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双胞胎中的帕金森病:一项病因学研究。

Parkinson disease in twins: an etiologic study.

作者信息

Tanner C M, Ottman R, Goldman S M, Ellenberg J, Chan P, Mayeux R, Langston J W

机构信息

The Parkinson's Institute, Sunnyvale, Calif 94089, USA.

出版信息

JAMA. 1999 Jan 27;281(4):341-6. doi: 10.1001/jama.281.4.341.

Abstract

CONTEXT

The cause of Parkinson disease (PD) is unknown. Genetic linkages have been identified in families with PD, but whether most PD is inherited has not been determined.

OBJECTIVE

To assess genetic inheritance of PD by studying monozygotic (MZ) and dizygotic (DZ) twin pairs.

DESIGN

Twin study comparing concordance rates of PD in MZ and DZ twin pairs.

SETTING AND PARTICIPANTS

A total of 19842 white male twins enrolled in the National Academy of Sciences/National Research Council World War II Veteran Twins Registry were screened for PD and standard diagnostic criteria for PD were applied. Zygosity was determined by polymerase chain reaction or questionnaire.

MAIN OUTCOME MEASURE

Parkinson disease concordance in twin pairs, stratified by zygosity and age at diagnosis.

RESULTS

Of 268 twins with suspected parkinsonism and 250 presumed unaffected twin brothers, 193 twins with PD were identified (concordance-adjusted prevalence, 8.67/1000). In 71 MZ and 90 DZ pairs with complete diagnoses, pairwise concordance was similar (0.129 overall, 0.155 MZ, 0.111 DZ; relative risk, 1.39; 95% confidence interval, 0.63-3.1). In 16 pairs with diagnosis at or before age 50 years in at least 1 twin, MZ concordance was 1.0 (4 pairs), and DZ was 0.167 (relative risk, 6.0; 95% confidence interval, 1.69-21.26).

CONCLUSIONS

The similarity in concordance overall indicates that genetic factors do not play a major role in causing typical PD. No genetic component is evident when the disease begins after age 50 years. However, genetic factors appear to be important when disease begins at or before age 50 years.

摘要

背景

帕金森病(PD)的病因尚不清楚。在帕金森病患者家族中已发现基因连锁现象,但大多数帕金森病是否具有遗传性尚未确定。

目的

通过研究同卵双胞胎(MZ)和异卵双胞胎(DZ)对来评估帕金森病的遗传方式。

设计

对同卵双胞胎和异卵双胞胎中帕金森病的一致率进行比较的双胞胎研究。

研究地点和参与者

对19842名登记在美国国家科学院/国家研究委员会第二次世界大战退伍军人双胞胎登记处的白人男性双胞胎进行帕金森病筛查,并应用帕金森病的标准诊断标准。通过聚合酶链反应或问卷调查确定双胞胎的合子类型。

主要观察指标

按合子类型和诊断时年龄分层的双胞胎对中帕金森病的一致性。

结果

在268名疑似帕金森综合征的双胞胎和250名假定未受影响的双胞胎兄弟中,共识别出193名帕金森病患者(经一致性调整后的患病率为8.67/1000)。在71对同卵双胞胎和90对异卵双胞胎中,有完整的诊断结果,成对一致性相似(总体为0.129,同卵双胞胎为0.155,异卵双胞胎为0.111;相对风险为1.39;95%置信区间为0.63 - 3.1)。在至少有1名双胞胎在50岁及以前确诊的16对双胞胎中,同卵双胞胎的一致性为1.0(4对),异卵双胞胎为0.167(相对风险为6.0;95%置信区间为1.69 - 21.26)。

结论

总体一致性的相似性表明,遗传因素在典型帕金森病的发病中不起主要作用。当疾病在50岁以后开始时,没有明显的遗传成分。然而,当疾病在50岁及以前开始时,遗传因素似乎很重要。

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