ROCK1 is associated with non-syndromic cleft palate

(2020) ROCK1 is associated with non-syndromic cleft palate. Journal of Oral Pathology & Medicine. pp. 164-168. ISSN 0904-2512

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Official URL: WOS:000498177800001

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.

Item Type: Article
Keywords: association analysis cleft palate orofacial malformation ROCK1 molecular-mechanisms lip myh9 chain Dentistry, Oral Surgery & Medicine Pathology
Subjects: WU Dentistry. Oral Surgery
Divisions: Craniofacial Disorders Research Center
Page Range: pp. 164-168
Journal or Publication Title: Journal of Oral Pathology & Medicine
Journal Index: ISI
Volume: 49
Number: 2
Identification Number: https://doi.org/10.1111/jop.12973
ISSN: 0904-2512
Depositing User: Zahra Otroj
URI: http://eprints.mui.ac.ir/id/eprint/11318

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