Kwoh C K, Venglish C, Lynn A H, Whitley D M, Young E, Chakravarti A
Department of Medicine, School of Medicine, University of Pittsburgh, PA, USA.
Am J Epidemiol. 1996 Jul 1;144(1):15-24. doi: 10.1093/oxfordjournals.aje.a008850.
The familial aggregation of rheumatoid arthritis was examined to determine factors modifying the risk of rheumatoid arthritis in first degree relatives of 165 cases ascertained from January 1, 1987, through March 31, 1987, using the Saint Margaret Memorial Hospital Rheumatoid Arthritis Registry, Pittsburgh, Pennsylvania, without regard to previous information concerning the occurrence of rheumatoid arthritis among their family members. The reported affection status of first degree relatives, verified through a structured clinical evaluation, revealed a false-positive reporting rate for family members of 61%. In contrast, there were no false-negative cases detected. There were no differences in average family size or total number of years at risk between 135 simplex and 30 multiplex families; however, aggregation analysis revealed that only 18 of 30 confirmed multiplex families had significant excess risk of rheumatoid arthritis. Significant differences were found when probands from multiplex families were compared with those from simplex families with regard to female to male ratio for probands (1:1 in multiplex families vs. 3:1 in simplex families) and average age of onset for probands (41 years in multiplex families vs. 48 years in simplex families). The familial risk for rheumatoid arthritis was similar in parents (4.2%) and siblings (4.6%) and lowest for children (0.7%) of probands. The authors assert that the affection status of first degree relatives of patients with rheumatoid arthritis is often falsely reported as positive. The familiality of rheumatoid arthritis may be more accurately related to the sex and age at onset of the affected family member.
对类风湿性关节炎的家族聚集性进行了研究，以确定影响类风湿性关节炎风险的因素。这些因素存在于1987年1月1日至1987年3月31日期间从宾夕法尼亚州匹兹堡市圣玛格丽特纪念医院类风湿性关节炎登记处确诊的165例患者的一级亲属中，且不考虑其家庭成员中先前有关类风湿性关节炎发病情况的信息。通过结构化临床评估核实的一级亲属报告的患病状况显示，家庭成员的假阳性报告率为61%。相比之下，未检测到假阴性病例。135个单发病例家庭和30个多发病例家庭在平均家庭规模或总风险年数方面没有差异；然而，聚集性分析显示，30个确诊的多发病例家庭中只有18个有类风湿性关节炎的显著超额风险。将多发病例家庭的先证者与单发病例家庭的先证者进行比较时，发现先证者的女性与男性比例（多发病例家庭为1:1，单发病例家庭为3:1）和先证者的平均发病年龄（多发病例家庭为41岁，单发病例家庭为48岁）存在显著差异。类风湿性关节炎的家族风险在先证者的父母（4.2%）和兄弟姐妹（4.6%）中相似，在先证者的子女中最低（0.7%）。作者断言，类风湿性关节炎患者一级亲属的患病状况经常被错误地报告为阳性。类风湿性关节炎的家族性可能更准确地与受影响家庭成员的性别和发病年龄相关。
