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Updated: Jan 4, 2026

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Method of Studying Palatal Fusion using Static Organ Culture
Published on: September 19, 2015
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ROCK1 is associated with non-syndromic cleft palate
Annalisa Palmieri1, Luca Scapoli1, Marco Carrozzo2
1Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
Summary
Genetic variants in ROCK1 are linked to non-syndromic cleft palate (nsCP). The rs35996865-G allele was under-transmitted in nsCP cases, suggesting ROCK1
Area of Science:
- Developmental Biology
- Genetics
- Craniofacial Development
Background:
- Craniofacial morphogenesis involves complex signaling pathways essential for proper development.
- Disruptions in these pathways can lead to congenital malformations like cleft palate.
- Cell migration, proliferation, and differentiation are critical steps in palate formation, regulated by proteins like ROCK1.
Purpose of the Study:
- To investigate the association between genetic variants of ROCK1 and non-syndromic cleft palate (nsCP).
- To explore the role of ROCK1 in the etiology of nsCP.
Main Methods:
- A family-based association study design was employed.
- Two independent cohorts from Italy and Iran, comprising 189 nsCP cases and their parents, were analyzed.
- Genetic variants within the ROCK1 gene were examined for association with nsCP.
Main Results:
- The rs35996865-G allele of ROCK1 showed significant under-transmission in nsCP cases.
- Statistical analysis revealed a P-value of .006 and an odds ratio of 0.63 (95% CI 0.45-0.88).
Conclusions:
- This study provides the first evidence supporting a role for ROCK1 in the development of non-syndromic cleft palate.
- The findings suggest that genetic variations in ROCK1 may contribute to nsCP etiology.
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