Deng Fei-Yan, Lei Shu-Feng, Li Miao-Xin, Jiang Cheng, Dvornyk Volodymyr, Deng Hong-Wen
Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, 410081, Hunan, People's Republic of China.
Osteoporos Int. 2006 Jan;17(1):119-24. doi: 10.1007/s00198-005-1930-4. Epub 2005 Jul 16.
The purpose of the present study was to evaluate the magnitude of genetic determination of spine and hip bone mineral density (BMD) and body mass index (BMI), and to explore the genetic, environmental, and phenotypic correlations among the above phenotypes in Chinese Han ethnicity. The sample was composed of at least 217 complete nuclear families in Chinese Han ethnicity. BMD at the spine and hip was measured using a dual-energy X-ray absorptiometry scanner. The heritability (h2) of BMI and BMD at the spine and hip, the genetic correlation (rhoG) and environmental correlation (rhoE) among the three phenotypes were evaluated via variance analysis, with age, sex, and age-by-sex interaction as covariates. The phenotypic correlation (rhoP) and the bivariate heritability rhoG2 were also calculated. The heritability for BMD and BMI was approximately 0.70 and approximately 0.50, respectively (p<0.0001). The common environment shared by household members (household effect) is significant for BMI variation (p=0.0004). Significant genetic, environmental, and phenotypic correlation was observed. The rhoG2 values were 0.13 for BMI/spine BMD, 0.18 for BMI/hip BMD, and 0.58 for the spine BMD/hip BMD. While BMD at the spine and hip have significant genetic determination, BMI is more likely to be affected by environmental factors than BMD. In addition, BMD at the spine and hip shares more genetic effect (pleiotropy) than BMI and BMD do in Chinese Han ethnicity, though the effects are significant for both.
本研究的目的是评估脊柱和髋部骨密度（BMD）以及体重指数（BMI）的遗传决定程度，并探讨上述表型在中国汉族人群中的遗传、环境和表型相关性。样本由至少217个完整的中国汉族核心家庭组成。使用双能X线吸收仪扫描仪测量脊柱和髋部的骨密度。通过方差分析评估BMI以及脊柱和髋部骨密度的遗传力（h2）、三种表型之间的遗传相关性（rhoG）和环境相关性（rhoE），将年龄、性别以及年龄与性别的交互作用作为协变量。还计算了表型相关性（rhoP）和双变量遗传力rhoG2。骨密度和BMI的遗传力分别约为0.70和约为0.50（p<0.0001）。家庭成员共享的共同环境（家庭效应）对BMI变异具有显著影响（p=0.0004）。观察到显著的遗传、环境和表型相关性。BMI/脊柱骨密度的rhoG2值为0.13，BMI/髋部骨密度的rhoG2值为0.18，脊柱骨密度/髋部骨密度的rhoG2值为0.58。虽然脊柱和髋部的骨密度具有显著的遗传决定因素，但BMI比骨密度更易受环境因素影响。此外，在中国汉族人群中，脊柱和髋部的骨密度比BMI和骨密度共享更多的遗传效应（多效性），尽管两者的效应均显著。
