E-CADHERIN CODING GENE (CDH1) AND NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE: IS THERE ANY ASSOCIATION?

Abstract:

:Epithelial to Mesenchymal Transition (EMT) is an important process involved in cancer, embryogenesis and organ development. Its role in nonsyndromic cleft lip with or without cleft palate (NSCL/P) has been extensively investigated and successfully linked to the disease. In this study, we focused on a gene, CDH1, encoding for E-cadherin, a key protein in EMT. We carried out an association study on an Italian sample group, genotyping four single nucleotide variations within the CDH1 gene, in order to verify the potential role of this gene in NSCL/P etiology. Neither the haplotype nor the family-based association test revealed any association between the genotyped SNPs and the pathology. Our results demonstrate that, in our Italian sample study, the analyzed single nucleotide polymorphisms are not associated to NSCL/P.

authors

Girardi A,Scapoli L,Cura F,Palmieri A,Carinci F,Morselli PG,Spinelli G,Caramelli E,Martinelli M

subject

Has Abstract

pub_date

2015-07-01 00:00:00

pages

117-22

issue

3 Suppl 1

eissn

0393-974X

issn

1724-6083

pii

21

journal_volume

29

pub_type

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