Ho-Pham Lan T, Hans Didier, Doan Minh C, Mai Linh D, Nguyen Tuan V
Bone and Muscle Research Group, Ton Duc Thang University, Ho Chi Minh City, Vietnam.
Center of Bone Disease, Lausanne University Hospital, Lausanne, Switzerland.
Bone. 2016 Nov;92:79-84. doi: 10.1016/j.bone.2016.08.015. Epub 2016 Aug 20.
This study sought to estimate the extent of genetic influence on the variation in trabecular bone score (TBS). We found that genetic factors accounted for ~45% of variance in TBS, and that the co-variation between TBS and bone density is partially determined by genetic factors.
Trabecular bone score has emerged as an important predictor of fragility fracture, but factors underlying the individual differences in TBS have not been explored. In this study, we sought to determine the genetic contribution to the variation of TBS in the general population.
The study included 556 women and 189 men from 265 families. The individuals aged 53years (SD 11). We measured lumbar spine bone mineral density (BMD; Hologic Horizon) and then derived the TBS from the same Hologic scan where BMD was derived. A biometric model was applied to the data to partition the variance of TBS into two components: one due to additive genetic factors, and one due to environmental factors. The index of heritability was estimated as the ratio of genetic variance to total variance of a trait. Bivariate genetic analysis was conducted to estimate the genetic correlation between TBS and BMD measurements.
TBS was strongly correlated with lumbar spine BMD (r=0.73; P<0.001). On average TBS in men was higher than women, after adjusting age and height which are significantly associated with both TBS and lumbar spine BMD. The age and height adjusted index of heritability of TBS was 0.46 (95% CI, 0.39-0.54), which was not much different from that of LSBMD (0.44; 95% CI, 0.31-0.55). Moreover, the genetic correlation between TBS and LSBMD was 0.35 (95% CI, 0.21-0.46), between TBS and femoral neck BMD was 0.21 (95% CI, 0.10-0.33).
Approximately 45% of the variance in TBS is under genetic influence, and this effect magnitude is similar to that of lumbar spine BMD. This finding provides a scientific justification for the search for specific genetic variants that may be associated with TBS and fracture risk.
本研究旨在评估遗传因素对小梁骨评分（TBS）变异的影响程度。我们发现，遗传因素约占TBS变异的45%，且TBS与骨密度之间的协变部分由遗传因素决定。
小梁骨评分已成为脆性骨折的重要预测指标，但TBS个体差异的潜在因素尚未得到探索。在本研究中，我们试图确定普通人群中TBS变异的遗传贡献。
该研究纳入了来自265个家庭的556名女性和189名男性。这些个体的年龄为53岁（标准差11）。我们测量了腰椎骨密度（BMD；Hologic Horizon），然后从获取BMD的同一Hologic扫描中得出TBS。将生物统计学模型应用于数据，将TBS的变异分为两个部分：一部分归因于加性遗传因素，另一部分归因于环境因素。遗传率指数被估计为性状遗传方差与总方差的比率。进行双变量遗传分析以估计TBS与BMD测量值之间的遗传相关性。
TBS与腰椎BMD密切相关（r = 0.73；P < 0.001）。在调整了与TBS和腰椎BMD均显著相关的年龄和身高后，男性的TBS平均高于女性。TBS的年龄和身高调整后遗传率指数为0.46（95%可信区间，0.39 - 0.54），与腰椎BMD的遗传率指数（0.44；95%可信区间，0.31 - 0.55）相差不大。此外，TBS与腰椎BMD之间的遗传相关性为0.35（95%可信区间，0.21 - 0.46），TBS与股骨颈BMD之间的遗传相关性为0.21（95%可信区间，0.10 - 0.33）。
TBS约45%的变异受遗传影响，且这种影响程度与腰椎BMD相似。这一发现为寻找可能与TBS及骨折风险相关的特定基因变异提供了科学依据。
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