skip to main content
US FlagAn official website of the United States government
dot gov icon
Official websites use .gov
A .gov website belongs to an official government organization in the United States.
https lock icon
Secure .gov websites use HTTPS
A lock ( lock ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.


Title: Heterogeneous frailty and the expression of linear enamel hypoplasia in a genealogical population
Abstract ObjectivesLinear enamel hypoplasia (LEH) is a common skeletal marker of physiological stress (e.g., malnutrition or illness) that is studied within and across populations, without reference to familial risk. We examine LEH prevalence in a population with known genealogical relationships to determine the potential influence of genetic heritability and shared environment. MethodsLEH data of 239 individuals from a single population were recorded from the Ohio State University Menegaz‐Bock collection dental casts. All individuals were of known age, sex, and genealogy. Narrow‐sense heritability estimates were obtained for LEH presence and count data from all unworn, fully erupted teeth (excluding third molars) using SOLAR (v.8.1.1). Age, sex, and age–sex interaction were included as covariates. Models were re‐run with a household effect variable. ResultsLEH persists across generations in this study population with moderate, significant heritability estimates for presence in four teeth, and count in four teeth (three teeth were significant for both). When a household effect variable was added, no residual heritability remained for LEH count on any tooth. There was no significant household effect for three of the four teeth that had significant heritability estimates for LEH presence. Age was a significant covariate. Further analyses with birth year data revealed a secular trend toward less LEH. ConclusionsThis study provides evidence for familial risk of LEH (genetic and environmental) that has consequences for the broad use of this skeletal marker of stress. These results have repercussions for archaeological assemblages, or population health studies, where genetic relatives and household groups might be heavily represented.  more » « less
Award ID(s):
1750089
PAR ID:
10449236
Author(s) / Creator(s):
 ;  ;  ;  ;  
Publisher / Repository:
Wiley Blackwell (John Wiley & Sons)
Date Published:
Journal Name:
American Journal of Physical Anthropology
Volume:
176
Issue:
4
ISSN:
0002-9483
Page Range / eLocation ID:
p. 638-651
Format(s):
Medium: X
Sponsoring Org:
National Science Foundation
More Like this
  1. Abstract ObjectivesMost research in human dental age estimation has focused on point estimates of age, and most research on dental development theories has focused on morphology or eruption. Correlations between developing teeth using ordinal staging have received less attention. The effect of demographic variables on these correlations is unknown. I tested the effect of reference sample demographic variables on the residual correlation matrix using the lens of cooperative genetic interaction (CGI). Materials and MethodsThe sample consisted of Moorrees et al.,Journal of Dental Research, 1963, 42, 1490–1502, scores of left mandibular permanent teeth from panoramic radiographs of 880 London children 3–22.99 years of age stratified by year of age, sex, and Bangladeshi or European ancestry. A multivariate cumulative probit model was fit to each sex/ancestry group (n = 220), each sex or ancestry (n = 440), and all individuals (n = 880). Residual correlation matrices from nine reference sample configurations were compared using Bartlett's tests of between‐sample difference matrices against the identity matrix, hierarchical cluster analysis, and dendrogram cophenetic correlations. ResultsBartlett's test results were inconclusive. Cluster analysis showed clustering by tooth class, position within class, and developmental timing. Clustering patterns and dendrogram correlations showed similarity by sex but not ancestry. DiscussionExpectations of CGI were supported for developmental staging. This supports using CGI as a model for explaining patterns of variation within the dentition. Sex was found to produce consistent patterns of dental correlations, whereas ancestry did not. Clustering by timing of development supports phenotypic plasticity in the dentition and suggests shared environment over genetic ancestry to explain population differences. 
    more » « less
  2. Abstract ObjectivesThis article presents estimates of narrow‐sense heritability and bivariate genetic correlation for 14 tooth crown morphological variants scored on permanent premolars, first molars, and second molars. The objective is to inform data collection and analytical practices in dental biodistance and to provide insights on the development of molar crowns as integrated structures. Materials and MethodsAfrican American dental casts from the Menegaz‐Bock collection were recorded for the Arizona State University Dental Anthropology System. Estimates of narrow‐sense heritability and genetic correlation were generated using SOLAR v.8.1.1, which included assessment of age, sex, and birth year as covariates. Both continuous scale and dichotomized estimates are provided. ResultsHeritability estimates were nonsignificant for the majority of variables; however, for variables yielding significant estimates, values were moderate to high in magnitude and comparable to previous studies. Comparing left and right‐side heritability estimates suggests directional asymmetry in the expression of environmental variance, something not seen in anterior tooth traits. Genetic correlations were moderate among antimeres and metameres and low for different traits scored on the same tooth crown. Although several negative correlations were noted, few reached statistical significance. Results affirm some of the current data cleaning and analytical practices in dental biodistance, but others are called into question. These include the pooling of males and females and combining left and right‐side data into a single dataset. ConclusionsIn comparison to anterior tooth crown traits, postcanine heritabilities were more often non‐significant; however, those traits with significant heritability also tended to produce higher estimates. Genetic correlations were unremarkable, in part, because they were underpowered. However, M1 results may provide insight into the complex relationship between genes, environment, and development in determining ultimate crown form. 
    more » « less
  3. ABSTRACT Linear enamel hypoplasias (LEHs) are development defects appearing as lines or grooves on enamel surfaces. Forming when physiological stressors disrupt developing teeth, LEHs provide retrospective insight into stress experienced in early development. Here, LEHs in Cayo Santiago rhesus macaques (Macaca mulatta) were observed with respect to decade of birth, whether an individual was transferred from the free‐ranging colony to the captive facility during probable crown formation periods, and matriline of birth. It was hypothesized that later decades would exhibit higher prevalence than earlier decades as climatic conditions in Puerto Rico worsened over time. Transfer was expected to affect LEH formation because the process of transfer, and subsequent restriction to captivity, is thought to be stressful. Matriline membership was hypothesized to relate to LEH formation because there is some evidence of a genetic influence on susceptibility to form LEH and because offspring of matrilines of different dominance ranks are known to experience different levels of aggression. Lower third premolars with minimal enamel surface wear were scored for LEH using a digital microscope, while a follow‐up analysis of the two matrilines with the most extreme differences in LEH frequency was conducted using enamel surface profiles. Results were: (1) individuals born during the 1990s had significantly greater LEH prevalence than those born in the 1960s, (2) transferred individuals exhibited weak evidence of greater LEH prevalence than nontransferred comparison groups, and (3) matrilines did not differ in LEH expression in the initial or follow‐up analysis. Although sample sizes were small for some comparisons, these results suggest that not all decades saw an equal prevalence of LEH, that there might be a small effect of transfer from free‐ranging to captive conditions on LEH prevalence that is difficult to detect, and that the matriline into which an individual is born is not related to LEH expression. 
    more » « less
  4. ABSTRACT The Cayo Santiago rhesus macaque colony is a renowned primate population that has experienced significant natural and anthropogenic ecological variation in their 85‐year history. Demographic and familial information is also tracked and collated for the majority of monkeys. Thus, the health history of rhesus macaques at Cayo Santiago should reflect the impacts of both environmental and genetic factors. In this study, we utilized a sample of skeletal remains comprised of 2787 individuals (1571 females, 1091 males), born between 1938 and 2017 from the derived skeletal collection of the primate colony to assess variation in survivorship, pathology, bone mineral density (BMD), and dental eruption status, in the context of hurricane impacts, nutritional fluctuations, and matriline genealogy. Results demonstrated that rhesus macaques at Cayo Santiago exhibit a range of skeletal pathologies that encompass biomedical and archaeological significance, multiple etiologies, severities, locations, and types, in addition to a secular trend of declining BMD that is hypothesized to reflect decreasing physical activity levels under increasing population densities. Specifically, hurricane impacts were found to increase the rate of systemic disease, decrease BMD in young adults, and delay eruption of the primary dentition. Certain matrilines exhibited heightened levels of systemic disease at early ages while others exhibited greater rates of congenital disease. Early‐life adversity, through the experience of major hurricanes, may enhance inflammatory pathways, heightening the risk of disease and accelerating the aging process leading to reduced BMD. Such impacts may underly greater levels of observed infection post‐hurricane through intensification of pathogen transmission and disease rates brought on by hurricane‐adaptive social strategies that favor closer proximity. Familial susceptibility to disease indicates heritable host genetic factors are likely influencing disease patterning in the population. A cluster of congenital diseases may most convincingly illustrate this, or alternatively reflects low levels of genetic diversity in the population. 
    more » « less
  5. Diabetes-related complications reflect longstanding damage to small and large vessels throughout the body. In addition to the duration of diabetes and poor glycemic control, genetic factors are important contributors to the variability in the development of vascular complications. Early heritability studies found strong familial clustering of both macrovascular and microvascular complications. However, they were limited by small sample sizes and large phenotypic heterogeneity, leading to less accurate estimates. We take advantage of two independent studies—UK Biobank and the Action to Control Cardiovascular Risk in Diabetes trial—to survey the single nucleotide polymorphism heritability for diabetes microvascular (diabetic kidney disease and diabetic retinopathy) and macrovascular (cardiovascular events) complications. Heritability for diabetic kidney disease was estimated at 29%. The heritability estimate for microalbuminuria ranged from 24 to 60% and was 41% for macroalbuminuria. Heritability estimates of diabetic retinopathy ranged from 6 to 33%, depending on the phenotype definition. More severe diabetes retinopathy possessed higher genetic contributions. We show, for the first time, that rare variants account for much of the heritability of diabetic retinopathy. This study suggests that a large portion of the genetic risk of diabetes complications is yet to be discovered and emphasizes the need for additional genetic studies of diabetes complications. 
    more » « less