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    The role genetics plays in osteoporosis

    There are many ways in which osteoporosis can be characterised, these include a reduction in bone mass and internal changes in how the bone is made up. These in turn lead to a weakening in the strength of the bone, and lead to an increased risk of fractures. It is estimated that some 30% of all women, and as much as 12% of all men will be affected by osteopenia at some time in their life. If you look at postmenopausal women over the age of 50, it is estimated that as many as 40% of American women will be affected by osteoporosis in their life time.

    Osteoporosis generally occurs in older people; this is as a consequence in an increase in bone mineral density loss as people age. This occurs because the bone modeling cycle, that is responsible for the maintenance of a healthy skeleton becomes imbalanced, and removes more bone than it replaces.

    Although there are many factors that affect the likelihood of developing osteoporosis (eg. diet, exercise, medication) one of the key factors is a family history of the condition. This strongly suggests that there is a genetic role in the maintenance of bone density, and that the likelihood of developing the symptoms of osteoporosis.

    Genetics and Osteoporosis

    From scientific studies involving twins it has been estimated that genetic make up may account for between 50 and 85% of bone mass variance. Other factors that may indirectly affect the likelihood of people with low bone mineral density developing fractures are also genetical in nature; these include but are not limited to a persons bone turnover, muscle strength and body mass index. It is known that one of the main factors relating to bone mass reduction in women is down to deficiency of the hormone estrogen; the age of the onset of the menopause (when a reduction of estrogen takes place) is itself likely to be genetically determined. However, it is unclear as to whether the bone loss mechanisms themselves are genetically inheritable; with conflicting results from different investigations into the topic. It is also unclear whether the likelihood of developing fractures is gene based, though several studies have shown that family history of fractures to be a risk factor in its own right, regardless of whether the family member has osteopenia or not.

    kanis et al, 1994. The diagnosis of osteoporosis. J. Bone Miner. Res. 9: 1137-1141
    Kaprio et al, 1995. Common genetic influences on BMI and age at menarche. Hum. Biol. 67: 739-753
    Ralston and Crombrrugghe. Genetic Regulation of Bone Mass and Susceptibility to Osteoporosis. Genes and development. 20;2492-2506 (2006)