Impact of the environment on the skeleton: is it modulated by genetic factors?
Impact of the environment on the skeleton: is it modulated by genetic factors?
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DOI：
10.1007/s11914-013-0151-6
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发表时间：
2013-09
影响因子：
4.3
通讯作者：
Karasik, David
中科院分区：
文献类型：
--
作者：
Ackert-Bicknell, Cheryl L.;Karasik, David
关键词：
骨骼疾病的病因是由遗传和环境因素驱动的。骨质疏松症表型的全基因组关联研究（GWAS）已经确定了新的候选基因，但只发现了一小部分性状变异。这种“缺失的遗传性”是由几个因素造成的，包括没有考虑基因与环境（G*E）的相互作用。一些G*E相互作用已经被研究过，但是需要新的方法将环境数据整合到基因组研究中。基因分型和荟萃分析技术的进步现在可以将来自多个研究的基因型数据结合起来，但是在大型人类队列中对关键环境因素的测量仍然落后，在全基因组关联荟萃研究中纳入这些测量所需的统计工具也是如此。本文重点讨论了加强人类G*E相互作用研究的方法，以及如何利用啮齿动物模型为遗传研究提供信息。了解G*E相互作用将为个体化治疗提供有效的针对性干预策略。
The etiology of skeletal disease is driven by genetic and environmental factors. Genome-wide association studies (GWAS) of osteoporotic phenotypes have identified novel candidate genes, but have only uncovered a small proportion of the trait variance explained. This “missing heritability” is caused by several factors, including the failure to consider gene-by-environmental (G*E) interactions. Some G*E interactions have been investigated, but new approaches to integrate environmental data into genomic studies are needed. Advances in genotyping and meta-analysis techniques now allow combining genotype data from multiple studies, but the measurement of key environmental factors in large human cohorts still lags behind, as do the statistical tools needed to incorporate these measures in genome-wide association meta-studies. This review focuses on discussing ways to enhance G*E interaction studies in humans and how the use of rodent models can inform genetic studies. Understanding G*E interactions will provide opportunities to effectively target intervention strategies for individualized therapy.
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