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

被引：54

作者：

Crouch, Daniel J. M. ^{[1
,2
]}

Winney, Bruce ^{[1
,2
]}

Koppen, Willem P. ^{[3
]}

Christmas, William J. ^{[3
]}

Hutnik, Katarzyna ^{[1
,2
]}

Day, Tammy ^{[1
,2
]}

Meena, Devendra ^{[1
,2
]}

Boumertit, Abdelhamid ^{[1
,2
]}

Hysi, Pirro ^{[4
]}

Nessa, Ayrun ^{[4
]}

Spector, Tim D. ^{[4
]}

Kittler, Josef ^{[3
]}

Bodmer, Walter F. ^{[1
,2
]}

机构：

[1] Univ Oxford, Weatherall Inst Mol Med, Canc & Immunogenet Lab, Oxford OX3 9DS, England

[2] Univ Oxford, Dept Oncol, Oxford OX3 7DQ, England

[3] Univ Surrey, Dept Elect Engn, Ctr Vis Speech & Signal Proc, Guildford GU2 7XH, Surrey, England

[4] Kings Coll London, St Thomas Hosp, TwinsUK, London SE1 7EH, England

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2018年 / 115卷 / 04期

基金：

英国惠康基金; 英国工程与自然科学研究理事会;

关键词：

human genetics; facial features; SNPs; 3D imaging; additive genetic value; GENOME-WIDE ASSOCIATION; MUCOLIPIDOSIS TYPE-IV; EXPRESSION; MORPHOLOGY; PLINK;

D O I：

10.1073/pnas.1708207114

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：E676 / E685

页数：10

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