Genetic determination of Colles' fracture and differential bone mass in women with and without Colles' fracture

Hong Wen Deng, Wei Min Chen, Susan Recker, Mary Ruth Stegman, Jin Long Li, K. Michael Davies, Yan Zhou, Hongyi Deng, Robert Heaney, Robert R. Recker

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138 Scopus citations


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 (K8), 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 A (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; λ0) for a woman with an affected mother and 1.885 (0.276; λ(s)) for a woman with an affected sister. A λ-value significantly greater than 1.0 indicates genetic determination of CF. The terms λ0 and λ(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.

Original languageEnglish
Pages (from-to)1243-1252
Number of pages10
JournalJournal of Bone and Mineral Research
Issue number7
Publication statusPublished - 2000


All Science Journal Classification (ASJC) codes

  • Surgery

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