Skeletal Growth and the Changing Genetic Landscape during Childhood and Adulthood

Skeletal Growth and the Changing Genetic Landscape during Childhood and Adulthood
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DOI:
10.1002/ajpa.22183
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发表时间:
2013-01-01
影响因子:
2.8
通讯作者:
Sherwood, Richard J.
Sherwood, Richard J.
中科院分区:
地球科学2区
文献类型:
--
作者:
Duren, Dana L.;Seselj, Maja;Sherwood, Richard J.

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人类骨骼的生长、发育和衰退对体质人类学具有重要意义。骨骼生长的所有过程(纵向生长以及骨量的获得和损失)都受到环境和遗传的影响。这些影响,以及它们对表型的相对贡献,可以在生命的任何阶段被断言。我们在这里提出了四个骨骼特征的总表型和遗传景观,并显示它们如何在整个生命周期中变化。表型性别差异在骨直径和皮质指数(皮质厚度与骨直径的比率)中发现,在很小的年龄,并在整个生命的大部分时间持续。然而,皮质厚度和骨长度的两性异形直到青春期生长突增后不久才明显。这些骨骼表型的遗传贡献(遗传力)通常是中度到高度。骨长度和骨直径(两者都与身体大小有关)往往具有最高的遗传力,骨长度的遗传力在各个年龄段相当稳定(在幼儿期有明显的下降),骨直径的遗传力在幼儿期达到峰值。骨性状加总的皮质厚度和皮质指数可能更好地反映骨量,一种更具可塑性的现象,平均而言遗传影响略低。从我们的表型和遗传景观的结果服务于三个关键目的:1)骨骼形式的遗传和环境基础的综合性质的示范,2)骨的遗传和环境影响的相对敏感性的时期的识别,3)和刺激的假设预测暴露于环境变量对骨骼的影响,在潜在的遗传结构的变化。美国物理人类学杂志150:48-57,2013.(C)2012 Wiley Periodicals,Inc.
Growth, development, and decline of the human skeleton are of central importance to physical anthropology. All processes of skeletal growth (longitudinal growth as well as gains and losses of bone mass) are subjected to environmental and genetic influences. These influences, and their relative contributions to the phenotype, can be asserted at any stage of life. We present here the gross phenotypic and genetic landscapes of four skeletal traits, and show how they vary across the life span. Phenotypic sex differences are found in bone diameter and cortical index (a ratio of cortical thickness over bone diameter) at a very early age and continue throughout most of life. Sexual dimorphism in summed cortical thickness and bone length, however, is not evident until shortly after the pubertal growth spurt. Genetic contributions (heritability) to these skeletal phenotypes are generally moderate to high. Bone length and bone diameter (which both scale with body size) tend to have the highest heritability, with heritability of bone length fairly stable across ages (with a notable dip in early childhood) and that of bone diameter peaking in early childhood. The bone traits summed cortical thickness and cortical index that may better reflect bone mass, a more plastic phenomenon, have slightly lower genetic influences, on average. Results from our phenotypic and genetic landscapes serve three key purposes: 1) demonstration of the integrated nature of the genetic and environmental underpinnings of skeletal form, 2) identification of periods of bone's relative sensitivity to genetic and environmental influences, 3) and stimulation of hypotheses predicting the effects of exposure to environmental variables on the skeleton, given variation in the underlying genetic architecture. Am J Phys Anthropol 150:48-57, 2013. (C)2012 Wiley Periodicals, Inc.