Piroska Marton, Tarnoki David Laszlo, Szabo Helga, Jokkel Zsofia, Meszaros Szilvia, Horvath Csaba, Tarnoki Adam Domonkos
Medical Imaging Centre, Faculty of Medicine, Semmelweis University, 1082 Budapest, Hungary.
Hungarian Twin Registry, 1082 Budapest, Hungary.
Medicina (Kaunas). 2021 Mar 8;57(3):248. doi: 10.3390/medicina57030248.
: Previous studies have demonstrated that risk of hip fracture is at least partly heritable. The aim of this study was to determine the magnitude of the genetic component of bone mineral density (BMD), using both X-ray and ultrasound assessment at multiple sites. 216 adult, healthy Hungarian twins (124 monozygotic, MZ, 92 dizygotic, DZ; mean age 54.2 ± 14.3 years), recruited from the Hungarian Twin Registry with no history of oncologic disease underwent cross-sectional BMD studies. We measured BMD, T- and Z-scores with dual energy X-ray absorptiometry (DEXA) at multiple sites (lumbar spine, femoral neck, total hip and radius). Quantitative bone ultrasound (QUS) was also performed, resulting in a calculated value of estimated bone mineral density (eBMD) in the heel bone. Heritability was calculated using the univariate ACE model. Bone density had a strong genetic component at all sites with estimates of heritability ranging from 0.613 to 0.838 in the total sample. Lumbar BMD and calcaneus eBMD had major genetic components with estimates of 0.828 and 0.838 respectively, and least heritable (0.653) at the total hip. BMD of the radius had also a strong genetic component with an estimate of 0.806. No common environmental effect was found. The remaining variance was influenced by unique environment (0.162 to 0.387). In females only, slightly higher additive genetic estimates were found, especially in the case of the femoral neck and total hip. Bone mineral density is strongly heritable, especially in females at all locations using both DEXA and QUS, which may explain the importance of family history as a risk factor for bone fractures. Unshared environmental effects account for the rest of the variance with slight differences in magnitude across various bone regions, supporting the role of lifestyle in preventing osteoporotic fractures with various efficacy in different bone regions.
以往的研究表明,髋部骨折风险至少部分具有遗传性。本研究的目的是通过在多个部位使用X射线和超声评估来确定骨密度(BMD)的遗传成分大小。从匈牙利双胞胎登记处招募了216名无肿瘤疾病史的成年健康匈牙利双胞胎(124对同卵双胞胎,MZ,92对异卵双胞胎,DZ;平均年龄54.2±14.3岁),进行横断面骨密度研究。我们使用双能X线吸收法(DEXA)在多个部位(腰椎、股骨颈、全髋和桡骨)测量了骨密度、T值和Z值。还进行了定量骨超声(QUS)检查,得出跟骨的估计骨密度(eBMD)计算值。使用单变量ACE模型计算遗传度。在所有部位,骨密度都有很强的遗传成分,总样本中的遗传度估计值在0.613至0.838之间。腰椎骨密度和跟骨eBMD有主要的遗传成分,估计值分别为0.828和0.838,全髋处的遗传度最低(0.653)。桡骨的骨密度也有很强的遗传成分,估计值为0.806。未发现共同环境效应。其余方差受独特环境影响(0.162至0.387)。仅在女性中,发现加性遗传估计值略高,尤其是在股骨颈和全髋的情况下。骨密度具有很强的遗传性,尤其是在女性中,使用DEXA和QUS在所有部位均如此,这可能解释了家族史作为骨折风险因素的重要性。非共享环境效应占其余方差,不同骨区域的大小略有差异,这支持了生活方式在预防骨质疏松性骨折中的作用,在不同骨区域具有不同的效果。