Heritability of the Human Craniofacial Complex

Abstract

Quantifying normal variation and the genetic underpinnings of anatomical structures is one of the main goals of modern morphological studies. However, the extent of genetic contributions to normal variation in craniofacial morphology in humans is still unclear. The current study addresses this gap by investigating the genetic underpinnings of normal craniofacial morphology. The sample under investigation consists of 75 linear and angular measurements spanning the entire craniofacial complex, recorded from lateral cephalographs of 1,379 participants in the Fels Longitudinal Study. Heritabilities for each trait were estimated using SOLAR, a maximum-likelihood variance components approach utilizing all pedigree information for parameter estimation. Trait means and mean effects of the covariates age, sex, age 2 , sex 3 age, and sex 3 age 2 were simultaneously estimated in the analytic models. All traits of the craniofacial complex were significantly heritable. Heritability estimates ranged from 0.10 to 0.60, with the majority being moderate. It is important to note that we found similar ranges of heritability occurring across the different functional/developmental components of the craniofacial complex, the splanchnocranium, the basicranium, and the neurocranium. This suggests that traits from different regions of the craniofacial complex are of comparable utility for the purposes of population history and phylogeny reconstruction. At the same time, this genetic influence on craniofacial morphology signals a caution to researchers of nongenetic studies to consider the implications of this finding when selecting samples for study given their project design and goals. Anat Rec, 298:1535Rec, 298: -1547Rec, 298: , 2015. V C 2015 Wiley Periodicals, Inc.

Moderate climate signature in cranial anatomy of late holocene human populations from Southern South America

“…All analyses were performed on the mean value of each sample, using the CS average and the consensus configuration based on Procrustes coordinates. The morphometric analyses were done for the entire skull, and following a previous work (Menéndez et al, ), in three cranial structures in which the skull was divided—face, cranial vault, and cranial base—based on their embryological, developmental, inheritance, and functional characteristics, that allow to consider them as relatively independent units (Cheverud, ; Lieberman, ; Lieberman, Ross, & Ravosa, ; Martínez‐Abadías et al, ; Šešelj, Duren, & Sherwood, ; Sperber, ; but see von Cramon‐Taubadel, ). This allows to compare and evaluate the influence of temperature both on the entire skull and in the mentioned structures, in order to be able to discuss the results with previous ones.…”

Talking heads: Morphological variation in the human mandible over the last 500 years in the Netherlands

“…While some scholars argue that the mandible is of not much value in identifying recent human populations (e.g. Humphrey et al, 1999), other recent studies have pointed out that actually, the mandible can reflect population history quite well, as inferred from geographical distance between populations (Nicholson and Harvati, 2006;Harvati and Weaver, 2006), but also from "population continuity" (Galland et al, 2016;Šešelj et al, 2015). Geographical distance might be a fairly robust proxy for inferring restricted gene flow between populations and a good estimate of different climatic conditions.…”

Diachronic changes in craniofacial morphology among the middle–late Holocene populations from Hehuang region, Northwest China

“…Previous studies of global patterns of cranial variation have suggested that certain regions or “modules” of the human cranium are more congruent with neutral genetic data than others, such as the temporal bone hypothesis, cranial vault and basicranum (von Cramon‐Taubadel, ). However, it is generally accepted that the shape of the whole cranial is a reliable indicator of past population history, and the vault generally is a better indicator than facial regions such as the maxilla and zygomatic (Šešelj, Duren, & Sherwood, ; von Cramon‐Taubadel, , ). In the case of the present sample, the basicrania were generally broken or poorly preserved, so the study focuses on the shape of the cranial vault (neurocranium) and the face, which may provide different perspectives on neutral population history as well as potential environmental factors (von Cramon‐Taubadel, Strauss, & Hubbe, ).…”

“…The calculation of F ST (or the quantitative genetic equivalent) requires an estimation of heritability and effective population size. Previous studies have shown that human craniofacial shape has a moderate heritability, and different cranial regions vary in their heritabilities (Carson, ; Cole et al, ; Šešelj et al, ). In some cases, the heritability can be assumed to complete (i.e., equal to 1), and the calculated F ST is considered a phenotypic “minimum F ST ”.…”