Wang Yan-Bo, Lei Shu-Feng, Dvornyk Volodymyr, Sun Xiao, Jiang De-Ke, Li Miao-Xin, Deng Hong-Wen
Laboratory of Molecular and Statistical Genetics and the Key Laboratory of Protein Chemistry and Developmental Biology of Ministry of Education, College of Life Sciences, Hunan Normal University, Changsha, Hunan, PR China.
Ann Hum Biol. 2006 Jul-Aug;33(4):500-9. doi: 10.1080/03014460600814135.
Bone mineral density (BMD), bone mineral content (BMC), and bone size have been widely studied individually as important risk factors for osteoporotic fracture, but little is known about the correlation and the degree of sharing genetic and environmental factors between the pairs of the three phenotypes.
The study investigated genetic correlation (rhoG), environmental correlation (rhoE) and phenotypic correlation (rhoP) between BMD, BMC and bone size.
Bivariate variance decomposition analyses were performed in 904 subjects from 287 Chinese nuclear families.
Significant rhoE, rhoG and rhoP were detected between BMD, BMC and bone size, except for rhoE between BMD and bone size at the hip (rhoE = 0.121, p = 0.361). Common shared genetic factors explained 86.1% and 60% of BMD and BMC genetic variations at the spine and hip, respectively. However, the genetic and environmental correlations between BMD and bone size were limited. rhoE and rhoG at the spine were 0.392 and 0.381, and at the hip were 0.121 and -0.205, respectively. Only 14.5% and 4.2% of variations between BMD and bone size at the spine and hip may be due to the shared genetic factors.
The obtained results suggested that bone size may be used as another surrogate phenotype independently of BMD for eventual elucidation of the pathogenesis of osteoporosis because of the limited correlations between BMD and bone size.
骨密度（BMD）、骨矿物质含量（BMC）和骨大小已被分别广泛研究为骨质疏松性骨折的重要危险因素，但对于这三种表型两两之间遗传和环境因素的相关性及共享程度知之甚少。
本研究调查BMD、BMC和骨大小之间的遗传相关性（rhoG）、环境相关性（rhoE）和表型相关性（rhoP）。
对来自287个中国核心家庭的904名受试者进行双变量方差分解分析。
在BMD、BMC和骨大小之间检测到显著的rhoE、rhoG和rhoP，但髋部BMD与骨大小之间的rhoE除外（rhoE = 0.121，p = 0.361）。共同的遗传因素分别解释了脊柱和髋部BMD和BMC遗传变异的86.1%和60%。然而，BMD与骨大小之间的遗传和环境相关性有限。脊柱处的rhoE和rhoG分别为0.392和0.381，髋部处分别为0.121和 -0.205。脊柱和髋部BMD与骨大小之间仅有14.5%和4.2%的变异可能归因于共享的遗传因素。
所得结果表明，由于BMD与骨大小之间相关性有限，骨大小可作为独立于BMD的另一种替代表型，用于最终阐明骨质疏松症的发病机制。
