Yang T-L, Zhao L-J, Liu Y-J, Liu J-F, Recker R R, Deng H-W
Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, 710049, People's Republic of China.
Calcif Tissue Int. 2006 Apr;78(4):212-7. doi: 10.1007/s00223-005-0267-5. Epub 2006 Apr 13.
Bone mineral density (BMD) is a complex trait having genetic and environmental determination. There are gender-specific differences in BMD measurements, and the rate of BMD changes with age and lifestyle. Previous studies have shown that the genetic loci underlying BMD variation are gender-specific in mice and humans. Our study aimed to investigate correlations between BMD at the spine, hip, and ultradistal radius (UD) and degree of shared genetic and environmental factors among them in females and males, separately. For a large sample of 4,489 subjects containing 2,667 females and 1,822 males from 512 Caucasian pedigrees, we performed bivariate variance decomposition analyses. Our results showed that the genetic correlations (rhoG), environmental correlations (rhoE), and phenotypical correlations (rhoP) were all significant and positive. Strong genetic correlations were observed in both female and male groups, ranging 0.590-0.738 and 0.583-0.773, respectively. Genetic correlations of BMD at the spine, hip, and UD were generally higher than environmental correlations. In summary, we are the first to test the genetic and environmental correlations in females and males, separately. It is suggested that the phenotypic correlations of BMDs at the three different sites may have more genetic than environmental components. BMDs at the spine and hip may share more environmental components in females than males. We did not detect gender-specific difference in spine/UD and hip/UD. It is also indicated that the environmental factors that preserve or increase BMD at one skeletal site may have similar beneficial effects on some other skeletal sites and vice versa.
骨密度（BMD）是一种具有遗传和环境决定因素的复杂性状。骨密度测量存在性别差异，且骨密度随年龄和生活方式而变化。先前的研究表明，在小鼠和人类中，骨密度变异的遗传位点具有性别特异性。我们的研究旨在分别调查女性和男性脊柱、髋部和桡骨远端（UD）的骨密度之间的相关性，以及它们之间共享的遗传和环境因素程度。对于来自512个白种人家系的4489名受试者的大样本，其中包括2667名女性和1822名男性，我们进行了双变量方差分解分析。我们的结果表明，遗传相关性（rhoG）、环境相关性（rhoE）和表型相关性（rhoP）均显著且为正。在女性和男性组中均观察到很强的遗传相关性，分别为0.590 - 0.738和0.583 - 0.773。脊柱、髋部和UD处骨密度的遗传相关性通常高于环境相关性。总之，我们首次分别测试了女性和男性的遗传和环境相关性。结果表明，三个不同部位骨密度的表型相关性可能更多地由遗传而非环境因素构成。女性脊柱和髋部的骨密度可能比男性共享更多的环境因素。我们未检测到脊柱/UD和髋部/UD之间的性别特异性差异。这也表明，在一个骨骼部位维持或增加骨密度的环境因素可能对其他一些骨骼部位有类似的有益影响，反之亦然。
