Jelenkovic Aline, Poveda Alaitz, Susanne Charles, Rebato Esther
Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, University of the Basque Country, Bilbao 48080, Spain.
Homo. 2010 Jun;61(3):191-203. doi: 10.1016/j.jchb.2009.10.003. Epub 2010 Feb 10.
The major objective of this study was to determine the possible effects of common genetic and environmental factors among 18 craniofacial anthropometric traits, with special attention to the differences between skeletal and soft-tissue related phenotypes. The studied sample consisted of 122 nuclear families living in Brussels and included 251 males and 258 females aged from 13 to 72 years. Univariate and bivariate quantitative genetic analyses were performed using a variance components procedure implemented in SOLAR software. All phenotypes were significantly influenced by additive genetic factors with heritability estimates ranging from 0.46 (nose height) to 0.72 (external biocular breadth). Sex, age and their interactions explained 7-46% of the total phenotypic variance of the traits. Bivariate analysis revealed that several traits share a common genetic and/or environmental basis while other traits show genetic and environmental independence from one another. More and greater genetic and environmental correlations were observed among skeletal phenotypes, than among soft-tissue traits and between both categories. Apart from the tissue composition, other characteristics of the craniofacial morphology such as the orientation (e.g. heights, breadths) have shown to be important factors in determining pleiotropy and common environmental effects between some pairs of traits. In conclusion, the results confirm that overall head configuration is largely determined by additive genetic effects, and that common genetic and environmental factors affecting craniofacial size and shape are stronger for the skeletal traits than for the soft-tissue traits.
本研究的主要目的是确定18种颅面人体测量特征中常见遗传和环境因素可能产生的影响,尤其关注骨骼相关和软组织相关表型之间的差异。研究样本包括居住在布鲁塞尔的122个核心家庭,其中有251名男性和258名女性,年龄在13至72岁之间。使用SOLAR软件中实施的方差成分程序进行单变量和双变量定量遗传分析。所有表型均受到加性遗传因素的显著影响,遗传力估计值范围从0.46(鼻高)到0.72(外眦间距)。性别、年龄及其相互作用解释了这些特征总表型方差的7%-46%。双变量分析表明,一些特征具有共同的遗传和/或环境基础,而其他特征则表现出遗传和环境上的相互独立性。与软组织特征之间以及两类特征之间相比,在骨骼表型之间观察到更多、更强的遗传和环境相关性。除了组织构成外,颅面形态的其他特征,如方向(如高度、宽度)已被证明是决定某些性状对之间多效性和共同环境效应的重要因素。总之,结果证实整体头部形态在很大程度上由加性遗传效应决定,并且影响颅面大小和形状的常见遗传和环境因素对骨骼特征的影响比对软组织特征的影响更强。