Valdes Ana M, Spector Timothy D
Twin Research and Genetic Epidemiology Unit, St. Thomas Hospital Campus, Kings College, London School of Medicine, London SE1 7EH, UK.
Med Clin North Am. 2009 Jan;93(1):45-66, x. doi: 10.1016/j.mcna.2008.08.007.
Osteoarthritis (OA) is the most prevalent form of arthritis in the elderly. A large body of evidence, including familial aggregation and classic twin studies, indicates that primary OA has a strong hereditary component that is likely polygenic in nature. Traits related to OA, such as longitudinal changes in cartilage volume and progression of radiographic features, are also under genetic control. In recent years several linkage analyses and candidate gene studies have been performed and unveiled some of the specific genes involved in disease risk, such as FRZB and GDF5. This article discusses the impact that future genome-wide association scans can have on our understanding of the pathogenesis of OA and on identifying individuals at high risk for developing severe OA.
骨关节炎(OA)是老年人中最常见的关节炎形式。大量证据,包括家族聚集性和经典双胞胎研究,表明原发性OA具有很强的遗传成分,其本质可能是多基因的。与OA相关的特征,如软骨体积的纵向变化和影像学特征的进展,也受基因控制。近年来,已经进行了多项连锁分析和候选基因研究,并揭示了一些与疾病风险相关的特定基因,如FRZB和GDF5。本文讨论了未来全基因组关联扫描可能对我们理解OA发病机制以及识别发生严重OA高风险个体所产生的影响。