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成人骨量的遗传决定因素。一项双胞胎研究。

Genetic determinants of bone mass in adults. A twin study.

作者信息

Pocock N A, Eisman J A, Hopper J L, Yeates M G, Sambrook P N, Eberl S

出版信息

J Clin Invest. 1987 Sep;80(3):706-10. doi: 10.1172/JCI113125.

Abstract

The relative importance of genetic factors in determining bone mass in different parts of the skeleton is poorly understood. Lumbar spine and proximal femur bone mineral density and forearm bone mineral content were measured by photon absorptiometry in 38 monozygotic and 27 dizygotic twin pairs. Bone mineral density was significantly more highly correlated in monozygotic than in dizygotic twins for the spine and proximal femur and in the forearm of premenopausal twin pairs, which is consistent with significant genetic contributions to bone mass at all these sites. The lesser genetic contribution to proximal femur and distal forearm bone mass compared with the spine suggests that environmental factors are of greater importance in the aetiology of osteopenia of the hip and wrist. This is the first demonstration of a genetic contribution to bone mass of the spine and proximal femur in adults and confirms similar findings of the forearm. Furthermore, bivariate analysis suggested that a single gene or set of genes determines bone mass at all sites.

摘要

目前人们对遗传因素在决定骨骼不同部位骨量方面的相对重要性了解甚少。通过光子吸收法对38对同卵双胞胎和27对异卵双胞胎测量了腰椎、股骨近端的骨密度以及前臂的骨矿物质含量。在脊柱、股骨近端以及绝经前双胞胎的前臂中,同卵双胞胎的骨密度相关性显著高于异卵双胞胎,这表明在所有这些部位,遗传因素对骨量有显著贡献。与脊柱相比,遗传因素对股骨近端和前臂远端骨量的贡献较小,这表明环境因素在髋部和腕部骨质减少的病因中更为重要。这是首次证明遗传因素对成年人脊柱和股骨近端骨量有贡献,并证实了在前臂方面的类似发现。此外,双变量分析表明,单个基因或一组基因决定了所有部位的骨量。

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