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首页> 外文期刊>Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research >Evidence for a major gene for bone mineral density in idiopathic osteoporotic families.
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Evidence for a major gene for bone mineral density in idiopathic osteoporotic families.

机译：特发性骨质疏松症家族中骨矿物质密度的主要基因的证据。

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摘要

Although there have been a number of studies indicating a heritable component for osteoporosis in middle to late adulthood, the etiology of osteoporosis in young people is uncertain. The present study aims to evaluate the extent to which genetic factors influence familial resemblance for bone mineral density (BMD) in families ascertained on the basis of young osteoporotic probands. The sample comprises eight families (74 total individuals) that were identified through a proband under the age of 35 years with a history of two or more fractures and a spinal bone density of at least 2.5 SDs below the mean for age and sex (Z score). Secondary causes of osteoporosis were excluded in the probands. In total, 27% (18/66) of the probands' relatives had osteoporosis and an additional 30% (20/66) had osteopenia. Classical segregation analysis was performed to evaluate the extent to which a genetic etiology could account for familial resemblance in these families. The results indicate a major gene of codominant inheritance for spinal BMD. Model-fitting comparisons revealed no support for environmental effects or for polygenic inheritance.
机译：尽管有许多研究表明，成年中晚期成年性骨质疏松的遗传成分，但年轻人骨质疏松的病因尚不确定。本研究旨在评估在年轻的骨质疏松先证者基础上确定的家庭中遗传因素影响家族骨密度（BMD）的相似性的程度。该样本包括八个家族（总共74个个体），这些家族是通过35岁以下的先证者确定的，具有两个或多个骨折的病史，并且脊柱骨密度比年龄和性别的平均值低至少2.5 SD（Z评分） ）。先证者排除了骨质疏松的继发原因。先证者的亲属中有27％（18/66）有骨质疏松症，另有30％（20/66）有骨质疏松症。进行了经典的偏析分析，以评估遗传病因可以解释这些家族中家族相似性的程度。结果表明，脊柱骨密度的主要遗传基因。模型拟合比较显示不支持环境影响或多基因遗传。

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