Deng H W, Chen W M, Recker S, Stegman M R, Li J L, Davies K M, Zhou Y, Deng H, Heaney R, Recker R R
Osteoporosis Research Center, Creighton University, Omaha, Nebraska, USA.
J Bone Miner Res. 2000 Jul;15(7):1243-52. doi: 10.1359/jbmr.2000.15.7.1243.
Osteoporotic fractures (OFs) are a major public health problem. Direct evidence of the importance and, particularly, the magnitude of genetic determination of OF per se is essentially nonexistent. Colles' fractures (CFs) are a common type of OF. In a metropolitan white female population in the midwestern United States, we found significant genetic determination of CF. The prevalence (K) of CF is, respectively, 11.8% (+/- SE 0.7%) in 2471 proband women aged 65.55 years (0.21), 4.4% (0.3%) in 3803 sisters of the probands, and 14.6% (0.7%) in their mothers. The recurrence risk (K0), the probability that a woman will suffer CF if her mother has suffered CF is 0.155 (0.017). The recurrence risk (Ks), the probability that a sister of a proband woman will suffer CF given that her proband sister has suffered CF is 0.084 (0.012). The relative risk lambda (the ratio of the recurrence risk to K), which measures the degree of genetic determination of complex diseases such as CF, is 1.312 (0.145; lambda 0) for a woman with an affected mother and 1.885 (0.276; lambda s) for a woman with an affected sister. A lambda-value significantly greater than 1.0 indicates genetic determination of CF. The terms lambda 0 and lambda s are related to the genetic variances of CF. These parameters translate into a significant and moderately high heritability (0.254 [0.118]) for CF. These parameters were estimated by a maximum likelihood method that we developed, which provides a general tool for characterizing genetic determination of complex diseases. In addition, we found that women without CF had significantly higher bone mass (adjusted for important covariates such as age, weight, etc.) than women with CF.
骨质疏松性骨折（OFs）是一个重大的公共卫生问题。关于OF本身重要性，尤其是基因决定程度的直接证据基本上不存在。科勒斯骨折（CFs）是OF的一种常见类型。在美国中西部的一个大都市白人女性人群中，我们发现CF存在显著的基因决定因素。CF的患病率（K）在2471名年龄为65.55岁（0.21）的先证者女性中为11.8%（±标准误0.7%），在先证者的3803名姐妹中为4.4%（0.3%），在她们的母亲中为14.6%（0.7%）。复发风险（K0），即如果一名女性的母亲患有CF，她患CF的概率为0.155（0.017）。复发风险（Ks），即在先证者女性的姐妹中，已知其先证者姐妹患有CF，她患CF的概率为0.084（0.012）。相对风险λ（复发风险与K的比值）衡量了诸如CF等复杂疾病的基因决定程度，对于有患病母亲的女性，λ为1.312（0.145；λ0），对于有患病姐妹的女性，λ为1.885（0.276；λs）。显著大于1.0的λ值表明CF存在基因决定因素。术语λ0和λs与CF的遗传方差有关。这些参数转化为CF显著且中等偏高的遗传度（0.254[0.118]）。这些参数是通过我们开发的最大似然法估计的，该方法为表征复杂疾病的基因决定因素提供了一个通用工具。此外，我们发现没有CF的女性（根据年龄、体重等重要协变量进行调整后）的骨量显著高于患有CF的女性。
