E-CADHERIN CODING GENE (CDH1) AND NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE: IS THERE ANY ASSOCIATION?
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.
Department of Experimental, Diagnostic and Speciality Medicine, University of Bologna, Bologna, Italy.
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Girardi
Department of Experimental, Diagnostic and Speciality Medicine, University of Bologna, Bologna, Italy.
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Scapoli
Department of Experimental, Diagnostic and Speciality Medicine, University of Bologna, Bologna, Italy.
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Cura
Department of Experimental, Diagnostic and Speciality Medicine, University of Bologna, Bologna, Italy.
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Palmieri
Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy.
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Carinci
Department of Experimental, Diagnostic and Speciality Medicine, University of Bologna, Bologna, Italy; Plastic Surgery Unit, SantOrsola Malpighi University Hospital, Bologna, Italy.
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Morselli
Maxillo-Facial Surgery Unit, Careggi Hospital, Firenze, Italy.
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Spinelli
Department of Experimental, Diagnostic and Speciality Medicine, University of Bologna, Bologna, Italy.
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Caramelli
Department of Experimental, Diagnostic and Speciality Medicine, University of Bologna, Bologna, Italy.
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Martinelli