NGS PubMed Highlights: Can we predict the face of an individual from its DNA?

Apparently we are not there yet, however a recent article published in PLoS Genetics describes a genome-wide association study that allowed the identification of five loci influencing facial morphology in europeans. The study has been carried out in almost 5,400 individuals of European descent. Researchers defined four-dozen facial traits measurable from three-dimensional magnetic resonance as well from two-dimensional data from portrait photographs.
PRDM16, PAX3, TP63, C5orf50, and COL17A1 are the five candidate genes involved in the determination of the human face.
The scientists involved in the study speculate that it should be possible to identify additional variants, including some with smaller effects, through studies that involve larger sample sets and more detailed facial measurements.
As reported by the Medical Daily web site "perhaps one day, police officers will be able to use DNA found at the crime scene to create an image of a person's face, rather than relying on witness testimony told to sketch artists".

PLoS Genet. 2012 Sep;8(9):e1002932. doi: 10.1371/journal.pgen.1002932. Epub 2012 Sep 13.

A genome-wide association study identifies five Loci influencing facial morphology in europeans.

Liu F, van der Lijn F, Schurmann C, Zhu G, Chakravarty MM, Hysi PG, Wollstein A, Lao O, de Bruijne M, Ikram MA, van der Lugt A, Rivadeneira F, Uitterlinden AG, Hofman A, Niessen WJ, Homuth G, de Zubicaray G, McMahon KL, Thompson PM, Daboul A, Puls R, Hegenscheid K, Bevan L, Pausova Z, Medland SE,Montgomery GW, Wright MJ, Wicking C, Boehringer S, Spector TD, Paus T, Martin NG, Biffar R, Kayser M.

Source

Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.

Abstract

Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study forfacial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes-PRDM16, PAX3, TP63, C5orf50, and COL17A1-in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facialfeatures. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facialmorphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.

PMID:

 

23028347