EDARV370A Associated Facial Characteristics in Uyghur Population Revealing Further Pleiotropic Effects
Hum Genet (2016) 135:99–108 DOI 10.1007/s00439-015-1618-6 ORIGINAL INVESTIGATION EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects Qianqian Peng1,2 · Jinxi Li1,2 · Jingze Tan2 · Yajun Yang2,3 · Manfei Zhang1,2 · Sijie Wu1,2 · Yu Liu1,2 · Juan Zhang2,3 · Pengfei Qin1 · Yaqun Guan4 · Yi Jiao4 · Zhaoxia Zhang4 · Pardis C. Sabeti5,6 · Kun Tang1 · Shuhua Xu1,2,7 · Li Jin1,2,3 · Sijia Wang1,2 Received: 23 October 2015 / Accepted: 14 November 2015 / Published online: 24 November 2015 © Springer-Verlag Berlin Heidelberg 2015 Abstract An adaptive variant of human Ectodyspla- is significantly associated with several facial characteris- 6 sin receptor, EDARV370A, had undergone strong positive tics, in particular shape of earlobe (P 3.64 10− ) and 5 = × selection in East Asia. In mice and humans, EDARV370A type of chin (P 9.23 10− ), with successful replica- = × was found to affect ectodermal-derived characteristics, tion in other East Asian populations. Additionally, in this including hair thickness, hair shape, active sweat gland Uyghur population, we replicate previous association find- 7 density and teeth formation. Facial characteristics are ings of incisors shoveling (P 1.02 10− ), double inci- = 12 × also largely ectodermal derived. In this study, taking sors shoveling (P 1.86 10− ) and hair straightness 16= × advantage of an admixed population of East Asian and (P 3.99 10− ), providing strong evidence supporting = × European ancestry—the Uyghur, we aim to test whether an additive model for the EDARV370A associations. Partial EDARV370A is affecting facial characteristics and to least square path model confirms EDARV370A systemati- investigate its pleiotropic nature and genetic model.
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