Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo 108-8639, Japan; email:
Annu Rev Genomics Hum Genet. 2013;14:245-56. doi: 10.1146/annurev-genom-091212-153427.
Degenerative skeletal disorders are common and serious problems worldwide, especially in aging populations. They are polygenic diseases influenced by both genetic and environmental factors, and hence the identification of susceptibility genes may provide clues to their etiology and pathogenesis, although this is still in its early stages. This review focuses on genetic studies of two representative degenerative skeletal disorders: osteoarthritis and degenerative disc disease. Genetic studies of these two diseases share common features and face similar problems, although their current statuses are very different. The two diseases have common susceptibility alleles--namely, the GDF5 rs143383 single-nucleotide polymorphism and the asporin D14 triplet repeat--which provides hints on how to investigate their genetic factors. The future success of genetic studies of these diseases will depend on accurate and reliable diagnostics, large-scale interpopulation association studies and replications, and consideration of environmental effects and related diseases with similar phenotypes.
退行性骨病是全世界普遍存在且严重的问题，尤其在老龄化人群中更为常见。它们是多基因疾病，受遗传和环境因素的影响，因此，易感基因的鉴定可能为其病因和发病机制提供线索，尽管这仍处于早期阶段。本综述重点介绍两种代表性退行性骨病：骨关节炎和退行性椎间盘疾病的遗传研究。尽管这两种疾病的现状差异很大，但它们的遗传研究具有共同的特征并面临相似的问题。这两种疾病有共同的易感等位基因，即 GDF5 rs143383 单核苷酸多态性和 asporin D14 三核苷酸重复，这为研究它们的遗传因素提供了线索。这些疾病的遗传研究的未来成功将取决于准确可靠的诊断、大规模的人群间关联研究和复制，以及对环境影响和具有相似表型的相关疾病的考虑。
Zotero 插件