Kelly P J, Nguyen T, Hopper J, Pocock N, Sambrook P, Eisman J
Garvan Institute of Medical Research, St. Vincent's Hospital, Sydney, New South Wales, Australia.
J Bone Miner Res. 1993 Jan;8(1):11-7. doi: 10.1002/jbmr.5650080103.
Bone mineral density in adult life, which is an important determinant of fracture risk, is determined by peak adult bone density, achieved in early adulthood and subsequent rates of change during adult life. Cross-sectional twin and family studies indicate that the majority of population variation in bone density may be explained by genetic factors. Although there is evidence for a genetic effect on peak bone mass, it is unknown whether there is a genetic effect on rates of changes in bone density with age. Changes in lumbar spine and femoral neck bone density determined by dual-photon absorptiometry (Lunar DP3) were examined in a cohort of monozygotic (MZ, n = 21, 3 male and 18 female pairs, median age, range, 46; 24-75 years) and dizygotic twins (DZ, n = 19; 43, 25-65 years). The median follow-up was 3 years (range 1.1-5.5 years), with each subject having at least two and up to four bone density assessments. In these twins, genetic factors determine variation in rates of change (% change/year) in lumbar spine bone density, rMZ = 0.93 and rDZ = 0.51, p < 0.02 (one tailed), and Ward's triangle, rMZ = 0.60, rDZ = 0.11, p < 0.05 (one tailed). Model-fitting analysis was also consistent with a genetic effect on rates of change in bone density at the trochanteric site, although such an effect was not shown at the femoral neck. These data demonstrate, for the first time, the possible existence of genetic determinants of rates of change in bone mineral density in adults.
成年期骨矿物质密度是骨折风险的重要决定因素，它由成年早期达到的峰值骨密度以及成年期随后的变化率所决定。横断面双胞胎和家族研究表明，骨密度的大部分人群差异可能由遗传因素解释。虽然有证据表明遗传因素对峰值骨量有影响，但尚不清楚是否对骨密度随年龄变化的速率有遗传影响。我们对一组单卵双胞胎（MZ，n = 21，3对男性和18对女性，年龄中位数，范围，46岁；24 - 75岁）和双卵双胞胎（DZ，n = 19；43岁，25 - 65岁）进行了研究，通过双能光子吸收法（Lunar DP3）检测腰椎和股骨颈骨密度的变化。中位随访时间为3年（范围1.1 - 5.5年），每个受试者至少有两次且最多有四次骨密度评估。在这些双胞胎中，遗传因素决定了腰椎骨密度变化率（每年变化百分比）的差异，单卵双胞胎rMZ = 0.93，双卵双胞胎rDZ = 0.51，p < 0.02（单尾），以及沃德三角区，单卵双胞胎rMZ = 0.60，双卵双胞胎rDZ = 0.11，p < 0.05（单尾）。模型拟合分析也与遗传因素对转子部位骨密度变化率有影响一致，尽管在股骨颈部位未显示出这种影响。这些数据首次证明了成年人骨矿物质密度变化率可能存在遗传决定因素。
