Genetic and environmental contributions to the association between quantitative ultrasound and bone mineral density measurements: A twin study
Genetic and environmental contributions to the association between quantitative ultrasound and bone mineral density measurements: A twin study
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DOI：
10.1359/jbmr.1998.13.8.1318
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发表时间：
1998-08-01
影响因子：
6.2
通讯作者：
Eisman, JA
中科院分区：
文献类型：
--
作者：
Howard, GM;Nguyen, TV;Eisman, JA
本研究旨在评估遗传和环境因素对定量超声（QUS）测量结果的变异和协变的相对贡献及其与骨密度（BMD）的关系。49个单合子（MZ）和ii？研究了20至83岁（53 ± 13岁，平均SD）的双卵（DZ）女性双胞胎。分别使用DBM Sonic 1200超声密度计和CUBA超声密度计测量数字（趾骨）QUS（声速[SOS]）和跟骨QUS（宽带超声衰减[BUA]和声速[VOS]）。采用双能X线骨密度仪测量股骨颈（FN）、腰椎（LS）和全身（TB）BMD。通过方差分析、单变量和多变量模型拟合遗传分析评估家族相似性和遗传力（归因于遗传因素的性状方差的比例）。在QUS和BMD参数方面，MZ双胞胎比DZ双胞胎更相似。年龄和体重调整后的BUA、VOS和SOS的遗传力估计值分别为0.74、0.55和0.82。LS、FN和TB BMD的相应遗传力指数分别为0.79、0.77和0.82。在横断面分析中，BUA和SOS，但不是VOS，与BMD测量独立相关。然而，基于对内差异的分析表明，只有BUA与BMD相关。双变量遗传相关分析表明，BUA与BMD的遗传相关在0.43 ~ 0.51之间（p < 0.001），环境相关在0.20 ~ 0.28之间（p < 0.01）。虽然QUS和BMD测量的遗传相关性显着，因子分析表明，共同的基因影响BMD在不同的网站。此外，个体QUS测量似乎受到一些常见基因组的影响，而不是环境因素的影响。仅发现BMD测量值存在显著的环境相关性，范围在0.50和0.65之间（p < 0.001）。这些数据表明，QUS和BMD测量是高度遗传的性状。虽然似乎有一组共同的基因影响QUS和BMD测量，但尚未确定的特定基因似乎比每个性状中的共享基因具有更大的影响。
This study was designed to assess the relative contributions of genetic and environmental factors to the variation and covariation of quantitative ultrasound (QUS) measurements and their relationships to bone mineral density (BMD). Forty-nine monozygotic (MZ) and ii? dizygotic (DZ) female twins between 20 and 83 years of age (53 +/- 13 years, mean a SD) were studied. Digital (phalangeal) QUS (speed of sound [SOS]) and calcaneal QUS (broadband ultrasound attenuation [BUA] and velocity of sound [VOS]) were measured using a DBM Sonic 1200 ultrasound densitometer and a CUBA ultrasound densitometer, respectively. Femoral neck (FN), lumbar spine (LS), and total body (TB) BMD were measured using dual-energy X-ray absorptiometry. Familial resemblance and hence heritability (proportion of variance of a trait attributable to genetic factors) were assessed by analysis of variance, univariate, and multivariate model-fitting genetic analyses. In both QUS and BMD parameters, MZ twins were more alike than DZ pairs. Estimates of heritability for age- and weight-adjusted BUA, VOS, and SOS were 0.74, 0.55, and 0.82, respectively. Corresponding indices of heritability for LS, FN, and TB BMD were 0.79, 0.77, and 0.82, respectively. In cross-sectional analysis, both BUA and SOS, but not VOS, were independently associated with BMD measurements. However, analysis based on intrapair differences suggested that only BUA was related to BMD. Bivariate genetic analysis indicated that the genetic correlations between BUA and BMD ranged between 0.43 and 0.51 (p < 0.001), whereas the environmental correlations ranged between 0.20 and 0.28 (p < 0.01). While the genetic correlations within QUS and BMD measurements were significant, factor analysis indicates that common genes affect BMD at different sites. Also, individual QUS measurements appear to be influenced by some common sets of genes rather than by environmental factors. Significant environmental correlations were only found for BMD measurements and ranged between 0.50 and 0.65 (p < 0.001). These data suggest that QUS and BMD measurements are highly heritable traits. While it appears that there is a common set of genes influencing both QUS and BMD measurements, specific genes yet to be identified appear to have greater effects than that of shared genes in each trait.