Clinical Epidemiology Unit, Department of Medicine Solna, Karolinska Institutet, T2 Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
Institute of Environmental Medicine, Karolinska Institutet, BOX 210, SE-171 77 Stockholm, Sweden.
Nat Rev Rheumatol. 2016 Jun;12(6):335-43. doi: 10.1038/nrrheum.2016.52. Epub 2016 Apr 21.
Family history of rheumatoid arthritis (RA) is a proxy for an individual's genetic and, in part, environmental risk of developing RA, and is a well-recognized predictor of disease onset. Although family history of RA is an old concept, the degree of familial aggregation of RA, whether it differs by age, sex, or serology, and what value it has for clinical decisions once a diagnosis of RA has been made remain unclear. New data have been emerging in parallel to substantial progress made in genetic association studies. In this Review, we describe the various ways that familial aggregation has been measured, and how the findings from these studies, whether they are based on twins, cohorts of first-degree relatives, or genetic data, correspond to each other and aid understanding of the aetiology of RA. In addition, we review the potential usefulness of family history of RA from a clinical point of view, demonstrating that, in the era of big data and genomics, family history still has a role in directing clinical decision-making and research.
类风湿关节炎（RA）家族史是个体发生 RA 的遗传和部分环境风险的替代指标，是疾病发病的公认预测因子。尽管 RA 的家族史是一个古老的概念，但 RA 的家族聚集程度、它是否因年龄、性别或血清学而异，以及一旦做出 RA 诊断，它对临床决策有何价值仍然不清楚。新数据的出现与遗传关联研究的重大进展平行。在这篇综述中，我们描述了衡量家族聚集的各种方法，以及这些研究的结果（无论是基于双胞胎、一级亲属队列还是遗传数据）如何相互对应，并有助于理解 RA 的发病机制。此外，我们从临床角度回顾了 RA 家族史的潜在用途，表明在大数据和基因组学时代，家族史在指导临床决策和研究方面仍然发挥着作用。
