Arden N K, Baker J, Hogg C, Baan K, Spector T D
Department of Rheumatology, St. Thomas' Hospital, London, United Kingdom.
J Bone Miner Res. 1996 Apr;11(4):530-4. doi: 10.1002/jbmr.5650110414.
Population based studies have demonstrated that having a first degree relative with a hip fracture is predictive of future hip fractures. Postmenopausal bone mineral density (BMD), ultrasound of calcaneus and hip axis length are associated with hip fracture, with the association for ultrasound and hip axis length being independent of BMD. The aim of this study was to determine the genetic component of these three important risk factors. We performed a classical twin study using 500 normal female twins, 128 identical and 122 non-identical pairs, aged 50 to 70 years. We measured bone mineral density at multiple sites, hip axis length (distance from the inner rim of the acetabulum to the greater trochanter), broadband ultrasound attenuation and velocity of sound of the calcaneus. Bone density had a strong genetic component at all sites with estimates of heritability ranging from 0.46 to 0.84. Hip axis length and velocity of sound had major genetic components with estimates of 0.62 and 0.61 respectively, which remained virtually unchanged after adjustment for bone mineral density. Broadband ultrasound attenuation had a moderate genetic component with an estimate of 0.53, which was reduced further to 0.45 after adjustment for BMD. In summary, all three bone measurements, which are independently associated with hip fracture, are independently heritable. This study suggests that a combination of different genetic factors acting on the structure, dimensions and density of bone may explain the importance of family history as a risk factor for hip fracture.
基于人群的研究表明,有一级亲属发生髋部骨折可预测未来发生髋部骨折的风险。绝经后骨密度(BMD)、跟骨超声及髋轴长度与髋部骨折相关,其中超声及髋轴长度与骨密度无关。本研究旨在确定这三个重要危险因素的遗传成分。我们对500名年龄在50至70岁的正常女性双胞胎进行了经典的双生子研究,其中同卵双胞胎128对,异卵双胞胎122对。我们测量了多个部位的骨密度、髋轴长度(从髋臼内缘到大转子的距离)、跟骨宽带超声衰减和声速。所有部位的骨密度均有很强的遗传成分,遗传度估计值在0.46至0.84之间。髋轴长度和声速有主要的遗传成分,估计值分别为0.62和0.61,在调整骨密度后基本保持不变。宽带超声衰减有中等程度的遗传成分,估计值为0.53,在调整骨密度后进一步降至0.45。总之,所有这三项与髋部骨折独立相关的骨测量指标均具有独立遗传性。本研究提示,作用于骨骼结构、尺寸和密度的不同遗传因素的组合可能解释了家族史作为髋部骨折危险因素的重要性。