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Rock1 Is Associated With Non-Syndromic Cleft Palate Publisher Pubmed



Palmieri A1 ; Scapoli L1 ; Carrozzo M2 ; Cura F3 ; Morselli PG1, 4 ; Pannuto L4 ; Nouri N5, 6 ; Carinci F3 ; Lauritano D7 ; Martinelli M1
Authors
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Authors Affiliations
  1. 1. Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy
  2. 2. School of Dental Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
  3. 3. Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy
  4. 4. Plastic Surgery Unit, University Hospital of Bologna Sant'Orsola Malpighi Polyclinic, Bologna, Italy
  5. 5. Craniofacial and Cleft Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  6. 6. Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran
  7. 7. Department of Medicine and Surgery, Centre of Neuroscience of Milan, University of Milano-Bicocca, Milan, Italy

Source: Journal of Oral Pathology and Medicine Published:2020


Abstract

Background: Craniofacial morphogenesis is the result of an intricate multistep network of tightly controlled spatial and temporal signalling that involves several molecules and transcription factors organized into highly coordinated pathways. Any alteration in even one step of this delicate process can lead to congenital malformations such as cleft palate. One of the first steps in embryonal orofacial development is the migration of cells from the neural crests to the branchial arches. Next, the cells have to proliferate, differentiate, move and connect to each other in order to correctly form the palate. Cell contraction, promoted by the interaction of non-muscle myosin II and actin A, is a crucial step in morphogenesis and is regulated by ROCK1 protein. Methods: A family-based association study was carried out in order to verify whether or not genetic variants of ROCK1 were associated with non-syndromic cleft palate (nsCP). Two cohorts from Italy and Iran, a total of 189 nsCP cases and their parents were enrolled. Results: The rs35996865-G allele was under-transmitted in cases of nsCP [P =.006, odds ratio (OR) = 0.63 (95% CI 0.45-0.88)]. Conclusion: This investigation reveals for the first time data supporting a role for ROCK1 in nsCP aetiology. © 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd