Menzies Institute for Medical Research, University of Tasmania, Hobart 7000, Australia.
Centre for Research in Mathematics, School of Engineering, Mathematics and Computing, Western Sydney University, Sydney 2751, Australia.
Bone. 2018 May;110:76-83. doi: 10.1016/j.bone.2018.01.033. Epub 2018 Jan 31.
To estimate the heritability of bone geometry, volumetric bone mineral density (vBMD) and microarchitecture of trabecular (Tb) and cortical (Ct) bone measured by high resolution peripheral quantitative computerised tomography (HRpQCT) at the distal radius and tibia and to investigate the genetic correlations of these measures. Participants were 177 mother-offspring pairs from 162 families (mothers, mean age (SD) = 52.1 (4.7) years; offspring, 25.6 (0.73) years). Trabecular and cortical bone measures were obtained by HRpQCT. Multivariable linear regression was used to analyse the association of bone measures between mother and offspring. Sequential Oligogenic Linkage Analysis Routines (SOLAR) software was utilised to conduct quantitative genetic analyses. All maternal bone measures were independently associated with the corresponding bone measures in the offspring before and after adjustment for age, sex, weight and height. Heritability estimates ranged from 24% to 67% at the radius and from 42% to 74% at the tibia. The relationship for most bone geometry measures was significantly stronger in mother-son pairs (n = 107) compared with mother-daughter pairs (n = 70) (p < 0.05). In contrast, the heritability for most vBMD and microarchitecture measures were higher in mother-daughter pairs. Bivariate analyses found moderate to strong genetic correlations across all measures between radius and tibia (R = 0.49 to 0.93). Genetic factors have an important role in the development of bone geometry, vBMD and microarchitecture. These factors are strongly shared for the radius and tibia but vary by sex implying a role for imprinting.
为了评估骨几何形状、通过高分辨率外周定量计算机断层扫描(HRpQCT)在桡骨远端和胫骨测量的体积骨矿物质密度(vBMD)和小梁(Tb)和皮质(Ct)骨的微观结构的遗传性,并研究这些指标的遗传相关性。参与者是来自 162 个家庭的 177 对母子(母亲,平均年龄(SD)=52.1(4.7)岁;后代,25.6(0.73)岁)。通过 HRpQCT 获得小梁和皮质骨测量值。多变量线性回归用于分析母亲和后代之间骨测量值的关联。利用序贯连锁分析程序(SOLAR)软件进行定量遗传分析。在调整年龄、性别、体重和身高后,所有母亲的骨测量值都与后代相应的骨测量值独立相关。遗传率估计值在桡骨的范围为 24%至 67%,在胫骨的范围为 42%至 74%。在大多数骨骼几何形状测量中,母子对(n=107)的关系明显强于母女对(n=70)(p<0.05)。相比之下,大多数 vBMD 和微结构测量的遗传率在母女对中更高。双变量分析发现桡骨和胫骨之间所有测量值的遗传相关性从中等到强(R=0.49 至 0.93)。遗传因素在骨骼几何形状、vBMD 和微观结构的发育中起着重要作用。这些因素在桡骨和胫骨之间具有很强的共享性,但因性别而异,这表明印记的作用。