Lee Miryoung, Czerwinski Stefan A, Choh Audrey C, Towne Bradford, Demerath Ellen W, Chumlea Wm Cameron, Sun Shumei S, Siervogel Roger M
Lifespan Health Research Center, Wright State University School of Medicine, Dayton, OH 45420, USA.
Bone. 2004 Nov;35(5):1157-63. doi: 10.1016/j.bone.2004.07.007.
Quantitative ultrasound (QUS) measurements of bone have been reported to predict osteoporotic fracture risk in postmenopausal women and older men. Although many studies have examined the heritability of bone mineral density (BMD), few studies have estimated the heritability of calcaneal QUS phenotypes. In the present study, we examined the genetic regulation of calcaneal QUS parameters in individuals from nuclear and extended families. The study population includes 260 men and 295 women aged 18-91 years (mean+/-SD: 46+/-16 years) who belong to 111 pedigrees in the Fels Longitudinal Study. Three measures of calcaneal structure were collected from both the right and left heel using the Sahara bone sonometer. These measures included broadband ultrasound attenuation (BUA), speed of sound (SOS), and the quantitative ultrasound index (QUI). We used a variance components based maximum likelihood method to estimate the heritability of QUS parameters while simultaneously adjusting for covariate effects. Additionally, we used bivariate extensions of these methods to calculate additive genetic and random environmental correlations among QUS measures. All phenotypes demonstrated statistically significant heritabilities (P<0.0000001). Heritabilities in the right heel (h2+/-SE) were h2=0.59+/-0.10 for BUA, h2=0.73+/-0.09 for SOS, and h2=0.72+/-0.09 for QUI. Similarly, heritabilities for the left heel were h2=0.52+/-0.10, h2=0.75+/-0.10, and h2=0.70+/0.10, respectively. There was evidence for significant genetic and environmental correlations among these six QUS measures. Combinations of QUS measures in the right and left heel demonstrated genetic correlations of 0.94-0.99 and all were significantly different from one indicating at least a partially unique genetic architecture for each of these measures. This study demonstrates that QUS measures of the calcaneus among healthy men and women are heritable, and there are large shared additive genetic effects among all of the traits examined.
据报道,定量超声(QUS)测量骨密度可预测绝经后女性和老年男性的骨质疏松性骨折风险。尽管许多研究已经探讨了骨矿物质密度(BMD)的遗传性,但很少有研究估计跟骨QUS表型的遗传性。在本研究中,我们研究了核心家庭和扩展家庭中个体跟骨QUS参数的遗传调控。研究人群包括260名男性和295名女性,年龄在18 - 91岁之间(平均±标准差:46±16岁),他们来自费尔斯纵向研究中的111个家系。使用撒哈拉骨密度仪从左右脚跟收集了三项跟骨结构测量值。这些测量值包括宽带超声衰减(BUA)、声速(SOS)和定量超声指数(QUI)。我们使用基于方差成分的最大似然法来估计QUS参数的遗传性,同时调整协变量效应。此外,我们使用这些方法的双变量扩展来计算QUS测量值之间的加性遗传和随机环境相关性。所有表型均显示出具有统计学意义的遗传性(P<0.0000001)。右跟骨的遗传性(h2±标准误)为:BUA的h2 = 0.59±0.10,SOS的h2 = 0.73±0.09,QUI的h2 = 0.72±0.09。同样,左跟骨的遗传性分别为h2 = 0.52±0.10,h2 = 0.75±0.10,h2 = 0.70±0.10。有证据表明这六项QUS测量值之间存在显著的遗传和环境相关性。左右跟骨的QUS测量值组合显示出0.94 - 0.99的遗传相关性,且均与1显著不同,表明这些测量值各自至少具有部分独特的遗传结构。这项研究表明,健康男性和女性跟骨的QUS测量值具有遗传性,并且在所研究的所有性状之间存在大量共同的加性遗传效应。