Facial Morphology
Introduction
Section titled “Introduction”Facial morphology refers to the study of the structure and form of the human face. The human face exhibits remarkable diversity across individuals and populations, making it a complex and fascinating area of study. This variation is largely influenced by genetic factors, with estimates suggesting a high heritability for facial features, ranging from 60% to 90%[1]. Understanding the genetic underpinnings of facial shape provides insights into human development, health, and social interactions.
The biological basis of facial morphology is intricate, involving the coordinated development of various craniofacial tissues, including those derived from cranial neural crest cells[2]. Research, particularly through Genome-Wide Association Studies (GWAS), has identified numerous genetic loci associated with specific facial features and overall face shape [3]; [4]; [1]; [2]; [5]. These studies have pinpointed genes such as FREM1, PARK2 [4], DCHS2, RUNX2, GLI3, PAX1, EDAR [1], and VPS13B [5], among others, that contribute to facial variation. Fine mapping and detailed investigations are ongoing to understand how specific genetic variations within these regions affect particular facial segments [2].
Clinically, understanding the genetics of normal facial morphology is crucial for gaining insights into congenital craniofacial anomalies. For instance, studies have explored the shared genetic architecture between normal facial features and conditions like non-syndromic cleft lip/palate (nsCL/P)[6]; [7]. Identifying the genetic factors involved in typical facial development can shed light on the mechanisms underlying these developmental disorders and potentially inform diagnostic and therapeutic approaches.
Beyond its biological and clinical significance, facial morphology holds considerable social importance. The diversity of human faces is thought to have evolved partly to facilitate individual recognition, a fundamental aspect of social interaction[1]. Facial features are also extensively used in forensic science for human identification and estimation of ancestry [1]. Therefore, the study of facial morphology encompasses not only genetic and developmental biology but also evolutionary, medical, and social dimensions.
Limitations
Section titled “Limitations”Understanding the genetic underpinnings of facial morphology presents several inherent limitations that warrant careful consideration when interpreting research findings. These challenges span methodological inconsistencies, the complex genetic architecture of facial traits, and the interplay of environmental factors. Acknowledging these limitations is crucial for fostering robust research and advancing the field.
Challenges in Phenotyping and Replication
Section titled “Challenges in Phenotyping and Replication”One significant limitation in facial morphology research is the absence of a standardized phenotyping strategy across studies[8]. Researchers employ diverse approaches and measures, ranging from simple linear distances to more complex multivariate shape analyses [8]. This variability in data collection methods, including different 3D cameras and landmarking protocols, creates challenges in comparing results and directly testing previously reported genetic associations across cohorts [9]. Consequently, the lack of agreement on optimal phenotyping strategies hinders the ability to synthesize findings and build a cumulative understanding of facial genetics [8].
The inconsistency in phenotyping directly contributes to a persistent challenge in the field: the scarcity of independent replication for identified genetic loci [8]. While quantitative measures are expected to offer higher statistical power, they have not consistently yielded many robust associations, and approaches designed to capture complex covariance structures have had limited success in genome-wide association studies (GWAS) to date [10]. The intricate mix of local and global shape features represented by facial phenotypes may dilute the effect of individual genes, making their detection and subsequent replication difficult with current methodologies [9].
Statistical Power and Complex Genetic Architecture
Section titled “Statistical Power and Complex Genetic Architecture”Despite strong evidence indicating that facial phenotypes are highly heritable, with estimates ranging from 60% to 90%, the molecular genetic basis of normal facial variation in the general population remains largely undefined [11]. Genome-wide association studies have identified a limited number of associated loci, and the index single nucleotide polymorphisms (SNPs) at these loci typically explain only a small fraction of the trait variance, often between 0.4% and 0.9%[10]. This disparity between high heritability and the modest variance explained by detected common variants suggests a substantial portion of the genetic architecture, often referred to as “missing heritability,” is yet to be uncovered, potentially involving numerous genes with very small effects, rare variants, or complex gene-gene interactions.
The highly complex nature of craniofacial morphogenesis implies that many genes likely influence facial morphology, but the current GWAS approach has yielded limited robust findings[10]. One reason for this limitation may be that the effect of any single gene is diluted because facial phenotypes represent a complicated blend of local and global shape features [9]. This complexity makes it challenging to pinpoint specific genetic influences and necessitates further fine-mapping and detailed investigations to understand which facial segments are affected by particular loci [12].
Generalizability and Environmental Influences
Section titled “Generalizability and Environmental Influences”The genetic underpinnings of facial morphology are often studied within specific populations, which raises questions about the generalizability of findings across diverse human groups[13]. Facial features are known to vary extensively across human populations, and this diversification may have been influenced by factors such as adaptation to local environments [11]. While these studies contribute to understanding population diversity, findings from one ancestral group may not directly translate to others, necessitating broader and more inclusive research efforts to fully capture the global genetic architecture of facial variation.
Environmental factors play a notable role in shaping facial features and can act as confounders if not adequately controlled [11]. For instance, studies often exclude individuals with conditions like obesity, a history of facial surgery, or trauma, as these can significantly impact facial morphology[11]. While such exclusions help isolate genetic effects, they also highlight the pervasive influence of non-genetic factors. A comprehensive understanding requires further research into gene-environment interactions and how various external influences modulate the expression of genetic predispositions, representing a significant remaining knowledge gap in the field.
Variants
Section titled “Variants”The complex and highly heritable nature of human facial morphology is influenced by numerous genetic variants, each contributing to the subtle differences observed across individuals. These genetic loci often play critical roles in embryonic development, cellular signaling, and tissue formation, collectively shaping the distinct features of the face. Understanding these variants provides insight into the genetic architecture underlying facial diversity and its implications for development.
Several genes are well-established for their significant roles in shaping human facial features, particularly those related to the nose. The PAX3 gene, a transcription factor, is critical for the development of neural crest cells, which are embryonic cells that give rise to much of the craniofacial skeleton and connective tissues. Genetic variants in the PAX3 locus, such as rs7559271 and rs13022712 , have been consistently associated with variations in nose shape, including nasion position and overall nasal morphology [14]. Studies have further indicated that face-associated single nucleotide polymorphisms (SNPs) inPAX3 likely influence enhancer functions, thereby regulating gene activities essential for cranial development. Similarly, GLI3 is a crucial transcription factor in the Hedgehog signaling pathway, fundamental for embryonic development, including the precise patterning of craniofacial structures; variants like rs846315 in this gene are linked to nose shape and have been shown to play important roles in cranial development [11]. Furthermore, SUPT3H, which is part of a complex involved in gene transcription and chromatin remodeling, contains variants such as rs141680515 that are associated with specific nasal traits, including nose bridge breadth and nasal bridge angle. These genes collectively highlight the intricate genetic control over facial development.
Other genetic variants contribute to the diverse tapestry of human facial appearance through various biological pathways. For instance, the SLC24A5 gene, with variants like rs1426654 , plays a well-documented role in melanin synthesis, influencing skin, hair, and eye pigmentation, which are integral components of overall facial appearance and contribute to population-level facial variation. Although its primary association is with pigmentation, the impact on facial appearance is indirectly significant, as features like skin tone and eye color contribute to perceived facial morphology. TheCCDC138 gene encodes a coiled-coil domain-containing protein, often involved in ciliary function, a process critical for various developmental events, including proper craniofacial formation. Similarly, EPAS1 (also known as HIF2A) is involved in cellular responses to hypoxia and angiogenesis, processes that are fundamental for tissue growth and remodeling during development, and its associated lncRNA, LINC01820, with variant rs2881324 , may modulate these pathways. The complex interplay of these genes underscores the polygenic nature of facial traits, where numerous genetic loci contribute to the high heritability observed in facial phenotypes.
Further contributing to the intricate genetic architecture of the human face are variants located in genes like PCAT1, CASC8, PPP1R1C, TMEM174, LINC02230, MYLK-AS1, and MYLK. PCAT1 and CASC8, represented by the variant rs142956334 , are genes often associated with cell proliferation and regulatory functions, which are fundamental to the growth and shaping of tissues during facial development. PPP1R1C (variant rs181188707 ) is a regulatory subunit for protein phosphatase 1, playing a role in numerous cellular signaling pathways that can influence cell differentiation and tissue organization in the developing face. Genes like MYLK (myosin light chain kinase), along with its antisense RNA MYLK-AS1 (variant rs820360 ), are crucial for muscle contraction and cell motility, processes that are vital for the dynamic remodeling of soft tissues and bone during craniofacial morphogenesis. The region encompassingTMEM174 and LINC02230, with variant rs7341037 , suggests potential roles in membrane function or gene regulation that could subtly influence facial contours. Collectively, these variants, though their specific mechanisms on facial traits are still being elucidated, highlight the broad spectrum of biological processes—from cellular signaling to tissue mechanics—that contribute to the highly heritable and complex nature of human facial morphology[15].
Key Variants
Section titled “Key Variants”| RS ID | Gene | Related Traits |
|---|---|---|
| rs72627476 | CCDC138 | lobe attachment facial morphology |
| rs2881324 | EPAS1, LINC01820 | facial morphology lip morphology trait |
| rs7559271 rs13022712 | PAX3 | nose morphology trait facial morphology |
| rs142956334 | PCAT1, CASC8 | facial morphology |
| rs846315 | GLI3 | facial morphology |
| rs181188707 | PPP1R1C | facial morphology |
| rs7341037 | TMEM174 - LINC02230 | facial morphology |
| rs1426654 | SLC24A5 | body mass index skin pigmentation eye color strand of hair color eye colour measurement |
| rs141680515 | SUPT3H | facial morphology |
| rs820360 | MYLK-AS1, MYLK | facial morphology |
Classification, Definition, and Terminology
Section titled “Classification, Definition, and Terminology”Defining Facial Morphology and its Core Terminology
Section titled “Defining Facial Morphology and its Core Terminology”Facial morphology refers to the study of the structure, form, and shape of the human face. It encompasses a wide array of measurable traits, often conceptualized as both local and global shape features . This strong genetic control is evident from family studies and the existence of Mendelian craniofacial syndromes, where specific gene mutations lead to significant facial alterations[9]. However, the vast diversity of normal human facial features is primarily shaped by a complex interplay of numerous genetic variants, reflecting a polygenic architecture where the collective effect of many genes contributes to the overall phenotype [9].
Genome-wide association studies (GWAS) have identified multiple genetic loci significantly associated with normal facial variation. Key genes implicated in these studies include DCHS2, RUNX2, GLI3, PAX1, and EDAR [11], as well as FREM1 and PARK2 [4], and VPS13B [13]. Research indicates that the effect of any single gene on overall facial shape can be subtle, as facial phenotypes represent a complicated mix of local and global shape features [9]. Furthermore, studies have revealed shared genetic underpinnings between normal facial morphology and conditions such as non-syndromic cleft lip/palate, suggesting common developmental pathways influenced by these genetic factors[16]. Even ancient genetic contributions, such as specific regions introgressed from Denisovans, have been linked to modern human facial variation [13].
Developmental Processes Shaping the Face
Section titled “Developmental Processes Shaping the Face”The intricate development of facial morphology is largely orchestrated by precise genetic programs that guide embryonic face formation[9]. Genes identified through genetic studies often play crucial roles in these early developmental stages or are associated with syndromes that affect facial development [9]. Cranial Neural Crest Cells (CNCCs) are fundamental to this process, as these multipotent cells migrate and differentiate to contribute significantly to the formation of various craniofacial tissues and structures [12].
Understanding how genetic variants influence these precise developmental pathways is key to deciphering the molecular basis of diverse facial appearances in the general population [9]. The overarching influence of genetic control during early life and embryonic development is critical for establishing the final facial architecture, illustrating how inherited factors manifest through complex biological processes to define facial features [9]. This developmental programming, guided by an individual’s genome, dictates the growth and patterning of facial components, leading to the unique morphology observed in each person.
Environmental Adaptation and External Influences
Section titled “Environmental Adaptation and External Influences”Beyond individual genetic blueprints and the precise developmental programming they guide, broader environmental factors play a role in shaping facial morphology over evolutionary timescales. The extensive variation observed in human facial features is thought to have been influenced by adaptation to diverse environments[11]. This process contributes to human population diversification, where specific facial traits may have conferred advantages in particular geographic or ecological contexts, leading to their prevalence within certain populations [11].
Biological Background
Section titled “Biological Background”Human facial morphology, characterized by its extensive variation, is a complex trait primarily shaped by a precisely orchestrated series of biological processes during embryonic development[17]. This intricate formation involves the coordinated activity of numerous genes, signaling pathways, and cellular functions, all contributing to the unique facial features observed across individuals and populations [11]. The strong genetic basis of facial morphology, with heritability estimates ranging from 60% to 90%, underscores the significant role of inherited factors in determining face shape[9]. Understanding these underlying biological mechanisms offers crucial insights into both normal facial variation and the origins of craniofacial anomalies [9].
Embryonic Development and Tissue Formation
Section titled “Embryonic Development and Tissue Formation”The development of the human face is an evolutionarily conserved process, beginning with the precise migration, interaction, proliferation, and differentiation of diverse tissue cells, notably the cranial neural crest cells (CNCCs) [17]. These multipotent cells are critical for forming the skeletal and connective tissues of the face. The coordinated movement and interaction of these cells establish the foundational structures, which then undergo further growth and refinement. Disruptions at these early stages can lead to significant changes in facial features, highlighting the delicate balance required for normal development [17].
Genetic Orchestration of Facial Morphology
Section titled “Genetic Orchestration of Facial Morphology”The genetic underpinnings of facial morphology are extensive, with numerous genes and regulatory elements dictating the formation and shaping of facial features. Genome-wide association studies (GWAS) have identified multiple genetic loci associated with various facial traits, including specific genes likePAX3, PRDM16, TP63, C5orf50, COL17A1, DCHS2, RUNX2, GLI3, PAX1, EDAR, FREM1, PARK2, CACNA2D3, EPHB3, and the HOXD cluster [11]. These genes often encode critical biomolecules such as transcription factors, like RUNX2, GLI3, and PAX1, which regulate gene expression patterns crucial for craniofacial development [11]. The overall facial phenotype is a complex blend of local and global shape features, meaning that the influence of any single gene can be subtle and interact with many others [9].
Key Signaling Pathways and Biomolecules
Section titled “Key Signaling Pathways and Biomolecules”The intricate patterning and growth of the face are largely governed by a network of molecular and cellular signaling pathways. Key pathways involved in embryonic craniofacial morphogenesis include the Bone Morphogenic Protein (BMP), Sonic Hedgehog (Shh), Fibroblast Growth Factor (FGF), Growth Hormone Receptor, and Wnt/β-catenin pathways[17]. These pathways utilize a range of critical biomolecules, including specific proteins, enzymes, and receptors, to transmit signals that direct cellular behaviors such as proliferation, differentiation, and migration [17]. For instance, genes like COL17A1 contribute structural components like collagen, essential for tissue integrity, while other genes identified, such as FREM1 and DCHS2, are involved in extracellular matrix organization and cell adhesion, respectively, further illustrating the diverse biomolecular roles in shaping the face [17].
Developmental Processes and Pathophysiological Implications
Section titled “Developmental Processes and Pathophysiological Implications”Disruptions in the precise developmental processes and regulatory networks that govern facial formation can lead to a spectrum of outcomes, from subtle variations in normal facial features to severe craniofacial malformations. Research into gene mutations in individuals with dysmorphologies and studies in animal models have been instrumental in identifying rare genetic variants that have significant impacts on development [11]. Furthermore, there is a recognized shared genetic basis between normal facial morphology and conditions like non-syndromic cleft lip/palate, indicating that common genetic pathways underlie both typical development and certain birth defects[16]. Understanding these pathophysiological processes is vital for informing our knowledge of human health, particularly in the context of developmental disorders, and for advancing fields such as forensic reconstruction [9].
Pathways and Mechanisms
Section titled “Pathways and Mechanisms”The intricate development and diverse forms of human facial morphology are governed by a complex interplay of genetic and cellular pathways, integrated across multiple biological levels. These mechanisms involve precise gene regulation, cellular signaling, and coordinated tissue interactions, all of which contribute to the highly heritable and variable features of the human face. Dysregulation within these pathways can lead to various craniofacial anomalies, highlighting their critical role in normal development.
Genetic Regulation of Facial Development
Section titled “Genetic Regulation of Facial Development”The precise orchestration of facial morphology is fundamentally governed by genetic regulatory mechanisms, where specific genes act as master controllers of developmental programs. Genes such as RUNX2, GLI3, and PAX1, identified as influencing human facial variation, function as transcription factors that bind to DNA to activate or repress the expression of numerous downstream target genes.
Evolutionary Aspects
Section titled “Evolutionary Aspects”Facial morphology in humans exhibits significant variation, shaped by a complex interplay of evolutionary forces over time. These features are highly heritable, with estimates ranging from 60% to 90%, indicating strong genetic control[11]. The diversity observed across human populations reflects a dynamic evolutionary history influenced by adaptation, population movements, and genetic processes.
Adaptive Pressures and Social Significance
Section titled “Adaptive Pressures and Social Significance”The evolution of human facial morphology has been significantly influenced by various selection pressures, including adaptation to local environments and the demands of social interaction. Natural selection likely played a role in shaping certain facial features in response to climatic factors, though the specific mechanisms are complex and can involve trade-offs. Beyond environmental pressures, the diversity of human faces is also proposed to have evolved partly to facilitate individual recognition, a crucial aspect of social interaction and cooperation . However, the effect of any single gene on the resulting phenotype can be diluted due to the complicated mix of local and global shape features, pointing to a polygenic and possibly pleiotropic basis for facial variation[9]. This complex genetic architecture can also lead to evolutionary constraints or trade-offs, where changes in one facial feature might unintentionally affect others due to shared developmental pathways.
Population Genetics and Genetic Architecture
Section titled “Population Genetics and Genetic Architecture”Population genetic processes have played a crucial role in shaping the geographic distribution and variation of facial morphology. Genetic drift, founder effects, and population bottlenecks experienced by ancestral human populations during their migrations out of Africa would have led to random changes in allele frequencies, contributing to the differentiation of facial features among populations. Subsequent gene flow and migration between populations, including ancient admixture events, have further diversified the human face. For example, a Denisovan introgressed region has been implicated in influencing facial variation in some modern human populations, highlighting the impact of gene exchange with archaic hominins[13].
The genetic architecture underlying facial morphology is highly complex, with numerous loci identified through genome-wide association studies (GWAS) as influencing normal human facial variation[9]. These studies reveal the polygenic nature of facial traits, where many genes each contribute a small effect. Furthermore, pleiotropic effects are evident, as some genetic variants influencing facial morphology also show shared genetics with non-syndromic cleft lip/palate[16]. This indicates that genes involved in normal facial development can also contribute to congenital conditions, reflecting deep evolutionary conservation of developmental pathways but also potential for evolutionary constraints due to these interconnected genetic networks.
Geographic Variation and Evolutionary History
Section titled “Geographic Variation and Evolutionary History”The extensive variation in human facial features across different populations is a testament to their long evolutionary history and geographic spread. Physical anthropologists examine this human population diversification, exploring the hypothesis that facial features have been influenced by adaptation to the environment [11]. This co-evolution with the environment could explain some of the observed geographic patterns in facial traits. The study of craniofacial traits is also relevant for understanding human population diversification and ancestry estimation, further underscoring the historical and geographic dimensions of facial evolution [11].
Temporal changes in facial morphology are inferred from the fossil record and genetic studies, tracing ancestral origins and subsequent diversification. The genetic contributions from ancient hominins, such as the Denisovan introgression, illustrate how gene flow from distinct ancestral lineages has contributed to the modern human facial landscape[13]. This ongoing process of genetic exchange, coupled with varying selection pressures and population dynamics like genetic drift, has sculpted the diverse array of human faces observed globally, making facial morphology a rich area for understanding human evolutionary history.
Frequently Asked Questions About Facial Morphology
Section titled “Frequently Asked Questions About Facial Morphology”These questions address the most important and specific aspects of facial morphology based on current genetic research.
1. Why do my siblings look so different if we have the same parents?
Section titled “1. Why do my siblings look so different if we have the same parents?”Your face shape is highly heritable, meaning genetics play a big role, with estimates ranging from 60% to 90%. However, you and your siblings each inherit a unique combination of genes from your parents. Even small differences in these genetic blueprints, involving genes like DCHS2 or EDAR, can lead to noticeable variations in facial features between siblings.
2. Will my kids definitely inherit my nose or jawline?
Section titled “2. Will my kids definitely inherit my nose or jawline?”Not necessarily. Your children will inherit a mix of genetic variations from both you and your partner. While specific features like your nose or jawline are strongly influenced by genes such as RUNX2 and PAX1, the complex interplay of these genes means they might inherit some features from you, some from your partner, and some a unique blend.
3. Can my diet or exercise change my facial structure?
Section titled “3. Can my diet or exercise change my facial structure?”While diet and exercise can affect soft tissues like fat and muscle, which might subtly alter how your face appears, they don’t fundamentally change your underlying bone structure. Your basic facial morphology, influenced by genes such asFREM1 and PARK2, is largely set during development. Major structural changes from diet or exercise are unlikely.
4. Why do people from different parts of the world have such distinct facial features?
Section titled “4. Why do people from different parts of the world have such distinct facial features?”Facial features show remarkable diversity across human populations, partly due to genetic factors and adaptation to different local environments over time. Genetic studies, including those identifying variations in genes like VPS13B, have pinpointed some of these differences, highlighting the complex interplay of genetics and environment in shaping global facial diversity.
5. Is my face shape fixed forever, or can it change over my life?
Section titled “5. Is my face shape fixed forever, or can it change over my life?”Your fundamental facial structure, largely determined by your genetics during development, is quite stable. However, environmental factors and the natural aging process can influence how your face appears over your lifetime. For example, changes in weight, sun exposure, or lifestyle can affect soft tissues, subtly altering your perceived facial shape.
6. Could a DNA test predict what my future child’s face might look like?
Section titled “6. Could a DNA test predict what my future child’s face might look like?”While DNA tests can identify some genetic variations linked to facial features, predicting a child’s exact face shape is incredibly complex and currently not possible. Many genes, like GLI3 and EDAR, contribute to facial morphology, and their intricate interactions, along with environmental factors, create a unique outcome for each individual.
7. Why do some people just seem to have ‘stronger’ jawlines or cheekbones than others?
Section titled “7. Why do some people just seem to have ‘stronger’ jawlines or cheekbones than others?”Differences in features like jawlines or cheekbones are largely due to genetic variations that influence bone and tissue development. Genes such asRUNX2, for instance, are known to play a key role in bone formation and facial structure. These genetic differences contribute to the natural diversity in facial prominence we observe.
8. Does stress or lack of sleep really affect how my face looks?
Section titled “8. Does stress or lack of sleep really affect how my face looks?”While stress and lack of sleep can temporarily affect your skin, muscle tone, or fluid retention, making your face appear tired or puffy, they don’t alter your underlying facial structure. Your fundamental facial morphology, shaped by a complex interplay of genetic factors, remains unchanged by these daily fluctuations.
9. I heard certain facial features are linked to health issues; is that true?
Section titled “9. I heard certain facial features are linked to health issues; is that true?”Understanding the genetics of normal facial development is crucial for insights into congenital craniofacial anomalies, such as non-syndromic cleft lip/palate. Research has explored shared genetic architecture between typical facial features and these conditions, with genes likePAX1 being relevant. So, while your normal facial features aren’t a direct indicator of illness, the underlying genetic mechanisms can sometimes be related to developmental conditions.
10. Can my ethnic background explain why my face looks a certain way?
Section titled “10. Can my ethnic background explain why my face looks a certain way?”Yes, your ancestral background significantly contributes to your facial features. Facial morphology varies extensively across human populations, influenced by both genetic factors and adaptation to different environments. Studies, including those identifying genes likeVPS13B, help us understand these population-specific genetic contributions to the remarkable diversity of human faces.
This FAQ was automatically generated based on current genetic research and may be updated as new information becomes available.
Disclaimer: This information is for educational purposes only and should not be used as a substitute for professional medical advice. Always consult with a healthcare provider for personalized medical guidance.
References
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[10] Claes, Peter, et al. “Genome-wide mapping of global-to-local genetic effects on human facial shape.” Nature Genetics, 2018.
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[12] White, J. D. et al. “Insights into the genetic architecture of the human face.” Nat Genet, 2020. PMID: 33288918.
[13] Bonfante, B. C., et al. “A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.” Science Advances, 2021.
[14] Paternoster, L., et al. “Genome-Wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion.”PLoS Genetics, vol. 8, no. 9, 2012, e1002932.
[15] Xiong, Z., et al. “Novel Genetic Loci Affecting Facial Shape Variation in Humans.” Elife, vol. 8, 2019, e43983.
[16] Howe, L. J. et al. “Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.”PLoS Genet, 2018. PMID: 30067744.
[17] Cha, S. “Identification of five novel genetic loci related to facial morphology by genome-wide association studies.”BMC Genomics, 2018.