Genetic and environmental contributions to the development of soft tissue facial profile: a twin study

This study aimed to determine the relative contribution of genetic and environmental factors in the phenotypic variation of the soft tissue facial profile during the mixed dentition and the permanent dentition stages.

In this retrospective cohort study, standardized facial profile photographs of 139 twin pairs (55 monozygotic and 84 dizygotic) were obtained from archival records at the Adelaide Dental School. Photographic analysis used 12 angular and 14 linear facial profile measurements from the mixed dentition (7-11 years) to the permanent dentition (12-17 years) stages. A genetic analysis was performed using a univariate structural equation model adhering to the normal assumptions of a twin model.

In the mixed dentition stage, the additive genetic (A) and unique environment (E) model, AE model, was the most parsimonious in explaining the observed phenotypic variance for all 26 facial traits with the narrow-sense heritability estimates ranging between 0.38 and 0.79. In the permanent dentition, the AE model was the most parsimonious for 20 out of 26 traits, however, the variance of six traits, particularly those in the lower third of the face, was best explained by the shared environmental and unique environmental factors.

This study exclusively included twins of European ancestry.

The soft tissue facial profile demonstrated dynamic genetic and environmental influences with a greater additive genetic influence during the mixed dentition and the early stages of the permanent dentition. However, there was evidence of increasing environmental influence in the lower third of the face during the early stages of the permanent dentition.