Association of the single nucleotide polymorphism rs3796902 in PITX2 with Carabelli's trait in permanent molars

This study investigated the association between Single Nucleotide Polymorphisms (SNPs) in the PITX2 gene and Carabelli trait.

This cross-sectional study included a population of orthodontic patients from Germany. Saliva samples were collected for DNA extraction from buccal cells. SNPs in PITX2 (rs1947187, rs2595110, and rs3796902) were evaluated using real-time PCR with TaqMan technology. The permanent maxillary first molars were assessed using digital models from orthodontic records and classified according to the Carabelli trait phenotype. Comparison between groups was performed for allele distribution and genotypic distribution in codominant, recessive, and dominant models using the chi-square test. A significance level of 5 % was adopted for all analyses.

A total of 160 patients were analyzed. Positive Carabelli trait expression occurred in 18.2 % of tooth maxillary right first molars and 17.5 % of maxillary left first molars. The rs3796902 was associated with positive expression of the Carabelli trait (p < 0.05), in which patients carrying the GG genotype had a higher chance to present the Positive Carabelli trait.

The rs3796902 in PITX2 gene is associated with Carabelli trait in humans.