ROCK1 is associated with non‐syndromic cleft palate

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 c...

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Bibliographic Details
Published in:Journal of oral pathology & medicine 2020-02, Vol.49 (2), p.164-168
Main Authors: Palmieri, Annalisa, Scapoli, Luca, Carrozzo, Marco, Cura, Francesca, Morselli, Paolo Giovanni, Pannuto, Lucia, Nouri, Nayereh, Carinci, Francesco, Lauritano, Dorina, Martinelli, Marcella
Format: Article
Language:English
Subjects:
Actin
association analysis
Cell differentiation
Cleft Lip
Cleft lip/palate
Cleft Palate
Congenital defects
Contraction
Dentistry
Genetic diversity
Humans
Iran
Italy
Morphogenesis
Muscle contraction
Myosin
orofacial malformation
Polymorphism, Single Nucleotide
rho-Associated Kinases
ROCK1
Signal transduction
Transcription factors
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Summary: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.
ISSN:0904-2512
1600-0714
DOI:10.1111/jop.12973