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

Daniel J M Crouch; Bruce Winney; Willem P Koppen; William J Christmas; Katarzyna Hutnik; Tammy Day; Devendra Meena; Abdelhamid Boumertit; Pirro Hysi; Ayrun Nessa; Tim D Spector; Josef Kittler; Walter F Bodmer

doi:10.1073/pnas.1708207114

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

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

Research output: Contribution to journal › Article › peer-review

53 Citations (Scopus)

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.

Original language	English
Journal	Proceedings of the National Academy of Sciences of the United States of America
DOIs	https://doi.org/10.1073/pnas.1708207114
Publication status	Published - 4 Jan 2018

Access to Document

10.1073/pnas.1708207114

Cite this

Crouch, D. J. M., Winney, B., Koppen, W. P., Christmas, W. J., Hutnik, K., Day, T., Meena, D., Boumertit, A., Hysi, P., Nessa, A., Spector, T. D., Kittler, J., & Bodmer, W. F. (2018). Genetics of the human face: Identification of large-effect single gene variants. Proceedings of the National Academy of Sciences of the United States of America. https://doi.org/10.1073/pnas.1708207114

@article{bb9f1411a39647a2b811afecd8126a1c,

title = "Genetics of the human face: Identification of large-effect single gene variants",

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.",

author = "Crouch, {Daniel J M} and Bruce Winney and Koppen, {Willem P} and Christmas, {William J} and Katarzyna Hutnik and Tammy Day and Devendra Meena and Abdelhamid Boumertit and Pirro Hysi and Ayrun Nessa and Spector, {Tim D} and Josef Kittler and Bodmer, {Walter F}",

year = "2018",

month = jan,

day = "4",

doi = "10.1073/pnas.1708207114",

language = "English",

journal = "Proceedings of the National Academy of Sciences of the United States of America",

issn = "0027-8424",

publisher = "National Acad Sciences",

}

TY - JOUR

T1 - Genetics of the human face

T2 - Identification of large-effect single gene variants

AU - Crouch, Daniel J M

AU - Winney, Bruce

AU - Koppen, Willem P

AU - Christmas, William J

AU - Hutnik, Katarzyna

AU - Day, Tammy

AU - Meena, Devendra

AU - Boumertit, Abdelhamid

AU - Hysi, Pirro

AU - Nessa, Ayrun

AU - Spector, Tim D

AU - Kittler, Josef

AU - Bodmer, Walter F

PY - 2018/1/4

Y1 - 2018/1/4

N2 - 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.

AB - 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.

U2 - 10.1073/pnas.1708207114

DO - 10.1073/pnas.1708207114

M3 - Article

C2 - 29301965

SN - 0027-8424

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

ER -

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

Abstract

Access to Document

Fingerprint

Cite this