Association between MSX1 rs12532 polymorphism with nonsyndromic unilateral complete cleft lip and palate and tooth agenesis. (January 2020)

• Record Type: Journal Article
• Authors: Lancia, Melissa; Machado, Renato Assis; Dionísio, Thiago José; Garib, Daniela Gamba; Santos, Carlos Ferreira dos; Coletta, Ricardo D.; Neves, Lucimara Teixeira das
• Is Part Of: Archives of oral biology. Volume 109(2020)
• Publication Date: 2020-01
• Subjects: Nonsyndromic cleft lip and palate -- Tooth agenesis -- Risk factor -- Single nucleotide polymorphism -- MSX1; Mouth -- Periodicals; Mouth -- Diseases -- Periodicals; Dentistry -- Periodicals; Electronic journals; 617.6005
• DOI: 10.1016/j.archoralbio.2019.104556
• Languages: English
• ISSNs: 0003-9969

Abstract

Highlights: Agenesis of upper second premolars was most prevalent in individuals with oral cleft (59.3% of the teeth). Agenesis of the lower second premolar was more prevalent in individuals without oral cleft (44.8% of the teeth). Our results are consistent with a lack of association of rs12532 in MSX1 and the risk of unilateral NSCLP and tooth agenesis. Abstract: 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.