Marder K, Tang M X, Mejia H, Alfaro B, Côté L, Louis E, Groves J, Mayeux R
Gertrude H. Sergievsky Center, College of Physicians and Surgeons, New York, New York, USA.
Neurology. 1996 Jul;47(1):155-60. doi: 10.1212/wnl.47.1.155.
To determine the relative risk (RR) and cumulative incidence of idiopathic Parkinson's disease (PD) in first-degree relatives of PD patients compared with relatives of controls from the same geographic region.
A family history questionnaire was used to obtain information on all first-degree relatives of cases and controls. A subset of these first-degree relative was also examined. A Cox proportional hazards model with double-censoring techniques for missing information was used to model the RR for PD, adjusting for gender, ethnicity, and relationship to proband.
A total of 1,458 first-degree relatives of 233 PD patients were 2.3 times as likely (95% CI = 1.3 to 4.0) as 7,834 relatives of 1,172 controls to develop PD. The cumulative incidence of PD to age 75 among first-degree relatives of PD patients was 2% compared with 1% among first-degree relatives of controls. The risk in male first-degree relatives was higher than in female relatives (RR = 2.0, 95% CI = 1.1 to 3.4) and the risk in relatives of Caucasians was higher than in African-Americans and Hispanics (RR = 2.4, 95% CI = 1.4 to 4.1). Risk for siblings and parents of probands was similar.
Susceptibility to PD is increased in first-degree relatives of both sporadic and familial cases. The pattern of inheritance and the relationship between genetic and environmental risk factors warrant further study.
确定与来自同一地理区域的对照者亲属相比，帕金森病（PD）患者的一级亲属患特发性帕金森病的相对风险（RR）和累积发病率。
使用家族史问卷获取病例组和对照组所有一级亲属的信息。还对这些一级亲属中的一部分进行了检查。采用带有双删失技术以处理缺失信息的Cox比例风险模型来模拟PD的RR，并对性别、种族以及与先证者的关系进行校正。
233例PD患者的1458名一级亲属患PD的可能性是1172名对照者的7834名亲属的2.3倍（95%置信区间 = 1.3至4.0）。PD患者一级亲属到75岁时的PD累积发病率为2%，而对照者一级亲属为1%。男性一级亲属的风险高于女性亲属（RR = 2.0，95%置信区间 = 1.1至3.4），高加索人亲属的风险高于非裔美国人和西班牙裔亲属（RR = 2.4，95%置信区间 = 1.4至4.1）。先证者的兄弟姐妹和父母的风险相似。
散发性和家族性病例的一级亲属对PD的易感性均增加。遗传模式以及遗传和环境风险因素之间的关系值得进一步研究。
