Yang Yan-Jun, Dvornyk Volodymyr, Jian Wei-Xia, Xiao Su-Mei, Deng Hong-Wen
Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China.
Osteoporos Int. 2005 Sep;16(9):1134-40. doi: 10.1007/s00198-004-1825-9. Epub 2005 Feb 12.
Height, weight, bone mineral density (BMD), and bone size are all influenced by genetic and environmental factors as well as interactions between them. Height and weight are often used in population studies to adjust the bone phenotypes. However, it is still unknown what proportion of genetic and environmental variability is shared between these anthropometric characteristics and the bone phenotypes. The genetic and environmental correlations between the bone phenotypes and anthropometric indices in Chinese subjects were studied by bivariate quantitative genetic analysis on a sample of 931 healthy subjects from 292 Chinese nuclear families aged from 19 to 79 years. BMD and bone size at the lumbar spine (L1-L4) and the hip of all subjects were measured by dual-energy X-ray absorptiometry. We found significant genetic correlations between weight and spine BMD, hip BMD, spine bone size and hip bone size, which were 0.50 (P<0.01), 0.45 (P<0.01), 0.36 (P=0.02), and 0.38 (P<0.01), respectively. Likewise, significant genetic correlations between height and spine BMD, spine bone size, and hip bone size were 0.30 (P=0.02), 0.54 (P<0.01), and 0.58 (P<0.01), respectively. The environmental correlations were found to be significant only between height and spine bone size (P<0.001) and weight and hip BMD (P=0.02). These results suggest the probability that the same genetic and environmental factors contribute to these different phenotypes. Moreover, when a candidate gene or genomic region is responsible for the variation of both bone phenotypes and anthropometric indices, its true genetic effect on the bone phenotypes may be lost after one has adjusted the phenotypic values with weight and height as random environmental factors. It may have implications for population studies of candidate genes that underlie the complex bone phenotypes and for the development of strategies for therapeutic application.
身高、体重、骨矿物质密度（BMD）和骨骼大小均受遗传和环境因素及其相互作用的影响。在人群研究中，身高和体重常被用于校正骨骼表型。然而，这些人体测量特征与骨骼表型之间的遗传和环境变异共享比例仍不清楚。通过对来自292个中国核心家庭、年龄在19至79岁的931名健康受试者样本进行双变量定量遗传分析，研究了中国受试者骨骼表型与人体测量指标之间的遗传和环境相关性。采用双能X线吸收法测量了所有受试者腰椎（L1-L4）和髋部的骨密度和骨骼大小。我们发现体重与脊柱骨密度、髋部骨密度、脊柱骨骼大小和髋部骨骼大小之间存在显著的遗传相关性，分别为0.50（P<0.01）、0.45（P<0.01）、0.36（P=0.02）和0.38（P<0.01）。同样地，身高与脊柱骨密度、脊柱骨骼大小和髋部骨骼大小之间的显著遗传相关性分别为0.30（P=0.02）、0.54（P<0.01）和0.58（P<0.01）。仅在身高与脊柱骨骼大小（P<0.001）以及体重与髋部骨密度（P=0.02）之间发现了显著的环境相关性。这些结果表明，相同的遗传和环境因素可能导致这些不同表型。此外，当一个候选基因或基因组区域对骨骼表型和人体测量指标的变异均有影响时，在以体重和身高作为随机环境因素校正表型值后，其对骨骼表型的真实遗传效应可能会丧失。这可能对复杂骨骼表型潜在候选基因的人群研究以及治疗应用策略的制定产生影响。
