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Genetic and environmental factors affecting bone mineral density in large families.

机译:影响大家庭骨矿物质密度的遗传和环境因素。

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摘要

This study assessed whether relatives with low bone mineral density (BMD) could be identified in five large families using historical, biochemical, and genetic markers for osteoporosis. Fifty of 65 relatives had their bone density and bone turnover markers measured, together with an assessment of their risk factors for osteoporosis. Only 33% (5/15) of siblings, 50% (6/12) of children and 43% (10/23) of nephews and nieces had entirely normal BMD. There was no difference in life-style risk factors for osteoporosis, history of previous fractures or body mass index between normal subjects and those with osteopenia or osteoporosis. Osteopenic individuals had a significantly higher than normal osteocalcin value. Within families, there was no clear association between BMD and any of the genetic markers (vitamin D receptor gene polymorphisms, COL 1A1 and COL 1A2 polymorphisms of the collagen gene), either alone or in combination. The addition of genetic markers to the other risk factors for low BMD did not improve the prediction of BMD. In conclusion, we suggest that the presence of osteoporosis in a first degree relative should be one of the clinical indications for bone density measurement as the individuals at risk would not be picked up by other methods.
机译:这项研究评估了是否可以使用骨质疏松症的历史,生化和遗传标记在五个大家族中鉴定出低骨密度的亲属。对65位亲戚中的50位进行了骨密度和骨转换指标的测量,并对骨质疏松症的危险因素进行了评估。仅有33%(5/15)的兄弟姐妹,50%(6/12)的儿童以及43%(10/23)的侄子和侄女的BMD完全正常。正常受试者与骨质减少或骨质疏松症患者之间的骨质疏松症生活方式危险因素,既往骨折史或体重指数无差异。骨质疏松症患者的骨钙素值明显高于正常值。在家庭内部,单独或组合使用时,BMD与任何遗传标记(维生素D受体基因多态性,胶原蛋白基因COL 1A1和COL 1A2多态性)之间均无明确关联。将遗传标志物添加到其他低BMD的危险因素中并不能改善BMD的预测。总之,我们建议在一级亲属中存在骨质疏松症应作为骨密度测量的临床指征之一,因为处于危险中的个体不会被其他方法吸收。

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