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E-CADHERIN CODING GENE (CDH1) AND NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE: IS THERE ANY ASSOCIATION?
A Girardi1, L Scapoli1, F Cura1
1Department of Experimental, Diagnostic and Speciality Medicine, University of Bologna, Bologna, Italy.
Journal of Biological Regulators and Homeostatic Agents
|October 30, 2015
Summary
This study investigated the CDH1 gene
Area of Science:
- Genetics
- Developmental Biology
- Oncology
Background:
- Epithelial to Mesenchymal Transition (EMT) is crucial in development and disease.
- EMT's role in nonsyndromic cleft lip with or without cleft palate (NSCL/P) is established.
- The CDH1 gene, encoding E-cadherin, is a key player in EMT.
Purpose of the Study:
- To investigate the association between CDH1 gene variations and NSCL/P etiology.
- To analyze the potential role of CDH1 in the development of NSCL/P.
Main Methods:
- Genotyping of four single nucleotide polymorphisms (SNPs) within the CDH1 gene.
- Conducted association studies, including haplotype and family-based tests, on an Italian sample group.
Main Results:
- No significant association was found between the genotyped CDH1 SNPs and NSCL/P.
- Neither haplotype nor family-based association tests revealed a link between the analyzed variations and the pathology.
Conclusions:
- The investigated CDH1 single nucleotide polymorphisms are not associated with NSCL/P in the Italian cohort.
- Further research may be needed to explore other genetic factors in NSCL/P.
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