EDARV370A对新疆维吾尔族人群面部及耳朵形态的效应

doi:10.16288/j.yczz.18-268

遗传 ›› 2018, Vol. 40 ›› Issue (11): 1024-1032.doi: 10.16288/j.yczz.18-268

EDARV370A对新疆维吾尔族人群面部及耳朵形态的效应

李祎^1,²,赵雯婷³,李丹⁴,陶现明^1,²,熊子义^1,²,刘京³,张微³,刘海渤⁵,季安全³,唐鲲⁴,刘凡^1,^2,⁶(),李彩霞³()

^1. 中国科学院北京基因组研究所,中国科学院精准基因组医学重点实验室,北京 100101
^2. 中国科学院大学生命科学学院,北京 100049
^3. 公安部物证鉴定中心,现场物证溯源技术国家工程实验室,法医遗传学公安部重点实验室,北京市现场物证检验工程技术研究中心,北京 100038
^4. 中国科学院上海生命科学研究院,中科院-马普学会计算生物学伙伴研究所,上海200031
^5. 新疆生产建设兵团公安局,乌鲁木齐 833000
^6. 荷兰鹿特丹伊拉兹马斯大学医学中心遗传鉴定系,鹿特丹 3000 CA,荷兰

收稿日期:2018-09-19 修回日期:2018-11-01 出版日期:2018-11-20 发布日期:2018-11-09
通讯作者: 刘凡,李彩霞 E-mail:liufan@big.ac.cn;licaixia@tsinghua.org.cn
作者简介:李祎,硕士研究生,专业方向：生物信息学。E-mail: liyi@big.ac.cn|赵雯婷,博士,副主任法医师,研究方向：法医遗传学。E-mail: wtzhao@sibs.ac.cn，李祎和赵雯婷并列第一作者。
基金资助:
国家重点研发项目(2017YFC0803501);中央级公益类科研院所基本科研业务费专项资金(2018JB046);现场物证溯源技术国家工程实验室开放课题;中国科学院精准基因组医学重点实验室开放基金，青年千人计划项目和首都科技领军人才培养工程项目(Z18110006318006);生物样本由国家科技资源共享服务平台计划项目提供(YCZYPT[2017]01-3);生物样本由国家科技资源共享服务平台计划项目提供(2017JB025)

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

Li Yi^1,²,Zhao Wenting³,Li Dan⁴,Tao Xianming^1,²,Xiong Ziyi^1,²,Liu Jing³,Zhang Wei³,Liu Haibo⁵,Ji Anquan³,Tang Kun⁴,Liu Fan^1,^2,⁶(),Li Caixia³()

^1. CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics,Chinses Academy of Science, Beijing 100101, China
^2. Life Sciences College, University of Chinese Academy of Sciences, Beijing 100049, China
^3. 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
^4. CAS-MPG Partner Institute and Key Laboratory for Computational Biology, Shanghai Institutes for Biological Sciences, ;Chinese Academy of Sciences, Shanghai 200031, China
^5. Institution of Forensic Science of Bingtuan Public Security Bureau, Urumqi 833000, China
^6. Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam 3000 CA, The Netherlands

Received:2018-09-19 Revised:2018-11-01 Online:2018-11-20 Published:2018-11-09
Contact: Liu Fan,Li Caixia E-mail:liufan@big.ac.cn;licaixia@tsinghua.org.cn
Supported by:
Supported by the National Key R&D Program of China(2017YFC0803501);Central Public-Interest Scientific Institution Basal Research Fund(2018JB046);Open Projects of National Engineering Laboratory for Forensic Evidence Traceability Technology (No. 2017NELKFKT05);“the Open Project of Key Laboratory of Genomic and Precision Medicine, Chinese Academy of Sciences”, “The Thousand Talents Plan for Young Professionals” and “The Beijing Leading Talent Program ”(Z18110006318006);Biological Samples were Provided by National Science and Technological Resources Platform(YCZYPT[2017]01-3);Biological Samples were Provided by National Science and Technological Resources Platform(2017JB025)

摘要/Abstract

摘要：

外异蛋白受体基因(ectodysplasin A receptor,EDAR)是调控外胚层发育的重要基因。其关键错义突变EDARV370A的衍生等位基因370A在东亚和美洲原住民中具有很高的频率,但在非洲和欧洲罕见,该突变造成这些人群许多外胚层发育衍生表型的差异,包括东亚人特有的较直且厚的头发、较多的外泌汗腺、女性较小的乳房及铲形门齿等。目前,EDARV370A与同为外胚层衍生表型的人类头面部及耳部形态特征的关联尚不十分明确。本研究在715例新疆维吾尔族亚欧混合人群中,进行了EDARV370A与一系列系统的面部形态特征及耳朵形态表型的关联分析,以期更全面系统地理解EDARV370A对面部和耳朵形态的影响。研究表型包括利用本课题组近期发表的对三维面部照片自动化面部地标点标记方法获得的136个面部定量表型、1个下巴类型的定序分类表型以及6个耳朵形态的定序分类表型。研究发现EDARV370A与8个面部形态的定量表型、下巴类型以及3个耳朵形态定序分类表型显著相关(多重检验校正后P<0.05)。本研究结果进一步明确了EDARV370A的遗传多效性及其在亚欧混合人群中对面部和耳朵形态的影响。

关键词: EDARV370A, 面部形态, 耳朵形态, 关联性, 亚欧混合人群, 新疆维吾尔族

Abstract:

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.

Key words: EDARV370A, facial morphology, ear morphology, association, European-Asian admixed population, Uyghur

李祎,赵雯婷,李丹,陶现明,熊子义,刘京,张微,刘海渤,季安全,唐鲲,刘凡,李彩霞. EDARV370A对新疆维吾尔族人群面部及耳朵形态的效应[J]. 遗传, 2018, 40(11): 1024-1032.

Li Yi,Zhao Wenting,Li Dan,Tao Xianming,Xiong Ziyi,Liu Jing,Zhang Wei,Liu Haibo,Ji Anquan,Tang Kun,Liu Fan,Li Caixia. The effect of EDARV370A on facial and ear morphologies in Uyghur population[J]. Hereditas(Beijing), 2018, 40(11): 1024-1032.

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EDARV370A对新疆维吾尔族人群面部及耳朵形态的效应

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

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