Chen Yuan, Guo Yan-Fang, Lei Shu-Feng, Wang Yan-Bo, Deng Hong-Wen
Laboratory of Molecular and Statistical Genetics, College of Life Science, Hunan Normal University, Changsha, Hunan 410081, PR China.
Hum Biol. 2007 Feb;79(1):15-24. doi: 10.1353/hub.2007.0023.
To explore the magnitude of common genetic and environmental effects shared by bone mineral density (BMD) and bone size (BS) in a large sample of 4,489 subjects (2,667 females and 1,822 males) from 582 Caucasian pedigrees, we performed a bivariate variance decomposition analysis to evaluate genetic correlation (rhoG), environmental correlation (rhoE), and phenotypic correlation (rhoP) between BMD and BS at the spine and hip, as well as their "synthesized" skeletal site (bone mineral density principal component, bone size principal component) generated by principal components analysis. Significant rhoG, rhoE, and rhoP were detected, but the shared genetic influence on BMD and BS was only 21%, 1.3%, and 11.6% at the spine, hip, and their joint variable, respectively. The results suggest that it may be important to choose both BMD and BS, especially at the hip, as surrogate phenotypes for osteoporosis genetic studies in Caucasians.
为了在来自582个白种人谱系的4489名受试者（2667名女性和1822名男性）的大样本中探究骨密度（BMD）和骨大小（BS）共有的常见遗传和环境效应的程度，我们进行了双变量方差分解分析，以评估脊柱和髋部的BMD与BS之间的遗传相关性（rhoG）、环境相关性（rhoE）和表型相关性（rhoP），以及通过主成分分析生成的它们的“综合”骨骼部位（骨密度主成分、骨大小主成分）。检测到显著的rhoG、rhoE和rhoP，但在脊柱、髋部及其联合变量上，BMD和BS共有的遗传影响分别仅为21%、1.3%和11.6%。结果表明，在白种人的骨质疏松症遗传研究中，选择BMD和BS两者作为替代表型可能很重要，尤其是在髋部。
