Evidence of an involvement of TFAP2A gene in non-syndromic cleft lip with or without cleft palate: an Italian study.
Int J Immunopathol Pharmacol
; 24(2 Suppl): 7-10, 2011.
Article
in En
| MEDLINE
| ID: mdl-21781438
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cleft Lip
/
Cleft Palate
/
Transcription Factor AP-2
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Europa
Language:
En
Journal:
Int J Immunopathol Pharmacol
Journal subject:
ALERGIA E IMUNOLOGIA
/
FARMACOLOGIA
/
PATOLOGIA
Year:
2011
Document type:
Article
Affiliation country: