Sundquist Kristina, Li Xinjun, Hemminki Kari
Department of Family and Community Medicine, Karolinska Institute, Alfred Nobels allé 12, S-141 83, Huddinge, Sweden.
Neurogenetics. 2006 Nov;7(4):231-7. doi: 10.1007/s10048-006-0055-z. Epub 2006 Aug 30.
The aim of this study was to estimate familial risks of Parkinson's disease (PD) in first-degree relatives of probands with PD compared with first-degree relatives of control probands. Standardized incidence ratios (SIRs) of PD were estimated in the total Swedish population for the period January 1, 1987 to December 31, 2001. SIRs were calculated by age, sex, occupation, geographic region, family size, and type of related proband on the basis of first hospital diagnoses of PD during the study period. Results showed that during the study period, there were 65 cases of first-degree relatives who were hospitalized for PD out of the total 13,276 events (first hospital diagnoses of PD) between 1987 and 2001. Age-specific analyses of familial PD revealed that there was no apparent difference in SIRs by age category. Overall, significant SIRs for PD in first-degree relatives were 3.1 (95% CI 2.1-4.3) for men and 4.0 (95% CI 2.8-5.7) for women. When the related PD proband was a sibling, the SIR was significantly higher (8.7) than when the related proband was a parent (SIR=2.9, p=0.01) or a child (SIR=3.6, p=0.04). For spouses, no increased risks were found. In conclusion, the findings of the present study suggest that genetic factors are important in early- (age < or =50 years) and later (age >50 years) onset PD, and that shared environmental factors during childhood or recessive effects may partly be important for familial aggregation of the disease.
本研究的目的是评估帕金森病(PD)先证者的一级亲属相较于对照先证者的一级亲属患帕金森病的家族风险。在1987年1月1日至2001年12月31日期间,对瑞典总人口中帕金森病的标准化发病率(SIR)进行了估算。根据研究期间首次医院诊断的帕金森病情况,按年龄、性别、职业、地理区域、家庭规模以及相关先证者类型计算了标准化发病率。结果显示,在研究期间,1987年至2001年的13276例帕金森病首次医院诊断事件(即确诊病例)中,有65例一级亲属因帕金森病住院。对家族性帕金森病的年龄特异性分析表明,各年龄组的标准化发病率无明显差异。总体而言,一级亲属患帕金森病的显著标准化发病率男性为3.1(95%可信区间2.1 - 4.3),女性为4.0(95%可信区间2.8 - 5.7)。当相关的帕金森病先证者是兄弟姐妹时,标准化发病率(8.7)显著高于先证者是父母(标准化发病率 = 2.9,p = 0.01)或子女(标准化发病率 = 3.6,p = 0.04)的情况。对于配偶,未发现风险增加。总之,本研究结果表明,遗传因素在早发型(年龄≤50岁)和晚发型(年龄>50岁)帕金森病中都很重要,童年时期的共同环境因素或隐性效应可能在一定程度上对该病的家族聚集起重要作用。