Possible association between craniofacial dimensions and genetic markers in ESR1 and ESR2

To investigate the association of genetic markers in ESR1 and ESR2 with craniofacial measurements.

Cross-sectional study.

School of Dentistry of Ribeirão Preto, University of São Paulo.

A total of 146 biologically unrelated, self-reported Caucasian Brazilians with no syndromic conditions were included.

Sagittal and vertical measurements (ANB, S-N, Ptm'-A', Co-Gn, Go-Pg, N-Me, ANS-Me, S-Go and Co-Go) from lateral cephalograms were examined for craniofacial evaluation. DNA was extracted from saliva and genetic markers in ESR1 (rs2234693 and rs9340799) and in ESR2 (rs1256049 and rs4986938) were analysed by real-time polymerase chain reaction. Hardy-Weinberg equilibrium was evaluated using the Chi-square test within each marker. The associations between craniofacial dimensions and genotypes were analysed by linear regression and adjusted by sex and age. The established alpha was 5%.

Individuals carrying CC in ESR1 rs2234693 had a decrease of -3.146 mm in ANS-Me (P = 0.044). In addition, rs4986938 in ESR2 was associated with S-N measurement (P = 0.009/ ß = -3.465). This marker was also associated with Go-Pg measurement, in which the CC genotype had a decrease of -3.925 mm in the length of the mandibular body (P = 0.043).

The present study suggests that in ESR1 and ESR2 are markers for variations in the craniofacial dimensions. However, further research should confirm the results.