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. 2018 Jan 23;115(4):E676-E685.
doi: 10.1073/pnas.1708207114. Epub 2018 Jan 4.

Genetics of the human face: Identification of large-effect single gene variants

Daniel J M Crouch  1   2 , Bruce Winney  1   2 , Willem P Koppen  3 , William J Christmas  3 , Katarzyna Hutnik  1   2 , Tammy Day  1   2 , Devendra Meena  1   2 , Abdelhamid Boumertit  1   2 , Pirro Hysi  4 , Ayrun Nessa  4 , Tim D Spector  4 , Josef Kittler  3 , Walter F Bodmer  5   2
Affiliations

Genetics of the human face: Identification of large-effect single gene variants

Daniel J M Crouch et al. Proc Natl Acad Sci U S A. .

Abstract

To discover specific variants with relatively large effects on the human face, we have devised an approach to identifying facial features with high heritability. This is based on using twin data to estimate the additive genetic value of each point on a face, as provided by a 3D camera system. In addition, we have used the ethnic difference between East Asian and European faces as a further source of face genetic variation. We use principal components (PCs) analysis to provide a fine definition of the surface features of human faces around the eyes and of the profile, and chose upper and lower 10% extremes of the most heritable PCs for looking for genetic associations. Using this strategy for the analysis of 3D images of 1,832 unique volunteers from the well-characterized People of the British Isles study and 1,567 unique twin images from the TwinsUK cohort, together with genetic data for 500,000 SNPs, we have identified three specific genetic variants with notable effects on facial profiles and eyes.

Keywords: 3D imaging; SNPs; additive genetic value; facial features; human genetics.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1.
Fig. 1.
Points, highlighted in red, constituting the profile (A) and eyes (B) subregions, with the scale for both axes in millimeters.
Fig. 2.
Fig. 2.
Comparison of profile heritabilities for original values vs. AGVs.
Fig. 3.
Fig. 3.
(A) Volcano plot for female lower (more European) extreme PC2 profile. Green lines show the upper and lower thresholds for ORs and the upper threshold for the P values. Only the green dot satisfies the criteria for further analysis. (B) Distribution of PC values for the PC2 profile in UK (PoBI) and East Asian individuals, with the East Asian distribution magnified in size by 10 for visualization purposes. Dotted lines show the thresholds for the upper and lower 10% of individuals.
Fig. 4.
Fig. 4.
PC2 profile: Average faces, using the original variables, for 14 East Asian females (A) and the upper 10% (more East Asian) (B) and lower 10% (more European) (C) extremes of the PoBI females.
Fig. 5.
Fig. 5.
Average profile PC7 female faces, using the original variables, for the upper 10% (A) and lower 10% (C) extremes and the overall average (B).
Fig. 6.
Fig. 6.
Average eyes phenotype, using the original variables, for PC1 (females only) for the upper 10% (A) and lower 10% (C) extremes and the overall average (B).
Fig. 7.
Fig. 7.
Bar graphs of frequencies of minor allele homozygotes and heterozygotes at 5% quantiles for the three replicated SNP associations. Percentage quantiles are labeled on the x axis. (A) rs2045145 profile lower extreme PC2 association. (B) rs11642644 profile upper extreme PC7 association. (C) rs7560738 eyes upper extreme PC1 association.
See this image and copyright information in PMC

References

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