Unraveling of factors involved in multifactorial diseases is a great challenge. Different approaches can be contemplate and applied to a variety of congenital malformations. In the present investigation TFAP2A has been considered a good candidate gene for nonsyndromic cleft lip with or without cleft...

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Bibliographic Details
Published in:	International journal of immunopathology and pharmacology Vol. 24; no. 2 Suppl; p. 7
Main Authors:	Martinelli, M, Masiero, E, Carinci, F, Morselli, P G, Palmieri, A, Girardi, A, Baciliero, U, Scapoli, L
Format:	Journal Article
Language:	English
Published:	England 01-04-2011
Subjects:	Cleft Lip - genetics Cleft Palate - genetics European Continental Ancestry Group - genetics Female Haplotypes Humans Italy Male Polymorphism, Single Nucleotide Transcription Factor AP-2 - genetics Italy
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Summary:	Unraveling of factors involved in multifactorial diseases is a great challenge. Different approaches can be contemplate and applied to a variety of congenital malformations. In the present investigation TFAP2A has been considered a good candidate gene for nonsyndromic cleft lip with or without cleft palate (NSCLP) aetiology, basing on a sum of considerations. TFAP2A has been seen involved in orofacial development in mice; it is located in the NSCLP candidate region 6p24; it codes for a transcription factor which regulates expression of IRF6, a gene implied in NSCLP; finally, it is embroiled in the branchiooculofacial syndrome, that includes clefting as feature. A family based association analysis was performed with a sample study of 405 NSCLP triads. Evidence of association was obtained with both single marker and haplotype analyses, thus providing a support for TFAP2A in NSCLP aetiology.
ISSN:	0394-6320