Department of Family Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Osteoporos Int. 2012 Apr;23(4):1343-9. doi: 10.1007/s00198-011-1685-z. Epub 2011 Jun 9.
Bone mineral density (BMD), a representative marker of osteoporosis risk, is found to be highly heritable in this Korean study, which is very consistent with the findings in Western populations. This finding strongly supports that genetic factors are significant determinants of osteoporosis risk along with individual biological and behavioral factors.
Although genetic factors are known to contribute significantly to variations in BMD in Western populations, such an association has not been fully evaluated in an Asian population. This study was conducted to determine the role of genetic factors on BMD in Korean population.
The study participants were 2,728 men and women consisting of 497 monozygotic (MZ) twin pairs, 119 dizygotic (DZ) twin pairs, and 1,496 first-degree relatives from the Healthy Twin Study. BMD was measured using dual-energy X-ray absorptiometry. Quantitative genetic analysis based on a variance decomposition model was performed.
Age and the measured covariates accounted for 17~61% of the variation in BMD, depending on the sites of measurement. After accounting for the covariate effects, the heritability of BMD at the whole body, thoracic and lumbar spine, whole ribs, whole pelvis, whole arms, and whole legs were 0.76, 0.72, 0.73, 0.71, 0.51, and 0.75, respectively. The pair-wise correlation of BMD was the highest within MZ twin pairs, followed by DZ twin pairs, sibling pairs, and parents-child pairs. Cross-trait correlation analysis revealed a positive genetic correlation between BMDs at different sites, ranging from 0.80 (arm and leg BMD) to 0.50 (pelvis and arm BMD).
The high heritability of BMD in this Korean population similar to those found in Western populations and the significant common genetic basis between BMDs at different sites strongly supports a significant role of genetic determinants on the risk of osteoporosis.
本研究发现,骨密度(BMD)作为骨质疏松风险的代表性标志物,在韩国人群中具有高度遗传性,这与西方人群的研究结果非常一致。这一发现有力地支持了遗传因素是骨质疏松风险的重要决定因素,与个体的生物和行为因素共同起作用。
尽管遗传因素对西方人群的 BMD 差异有重要贡献,但这种关联在亚洲人群中尚未得到充分评估。本研究旨在确定遗传因素在韩国人群中对 BMD 的作用。
研究对象为 2728 名男女,包括 497 对同卵(MZ)双胞胎、119 对异卵(DZ)双胞胎和 1496 对一级亲属,来自健康双胞胎研究。使用双能 X 射线吸收法测量 BMD。基于方差分解模型进行定量遗传分析。
年龄和所测量的协变量占 BMD 变异的 17%~61%,具体取决于测量部位。在考虑协变量影响后,全身、胸腰椎、全肋骨、全骨盆、全臂和全腿的 BMD 遗传度分别为 0.76、0.72、0.73、0.71、0.51 和 0.75。MZ 双胞胎之间的 BMD 相关性最高,其次是 DZ 双胞胎、兄弟姐妹和父母-子女。跨性状相关分析显示,不同部位 BMD 之间存在正遗传相关,范围从 0.80(臂和腿 BMD)到 0.50(骨盆和臂 BMD)。
本研究中韩国人群的 BMD 具有高度遗传性,与西方人群的研究结果相似,不同部位 BMD 之间存在显著的共同遗传基础,这有力地支持了遗传决定因素在骨质疏松风险中的重要作用。