Genomic analysis reveals the facial association between populations

Recent research on the genetics underlying facial features has identified that East Africans have certain exclusive facial genetics and some that are shared with Europeans. The results of the research were published on August 19th, 2021, in the journal PLOS Genetics.

Human Faces

Image Credit: fizkes/

The authors Chenxing Liu, Seth Weinberg, and John Shaffer from the University of Pittsburgh, and co-workers added more information on how genetics shapes the human face.

The exceptional range of shapes and sizes of the human face is principally due to genetics. Earlier research works have associated more than 100 genetic sites with facial characteristics; however, a majority of this research included only European or Asian populations.

The current research by Liu and co-workers concentrated on an East African population to widen the understanding of the genetic factors behind human facial features.

The researchers examined 2,595 3D facial images gathered from Tanzanian children and scanned their genomes to identify genetic sites associated with specific features. The scientists found 20 regions on the genome linked to face shape.

Most of these genetic variants play a role in embryonic cells that give rise to facial structures very early in life—about three to six weeks after conception. Ten of the genetic sites were earlier pinpointed in European populations, implying that the genetic basis for human face shape is partially shared across populations.

Our findings confirm that the genes connected to human facial features are basically the same across populations. Observed differences were mostly explained by how frequently an allele occurs in a given population. By comparing populations, we were able to uncover genetic signals that would otherwise remain obscured and narrow the field of genetic variants that are functionally impacting facial traits.”

John Shaffer, University of Pittsburgh

The recent research in Tanzanians revealed novel sites and genes probably related to face shape and also enhanced the understanding of sites that were already known in Europeans.

In general, the results provide insight into the genetic and biological basis supporting the diversity of human facial structures. The findings may also shed light on the biological mechanisms responsible for face formation and the causes of facial deformities.

Journal reference:

Liu, C., et al. (2021) Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations. PLOS Genetics.


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