image: This figure summarizes the main findings. At the bottom is a composite Manhattan plot showing the genetic association results for all 20 facial traits. The horizontal red line represents the threshold for genome-wide statistical significance at p < 5 x 10-8. We observed seven genetic associations that surpassed this threshold. For each signal, the associated facial trait is shown above, along with the chromosomal location of the top SNP and some potentially relevant genes in the immediate vicinity. view more
Credit: John Shaffer and colleagues
Many of the characteristics that make up a person's face, such as nose size and face width, stem from specific genetic variations, reports John Shaffer of the University of Pittsburgh in Pennsylvania, and colleagues, in a study published on Aug. 25 in PLOS Genetics.
Several lines of evidence suggest that a person's facial shape is controlled by one's genes, but scientists don't yet understand how genetic variation contributes to the range of healthy shapes and sizes that human faces take. To identify these variants, scientists performed a genome-wide association study. They looked for associations between 20 facial characteristics measured from 3D images of 3,118 healthy individuals with European ancestry and almost one million single base pair variations called SNPs, located across the genome. Facial width, the distance between the eyes, the size of the nose and the distance between the lips and eyes all had statistically significant associations with certain SNPs. Their analysis also considered results from two earlier genome-wide association studies and confirmed certain previous findings.
Corresponding author, Dr Seth Weinberg says "Our analysis identified several genetic associations with facial features not previously described in earlier genome-wide studies. What is exciting is that many of these associations involve chromosomal regions harboring genes with known craniofacial function. Such findings can provide insights into the role genes play in the formation of the face and improve our understanding of the causal factors leading to certain craniofacial birth defects." Several of the genetic regions contributing to face shape detected by the researchers contain genes known to play a role in facial development and facial abnormalities. In the future, the scientists hope to identify genetic risk factors that lead to anomalies such as cleft lip and palate.
It is important to keep in mind that these findings likely represent only a small fraction of the genes influencing the size and shape of the human face. Because many of the genes influencing facial morphology are likely to have small effects, successfully mapping a large number of these genes will require much greater sample sizes and a more comprehensive approach to quantifying facial features of interest."
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In your coverage please use this URL to provide access to the freely available article in PLOS Genetics: http://dx.plos.org/10.1371/journal.pgen.1006149
Citation: Shaffer JR, Orlova E, Lee MK, Leslie EJ, Raffensperger ZD, Heike CL, et al. (2016) Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology. PLoS Genet 12(8): e1006149. doi:10.1371/journal. pgen.1006149
Image Credit: John Shaffer and colleagues
Funding: The National Institute for Dental and Craniofacial Research provided funding through the following grants: U01-DE020078 (SMW, MLM); U01-DE020057 (JCM, MLM); R01-DE016148 (MLM, SMW); U01-DE020054 (RAS); U01-DE024425 (MLM); K99-DE02560 (EJL). Funding for genotyping was provided by the National Human Genome Research Institute: X01-HG007821 (MLM, SMW, EF). Funding for initial genomic data cleaning by the University of Washington (CAL and CCL) was provided by contract #HHSN268201200008I from the National Institute for Dental and Craniofacial Research awarded to the Center for Inherited Disease Research (CIDR). Additional funding for was provided by the National Institute of Justice: 2013-DN-BX-K005 (RAS). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Competing Interests: The authors have declared that no competing interests exist.
Journal
PLoS Genetics