Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge

Roosenboom, Jasmien; Hens, Greet; Mattern, Brooke C.; Shriver, Mark D.; Claes, Peter

doi:10.1155/2016/3054578

Cited by 47 publications

(40 citation statements)

References 74 publications

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“…Around 40% of the variance in AHI has been shown to be explained by genetic factors . Twin and family studies suggest that ventilatory responsiveness to either hypoxemia or hypercapnia, obesity and craniofacial morphology are also under a high degree of genetic control, with 30–70% of phenotypic variance being explained by shared familial factors . The genetic basis of sleep duration and quality is poorly defined.…”

Section: The Genetic Epidemiology Of Osa and Associated Traitsmentioning

confidence: 99%

“…28 Twin and family studies suggest that ventilatory responsiveness to either hypoxemia or hypercapnia, obesity and craniofacial morphology are also under a high degree of genetic control, with 30-70% of phenotypic variance being explained by shared familial factors. [30][31][32][33] The genetic basis of sleep duration and quality is poorly defined. Heritability has been estimated at~40% for measures of sleep duration, 34 25-45% for insomnia 35 and 17% for excessive daytime sleepiness, 35 but few genetic factors are known.…”

Section: Analytic Approaches To Detect Genes For Complex Diseases Sucmentioning

confidence: 99%

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The genetics of obstructive sleep apnoea

2017

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Obstructive sleep apnoea (OSA) is a common chronic disease and is associated with high social and economic costs. OSA is heritable, and there is evidence of both direct genetic contributions to OSA susceptibility and indirect contributions via 'intermediate' phenotypes such as obesity, craniofacial structure, neurological control of upper airway muscles and of sleep and circadian rhythm. Investigation of the genetics of OSA is an important research area and may lead to improved understanding of disease aetiology, pathogenesis, adverse health consequences and new preventive strategies and treatments. Genetic studies of OSA have lagged behind other chronic diseases; however recent gene discovery efforts have been successful in finding genetic loci contributing to OSA-associated intermediate phenotypes. Nevertheless, many of the seminal questions relating to the genetic epidemiology of OSA and associated factors remain unanswered. This paper reviews the current state of knowledge of the genetics of OSA, with a focus on genomic approaches to understanding sleep apnoea.

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Section: The Genetic Epidemiology Of Osa and Associated Traitsmentioning

confidence: 99%

Section: Analytic Approaches To Detect Genes For Complex Diseases Sucmentioning

confidence: 99%

The genetics of obstructive sleep apnoea

2017

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“…However, our knowledge of which genetic variants are responsible for human facial variation is still lacking 1 . Several genome-wide association studies (GWAS) have each identified a handful of loci associated with a small number of facial traits, few of which have been replicated 2–7 .…”

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confidence: 99%

Genome-wide mapping of global-to-local genetic effects on human facial shape

et al. 2018

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Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation, while preserving statistical power. In a sample of 2,329 persons of European ancestry we identified 38 loci, 15 of which replicated in an independent European sample (n=1,719). Four loci were completely novel. For the others, additional support (n=9) or pleiotropic effects (n=2) were found in the literature, but the results reported here were further refined. All 15 replicated loci revealed distinctive patterns of global-to-local genetic effects on facial shape and showed enrichment for active chromatin elements in human cranial neural crest cells, suggesting an early developmental origin of the facial variation captured. These results have implications for studies of facial genetics and other complex morphological traits.

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“…Given the genetic variability across these conditions, it can be difficult to obtain definitive genetic diagnoses. To combat these difficulties, studies have suggested the use of phenomic databases to help identify functional groups of genes (Birgfeld et al, 2011;Rahman & Rahman, 2019;Roosenboom, Hens, Mattern, Shriver, & Claes, 2016). Rahman and Rahman (2019) noted the benefits of gene-to-phenotype databases and niche expert phenomic resources to assist in clinical diagnosis and/or clinical management.…”

Section: Introductionmentioning

confidence: 99%

The effects of society on the psychosocial functioning of those with a facial difference

Riklin¹,

Andover²,

Annunziato³

2019

Health Psychology Report

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health psychology report • volume 7(2), 9 review article Adolescents with craniofacial conditions (CFCs) may experience intrapersonal and interpersonal challenges such as a greater sensitivity to attractiveness, fewer social supports, and more social withdrawal, all of which can hinder social interactions. However, there are contradictory findings as to whether adolescents with CFCs have more social problems than their peers. This article provides a framework for the social context of interpersonal relationships for those with CFCs drawn from relevant theoretical underpinnings. The authors conducted a comprehensive literature review examining social factors that affect the interpersonal functioning of adolescents with CFCs. Over 35 articles were taken from the growing, but limited, research on this topic via PsychInfo and PubMed using specific search terms such as "craniofacial", "facial dysmorphisms", "complex facial dysmorphisms", "interpersonal", "psychosocial", "social functioning", and "adolescents" among others. Research has identified three salient barriers in social interactions: unattractive or inexpressive faces, social stigma, and societal misconceptions. The empirical studies reviewed postulate that having a facial difference does not result in social dysfunction, but rather the pressures and influences of society negatively impact social functioning. Based on the findings from this review, the authors propose a novel psychosocial model that explains the social dysfunction of adolescents with CFCs. Limitations and future interventions are also discussed.

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Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge

Cited by 47 publications

References 74 publications

The genetics of obstructive sleep apnoea

The genetics of obstructive sleep apnoea

Genome-wide mapping of global-to-local genetic effects on human facial shape

The effects of society on the psychosocial functioning of those with a facial difference

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