Journal
HUMAN GENETICS
Volume 135, Issue 1, Pages 99-108Publisher
SPRINGER
DOI: 10.1007/s00439-015-1618-6
Keywords
EDARV370A; Facial characteristics; Pleiotropic effect; Uyghur; Association study
Categories
Funding
- National Natural Science Foundation of China [31322030, 91331108, 30890034, 31271338, 91331204, 31171218, 31401061, 31071102, 31071096]
- National Science and Technology Infrastructure Program [2015FY111700]
- National Basic Research Program [2012CB944600]
- Ministry of Science and Technology [2011BAI09B00]
- Ministry of Education [311016]
- National High-Tech Research and Development Program [2012AA021802]
- Chinese Academy of Sciences [XDB13040100, 2014KIP214]
- National Program for Top-notch Young Innovative Talents of The Wanren Jihua Project
- National Thousand Young Talents Award
- Max Planck-CAS Paul Gerson Unna Independent Research Group Leadership Award
- State Key Laboratory of Genetic Engineering, Fudan University
- key lab of computational biology of Chinese Academy of Sciences
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An adaptive variant of human Ectodysplasin receptor, EDARV370A, had undergone strong positive selection in East Asia. In mice and humans, EDARV370A was found to affect ectodermal-derived characteristics, including hair thickness, hair shape, active sweat gland density and teeth formation. Facial characteristics are also largely ectodermal derived. In this study, taking advantage of an admixed population of East Asian and European ancestry-the Uyghur, we aim to test whether EDARV370A is affecting facial characteristics and to investigate its pleiotropic nature and genetic model. In a sample of 1027 Uyghurs, we discover that EDARV370A is significantly associated with several facial characteristics, in particular shape of earlobe (P = 3.64 x 10 (-6) ) and type of chin (P = 9.23 x 10 (-5) ), with successful replication in other East Asian populations. Additionally, in this Uyghur population, we replicate previous association findings of incisors shoveling (P = 1.02 x 10 (-7) ), double incisors shoveling (P = 1.86 x 10 (-12) ) and hair straightness (P = 3.99 x 10 (-16) ), providing strong evidence supporting an additive model for the EDARV370A associations. Partial least square path model confirms EDARV370A systematically affect these weakly related ectodermal-derived characteristics, suggesting the pleiotropic effect of EDARV370A mainly plays roles in early embryo development. This study extends our knowledge about the pleiotropic nature of EDARV370A and provides potential clues to its adaptation fitness in human evolution.
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