Lenchik L, Hsu F-C, Register T C, Lohman K K, Freedman B I, Langefeld C D, Bowden D W, Carr J J
Department of Radiology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Calcif Tissue Int. 2004 Oct;75(4):305-12. doi: 10.1007/s00223-004-0249-z. Epub 2004 Jul 30.
The heritability of trabecular volumetric bone mineral density (BMD) determined by quantitative computed tomography (QCT) has not yet been reported. The purpose of this study was to investigate the heritability of BMD as determined by QCT and DXA in 124 women and 120 men (age 39-83 years, BMI 17-75, 84% type 2 diabetics) from 101 families (232 sibling pairs) in the Diabetes Heart Study. Volumetric BMD had a heritability (h2) estimate of 0.73 (SE = 0.15, P < 0.0001) at the lumbar spine and 0.71 (SE = 0.15, P < 0.0001) at the thoracic spine. Areal BMD heritability estimates were 0.56 for PA spine, 0.43 for total hip, 0.43 for femoral neck, 0.45 for distal radius, 0.42 for mid-radius, and 0.52 for whole body (all P < 0.01). After accounting for familial correlation using generalized estimating equations, volumetric BMD was inversely associated with age (r = -0.52, P < 0.0001) and duration of diabetes (r = -0.24, P < 0.01) and positively associated with body weight (r = 0.25, P < 0.01). In multivariate analysis, adjustment for age, sex, and race lowered the h2 estimates for volumetric BMD at the lumbar (h2 = 0.41, P < 0.01) and thoracic (h2 = 0.48, P < 0.001) spine, increased the h2 estimate for areal BMD at the mid radius (h2 = 0.58, P < 0.0001), and had little effect on the h2 estimate for areal BMD at other sites (h2 = 0.41-0.55, all P < 0.01). Additional adjustment for BMI, duration of diabetes, and physical activity had little effect on the h2 estimates for volumetric BMD or areal BMD except at the hip where they were lowered (h2 = 0.31-0.33, all P < 0.05). These data suggest that, like areal BMD, volumetric BMD is highly heritable and may be used in designing linkage studies to locate genes governing bone metabolism.
通过定量计算机断层扫描(QCT)测定的小梁骨体积骨密度(BMD)的遗传力尚未见报道。本研究的目的是在糖尿病心脏研究中,对来自101个家庭(232对同胞)的124名女性和120名男性(年龄39 - 83岁,BMI 17 - 75,84%为2型糖尿病患者),研究通过QCT和双能X线吸收法(DXA)测定的BMD的遗传力。腰椎的骨体积BMD遗传力(h2)估计值为0.73(标准误=0.15,P<0.0001),胸椎为0.71(标准误=0.15,P<0.0001)。面骨密度遗传力估计值在PA脊柱为0.56,全髋为0.43,股骨颈为0.43,桡骨远端为0.45,桡骨中段为0.42,全身为0.52(所有P<0.01)。使用广义估计方程考虑家族相关性后,骨体积BMD与年龄呈负相关(r = -0.52,P<0.0001)和糖尿病病程呈负相关(r = -0.24,P<0.01),与体重呈正相关(r = 0.25,P<0.01)。在多变量分析中,对年龄、性别和种族进行调整后,腰椎(h2 = 0.41,P<0.01)和胸椎(h2 = 0.48,P<0.001)的骨体积BMD的h2估计值降低,桡骨中段的面骨密度h2估计值增加(h2 = 0.58,P<0.0001),对其他部位的面骨密度h2估计值影响较小(h2 = 0.41 - 0.55,所有P<0.01)。对BMI、糖尿病病程和体力活动进行额外调整后,除髋部外,对骨体积BMD或面骨密度的h2估计值影响较小,髋部的h2估计值降低(h2 = 0.31 - 0.33,所有P<0.05)。这些数据表明,与面骨密度一样,骨体积BMD具有高度遗传性,可用于设计连锁研究以定位控制骨代谢的基因。