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 (nâ¯=â¯57); group 2, patients with unilateral NSCLP without tooth agenesis (nâ¯=â¯117); group 3, patients with premolar agenesis without oral cleft (nâ¯=â¯53) and group 4 (nâ¯=â¯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.
KEYWORDS: MSX1, Nonsyndromic cleft lip and palate, Risk factor, Single nucleotide polymorphism, Tooth agenesis