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

Abstract

Objective: To investigate the association of genetic markers in ESR1 and ESR2 with craniofacial measurements. Design: Cross-sectional study. Setting: School of Dentistry of Ribeirão Preto, University of São Paulo. Participants: A total of 146 biologically unrelated, self-reported Caucasian Brazilians with no syndromic conditions were included. Methods: 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%. Results: 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). Conclusion: The present study suggests that in ESR1 and ESR2 are markers for variations in the craniofacial dimensions. However, further research should confirm the results.

Genetic Factors That Affect Asymmetric Mandibular Growth—A Systematic Review

“…While looking for other studies concerning the impact of ESR1 on the development of mandibular asymmetry, the study [29] was found. According to the authors of that study, the specific genetic variation in ESR1 (rs2234693 and rs9340799) and ESR2 (rs1256049 and rs4986938) represents possible markers for variation in the craniofacial dimensions.…”

Is dental agenesis associated with sella turcica morphology? A systematic review / Agenesia dentária está associada a morfologia da sela túrcica? Uma revisão sistematizada

“…Furthermore, it is also supposed that morphological variations of the sella turcica can alter the morphology of the pituitary gland and, consequently, cause variations in the hormones excreted by the pituitary gland (Kajear, 2015). In fact, hormones play an important role in craniofacial and tooth development (Omori et al, 2020;Spiller et al, 2020;Bergamo et al, 2021;Küchler et al, 2021;Reis et al, 2021). It is also possible that the connection between variation in the sella turcica and pituitary gland is through the genes that participate in the formation in both structures.…”

“…It is worth mentioning that the sella turcica is an intracranial bone depression located in the sphenoid bone that contains the pituitary gland (Tekiner;Acer;Kelestimur, 2015). The pituitary gland and the hormones excreted by it play an important role throughout the development and harmonious maintenance of the craniofacial complex (Omori et al, 2020;Spiller et al, 2020;Bergamo et al, 2021;Küchler et al, 2021;Reis et al, 2021).…”

Effect of ovariectomy on maxilla and mandible dimensions of female rats

“…We hypothesize that other mechanisms could be involved in the variation of this expression, such as epigenetic factors and microRNAs, 45,46 or genetic polymorphisms in the encoding genes ESR1 and ESR2 . These polymorphisms could be involved in the variations of the receptor transcription, 47 what could affect the maxilla and mandible growth and development 48 . Although oestrogen levels do not regulate the expression of its receptors, it is important to emphasize that oestrogen‐regulated pathways involved in growth processes are mediated by direct interaction of this molecule with ERα and ERβ 49 .…”