Association between MSX1 rs12532 polymorphism with nonsyndromic unilateral complete cleft lip and palate and tooth agenesis

Melissa Lancia; Renato Assis Machado; Thiago José Dionísio; Daniela Gamba Garib; Carlos Ferreira Dos Santos; Ricardo D Coletta; Lucimara Teixeira das Neves

doi:10.1016/j.archoralbio.2019.104556

Association between MSX1 rs12532 polymorphism with nonsyndromic unilateral complete cleft lip and palate and tooth agenesis

Arch Oral Biol. 2020 Jan:109:104556. doi: 10.1016/j.archoralbio.2019.104556. Epub 2019 Sep 17.

Authors

Melissa Lancia¹, Renato Assis Machado², Thiago José Dionísio³, Daniela Gamba Garib⁴, Carlos Ferreira Dos Santos⁵, Ricardo D Coletta⁶, Lucimara Teixeira das Neves⁷

Affiliations

¹ Department of Orthodontics, Bauru Dental School, University of São Paulo, Bauru, São Paulo, Brazil.
² Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, São Paulo, Brazil.
³ Laboratory Specialist, Department of Biological Sciences, Bauru Dental School, University of São Paulo, Bauru, São Paulo, Brazil.
⁴ Department of Orthodontics, Bauru Dental School, University of São Paulo, Post-Graduation Program in Rehabilitation Sciences, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, São Paulo, Brazil.
⁵ Department of Biological Sciences, Bauru Dental School, University of São Paulo, Bauru, São Paulo, Brazil.
⁶ Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.
⁷ Department of Biological Sciences, Bauru School of Dentistry, University of São Paulo, Post-Graduation Program in Rehabilitation Sciences, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, São Paulo, Brazil. Electronic address: lucimaraneves@fob.usp.br.

PMID: 31568994
DOI: 10.1016/j.archoralbio.2019.104556

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.

Keywords: MSX1; Nonsyndromic cleft lip and palate; Risk factor; Single nucleotide polymorphism; Tooth agenesis.

MeSH terms

Adolescent
Adult
Alleles
Anodontia
Case-Control Studies
Child
Cleft Lip / genetics*
Cleft Palate / genetics*
Female
Humans
MSX1 Transcription Factor / genetics*
Male
Polymorphism, Single Nucleotide
Young Adult

Substances

MSX1 Transcription Factor
MSX1 protein, human