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ENAM gene polymorphisms associated with dental anomalies in individuals with cleft lip and palate

Aim

This study aimed to investigate the occurrence of enamelin gene (ENAM) single nucleotide polymorphisms (SNP) and ENAM polymorphism association with dental anomalies (DA) in individuals with unilateral or bilateral cleft lip and palate (CLP).

Methods

Saliva samples were collected from 147 individuals aged between 6 and 15 years-old, both genders, and divided into 4 groups: Group 1 (G1) - CLP and DA; Group 2 (G2) - CLP without DA; Group 3 (G3) - without CLP with DA; Group 4 (G4) - without CLP and DA. The genomic DNA was extracted from saliva samples and the following ENAM SNPs markers were genotyped: rs3796703, rs3796704, rs3796705, rs7671281, rs2609428, and rs35951442. Fisher exact and Pearson’s Chi-square tests statistically analyzed the results (α=5%).

Results

Individuals without CLP with DA (Group 3 - 19.2%) showed statistically higher prevalence of SNP rs2609428 heterozygotes (p=0.006) than individuals with CLP and DA (Group 1 - 0%). Individuals without CLP (10%) exhibited statistically higher prevalence of mutated heterozygotes/homozygous (p=0.028) than in individuals with CLP (1.3%).

Conclusion

SNP rs2609428 marker of ENAM gene may be associated with dental anomalies in individuals without cleft lip and palate.

Keywords
Polymorphism, single nucleotide; Cleft lip; Cleft palate; Extracellular matrix proteins


Faculdade de Odontologia de Piracicaba - UNICAMP Avenida Limeira, 901, cep: 13414-903, Piracicaba - São Paulo / Brasil, Tel: +55 (19) 2106-5200 - Piracicaba - SP - Brazil
E-mail: brjorals@unicamp.br