Send to

Choose Destination
Yi Chuan. 2018 Nov 20;40(11):1024-1032. doi: 10.16288/j.yczz.18-268.

[The effect of EDARV370A on facial and ear morphologies in Uyghur population].

[Article in Chinese]

Author information

CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics,Chinses Academy of Science, Beijing 100101, China.
Life Sciences College, University of Chinese Academy of Sciences, Beijing 100049, China.
National Engineering Laboratory for Forensic Science, Key Laboratory of Forensic Genetics of Ministry of Public Security, Beijing Engineering Research Center of Crime Scene Evidence Examination, Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China.
CAS-MPG Partner Institute and Key Laboratory for Computational Biology, Shanghai Institutes for Biological Sciences, ;Chinese Academy of Sciences, Shanghai 200031, China.
Institution of Forensic Science of Bingtuan Public Security Bureau, Urumqi 833000, China.
Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam 3000 CA, The Netherlands.


The ectodysplasinA receptor gene (EDAR) plays an important role in the development of ectoderm. The derived G allele of its key missense variant EDARV370A is prevalent in East Asians and Americans, but rare in Africans and Europeans. This leads to distinct ectodermal-derived phenotypes between different continental groups, such as the straighter and thicker hair, more eccrine sweat glands, feminine smaller breasts, shovel incisors characteristic of East Asians. At present, we know little about the association between EDARV370A and facial and ear morphology characteristics. To better understand the effect of EDARV370A on craniofacial phenotypes, we systematically examined the association between EDARV370A and 136 facial quantitative phenotypes, one chin ordinal phenotype and six ear ordinal phenotypes in 715 Uyghurs. The quantitative phenotypes were derived by applying our automated landmark annotation method to facial 3D photos and the ordinal phenotypes were manually graded from facial 2D photos. The analysis identified significant association (P<0.05 after multiple testing correction) between EDARV370A and eight facial phenotypes, one chin phenotype and three ear morphology phenotypes. Our study thus elucidated the pleotropic effect of EDARV370A on craniofacial phenotypes in a European-Asian admixed Uyghur population.

[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center