Cortical bone health shows significant linkage to chromosomes 2p, 3p, and 17q in 10-year-old children
Cortical bone health shows significant linkage to chromosomes 2p, 3p, and 17q in 10-year-old children
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DOI：
10.1016/j.bone.2011.08.024
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发表时间：
2011-12-01
期刊：
影响因子：
4.1
通讯作者：
Towne, Bradford
中科院分区：
文献类型：
--
作者：
Duren, Dana L.;Blangero, John;Towne, Bradford
基因在终身骨骼健康中发挥着重要作用。影响儿童时期骨骼构建的基因不仅可能影响整个儿童时期的骨骼健康，而且可能影响成年期的骨骼健康。鉴于峰值骨量是成人骨折风险的一个重要预测因素，揭示正常儿科骨骼的遗传基础是必要的。在Fels纵向研究的144个家庭的600名10岁儿童的样本中，我们检查了第二掌骨的放射学皮质骨测量。形态测量包括骨宽度、内侧和外侧皮质厚度以及计算的皮质指数（代表皮质相对于骨宽度的量）。然后，我们使用SOLAR分析平台对440个基因型个体的这些性状进行了全基因组连锁分析。在3条染色体上对骨骼性状进行了QTL定位。内侧皮质厚度的QTL定位于染色体2p25.2。外侧皮质厚度的OIL定位于染色体区域3p26.1-3p25.3。最后，检测到的皮质指数的QTL定位到17q21.2染色体区域。每个区域都包含儿童骨骼健康的可能候选基因，其中一些证实了成人骨骼研究的结果，而另一些则代表了骨骼健康的新候选基因。(C)2011 Elsevier Inc. All rights reserved.
Genes play an important role in lifelong skeletal health. Genes that influence bone building during childhood have the potential to affect bone health not only throughout childhood but also into adulthood. Given that peak bone mass is a significant predictor of adult fracture risk, it is imperative that the genetic underpinnings of the normal pediatric skeleton are uncovered. In a sample of 600 10-year-old children from 144 families in the Fels Longitudinal Study, we examined radiographic cortical bone measures of the second metacarpal. Morphometic measurements included bone width, medial and lateral cortical thicknesses, and the calculated cortical index representing the amount of cortex relative to bone width. We then conducted genome-wide linkage analysis on these traits in 440 genotyped individuals using the SOLAR analytic platform. Significant quantitative trait loci (QTL) were identified for bone traits on three separate chromosomes. A QTL for medial cortical thickness was localized to chromosome 2p25.2. A OIL for lateral cortical thickness was localized to chromosomal region 3p26.1-3p25.3. Finally, a QTL detected for cortical index was localized to the 17q21.2 chromosomal region. Each region contains plausible candidate genes for pediatric skeletal health, some of which confirm findings from studies of adulthood bone, and for others represent novel candidate genes for skeletal health. (C) 2011 Elsevier Inc. All rights reserved.