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Evidence of LEF1 fetal-maternal interaction in cleft lip with or without cleft palate in a consistent Italian sample study

Authors :
Paolo Morselli
Marcella Martinelli
Ambra Girardi
C Riberti
Francesco Carinci
Luca Scapoli
Annalisa Palmieri
Elisabetta Caramelli
Martinelli M
Carinci F
Morselli PG
Caramelli E
Palmieri A
Girardi A
Riberti C
Scapoli L
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.

Details

Language :
English
Database :
OpenAIRE
Journal :
ResearcherID
Accession number :
edsair.doi.dedup.....1486b52d969104cb68a8ec089dd0445e