Association Between EDAR Gene Polymorphism and Non-syndromic Tooth Agenesis

Objectives: Tooth agenesis is one of the most common anomalies of human dentition. Recent genetic studies have provided information regarding a number of genes related to both syndromic and non-syndromic forms of tooth agenesis. The objective of this study was to explore the association between single nucleotide polymorphisms (SNPs) in EDAR/EDARADD and non-syndromic tooth agenesis in the Chinese Han population.
Methods: These individuals were analyzed with 112 subjects diagnosed with non-syndromic tooth agenesis and 112 healthy control subjects. DNA was obtained from whole blood or saliva samples and genotyping was performed by Polymerase Chain Reaction. The associations between genotypes and the risk of tooth agenesis were estimated by computing the odds ratio (OR) with 95% confidence intervals (95%CI) from logistic regression analyses. P < 0.05 was considered statistically significant.
Results: A significant difference was observed in the allele and genotype frequencies of three markers (rs10432616, rs3749099 and rs3749099 of EDAR) of subjects with non-syndromic tooth agenesis compared with the controls (P<0.05). However, this analysis showed no significant difference in the allele and genotype frequencies of any markers in EDARADD comparing between subjects non-syndromic tooth agenesis and controls.
Conclusions: In this study, we identified the association between three SNPs in EDAR (rs10432616, rs3749098 and rs3749099) with non-syndromic tooth agenesis in Chinese Han population. EDAR can be regarded as candidate for mutation detection in individuals with tooth agenesis. However, interpretation of this data is limited by the sample size and further analysis involving larger sample sizes and advanced methods are required to further elucidate these observations.