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Evidence of LEF1 fetal-maternal interaction in cleft lip with or without cleft palate in a consistent Italian sample study
- Source :
- ResearcherID
- Publication Year :
- 2011
-
Abstract
- Epithelial mesenchymal transformation is considered a cardinal process in orofacial development. Several molecular players appear to be involved in this delicate mechanism; the activation of LEF1 transcription factor by transforming growth factor beta 3 seems to be a key step for the correct flow of events. The failure of orofacial processes during embryonic development may provoke cleft lip and/or cleft palate malformations. The scope of the present investigation was to verify whether genetic variants at LEF1 could influence the risk of orofacial clefting. The approach was a family based association study involving a total of 512 Italian patients and their parents, 401 having cleft lip with or without cleft palate (CL/P) and 111 with cleft palate only (CPO). Haplotype association analysis provided moderate evidence of an association with clefting (p 0.01). A log-linear likelihood-based method was used to verify maternal and foetal-maternal association. An association between the maternal genotype and the occurrence of CL/P was observed at two polymorphic loci, at rs10022956 (P = 0.0049) and rs10025431 (P = 0.0065) respectively, while a foetal-maternal effect modulating the risk of clefting was found at locus rs10025431 (P = 0.0071). These data further corroborate the importance of the mother's genotype with regard to susceptibility to malformations and early-onset diseases.
- Subjects :
- maternal effect
Genotype
Lymphoid Enhancer-Binding Factor 1
Cleft Lip
orofacial malformation
TGFβ pathway
Immunology
Locus (genetics)
lef1
Bioinformatics
Polymorphism, Single Nucleotide
White People
NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE (CL/P)
Pregnancy
Immunology and Allergy
Medicine
Humans
Genetic association
Pharmacology
Fetus
business.industry
Haplotype
Cleft Palate
Italy
Transforming growth factor, beta 3
Moderate evidence
Female
Polymorphic locus
business
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- ResearcherID
- Accession number :
- edsair.doi.dedup.....1486b52d969104cb68a8ec089dd0445e