高级检索+
  • 摘要: 人类面部形态由神经外胚层发育而来,是区别个体的最显著特征之一。研究人面部特征的遗传机制可为生物医学、司法鉴定等应用领域提供依据。虽然目前已经在正常人群和患病人群中发现了一些与面部特征相关的基因,但是还有许多面部特征的基因有待发现。本研究基于拉美人群进化和多样性研究联合会(consortium for the analysis of the diversity and evolution of Latin America, CANDELA)队列中的1 140个秘鲁健康人群,通过标定其面部的47个特征点来计算中部和下部脸部面积,并计算47个特征点之间的欧式距离,以其结果作为表型;与约七十万个单核苷酸多态性(single nucleotide polymorphisms, SNPs)的全基因组分型数据进行全基因组关联分析(genome-wide association study, GWAS),并在CANDELA队列中的384个巴西和智利的独立健康人群中进行结果验证。本研究用一个加性遗传模型来进行线性回归关联检验,其中因变量为表型的数量性状,协变量为年龄、性别、身体质量指数(body mass index, BMI)及基因组群体分层分析中的前5个主成分(principal components, PCs)。研究结果表明,位于LD基因区(EDAR, LIMS1, RANBP2, SULT1C4, CCDC138, GCC2)的17个单核苷酸多态性与7个数量表型有很强的相关性;其中EDAR作为影响头面发育的一因多效性基因,在本研究中影响中部颅面形态。

     

    Abstract: The human face develops from neuroectoderm, and it is one of the most significant characteristics of individual recognition. The study of facial features and their genetic factors could provide help for biomedicine and forensics etc. Although some genes have been identified for various normal and abnormal facial phenotypes, there are still a lot of genes needing to be discovered. In this study, a GWAS using about 700 000 genome-wide markers from 1 140 Peruvians in CANDELA(Consortium for the analysis of the diversity and lvolution of Latin America)was conducted. Many traits were assessed in these samples using 47 landmarks to obtain quantitative measurements, such as middle and lower facial areas, lateral Euclidean distances between 47 landmarks. The results were also tested in a different 384 Brazil & Chile CANDELA samples. Association tests were conducted by multivariate linear regression with an additive genetic model considering age, sex, BMI(Body mass index), and five genetic PCs(Principal component) as covariates. The result shows that 17 SNPs(Single nucleotide polymorphisms) situated in LD gene regions(EDAR, LIMS1, RANBP2, SULT1 C4, CCDC138, GCC2) show strong associations with 7 quantitative phenotypes. EDAR is a pleiotropic gene affecting the development of head and face, which affects the middle craniofacial morphology in this study.

     

/

返回文章
返回