中国汉族人群脸部特征相关SNP位点研究
收稿日期: 2020-03-09
修回日期: 2020-05-20
网络出版日期: 2020-05-21
基金资助
国家重点研发项目编号(2017YFC0803501);中央级公益类科研院所基本科研业务费专项资金编号(2018JB046);项目和国家科技资源共享服务平台计划项目资助编号(YCZYPT[2017]01-3);项目和国家科技资源共享服务平台计划项目资助编号(2017JB025)
Human facial shape related SNP analysis in Han Chinese populations
Received date: 2020-03-09
Revised date: 2020-05-20
Online published: 2020-05-21
Supported by
Supported by the National Key R&D Program of China No(2017YFC0803501);Central Public-Interest Scientific Institution Basal Research Fund No(2018JB046);Central Public-Interest Scientific Institution Basal Research Fund (No. 2018JB046), and the National Science and Technological Resources Platform Nos(YCZYPT[2017]01-3);Central Public-Interest Scientific Institution Basal Research Fund (No. 2018JB046), and the National Science and Technological Resources Platform Nos(2017JB025)
脸部形态是人类重要的生物特征之一,了解脸部形态特征的遗传基础在群体遗传学、发育生物学和法庭科学中具有重要意义。本研究针对中国汉族成年男性人群1177名个体,在高分辨率三维人脸图像的17个脸部特征点中提取出136组欧几里德距离(Euclidean distance)表型。结合3×低深度测序数据,用线性回归分析了125个已报道的与脸部形态显著相关的SNP位点和136组脸部表型之间的相关性。结果表明,在经过多重校正后,来自10个不同基因区域的12个SNP位点与一个或多个脸部特征显著相关(显著性阈值P<1.35×10 -3),解释了年龄和BMI指数校正后3.89%脸部表型差异。相关SNP位点包括TEX41 rs17479393,PAX3 rs974448、RAB7A/ACAD9 rs2977562、DCHS2 rs9995821、DCHS2 rs2045323、C5orf50 rs6555969、SUPT3H/RUNX2 rs1852985、MSRA rs11782517、EYA1 rs10504499、GSC rs2224309、DICER1 rs7161418和DHX35 rs2206437。本研究结果对揭示中国汉族人群脸部形态的遗传机制和脸部特征的遗传推断提供了参考数据。
关键词： 脸部形态; 线性回归; 中国汉族人群; 脸部特征相关SNP位点
刘明, 李祎, 杨亚芳, 晏于文, 刘凡, 李彩霞, 曾发明, 赵雯婷 . 中国汉族人群脸部特征相关SNP位点研究[J]. 遗传, 2020 , 42(7) : 680 -690 . DOI: 10.16288/j.yczz.19-355
Human facial morphology is one of the important visible biological characteristics. Understanding the genetic basis underlying facial shape traits has important implications in population genetics, developmental biology, and forensic science. This study extracted 136 Euclidean distance phenotypes from 17 facial features of high-resolution 3D facial images in 1177 Chinese Han adult males. Based on 3× low-depth sequencing data, linear regression was used to analyze the correlation between 125 reported SNPs significantly associated with facial morphology and 136 facial phenotypes. As a result, a total of twelve SNPs from ten genes demonstrated significant association with one or more facial shape traits after adjusting for multiple testing (significance threshold P < 1.35 × 10 -3 ), together explaining up to 3.89% of age-, and BMI-adjusted facial phenotype variance. These included TEX41 rs17479393, PAX3 rs974448, RAB7A/ACAD9 rs2977562, DCHS2 rs9995821, DCHS2 rs2045323, C5orf50 rs6555969, SUPT3H/RUNX2 rs1852985, MSRA rs11782517, EYA1 rs10504499, GSC rs2224309, DICER1 rs7161418 and DHX35 rs2206437.These results revealed the genetics basis of facial morphology of Han Chinese population, and provided reference data for DNA-based face prediction.
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