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Updated: Jan 18, 2026

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
Association between MSX1 rs12532 polymorphism with nonsyndromic unilateral complete cleft lip and palate and tooth
Melissa Lancia1, Renato Assis Machado2, Thiago José Dionísio3
1Department of Orthodontics, Bauru Dental School, University of São Paulo, Bauru, São Paulo, Brazil.
Objectives:
To investigate the association of MSX1 rs12532 polymorphism with the risk of nonsyndromic unilateral complete cleft lip and palate (NSCLP) and tooth agenesis.
Materials And Methods:
The study is comprised of 384 individuals divided into 4 groups: group 1, patients with unilateral complete NSCLP and premolar agenesis (n = 57); group 2, patients with unilateral NSCLP without tooth agenesis (n = 117); group 3, patients with premolar agenesis without oral cleft (n = 53) and group 4 (n = 157), a control group with individuals without tooth agenesis and oral cleft. Genotyping of rs12532 was carried out with Taqman chemistry, and associations were investigated using logistic regression analyses.
Results:
Overall rs12532 allele and genotype distributions revealed no significant differences between the groups of NSCLP or tooth agenesis.
Conclusion:
Although our results are consistent with a lack of association of MSX1 rs12532 and the risk of unilateral NSCLP and tooth agenesis, further studies with additional SNPs and a more diverse ethnic cohort are warranted.
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