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成年双胞胎中的发作性睡病样症状。

Narcolepsy-like symptoms among adult twins.

作者信息

Kaprio J, Hublin C, Partinen M, Heikkilä K, Koskenvuo M

机构信息

Department of Public Health, University of Helsinki, Finland.

出版信息

J Sleep Res. 1996 Mar;5(1):55-60. doi: 10.1046/j.1365-2869.1996.d01-52.x.

Abstract

The genetic architecture of narcolepsy is poorly known. Genetic and environmental components of symptoms characteristic of narcolepsy, excessive sleepiness and cataplexy were assessed in a population-based sample of middle-aged like-sexed twin pairs. Questionnaire assessment of the 11-item Ullanlinna Narcolepsy Scale (UNS), a validated screening instrument for narcolepsy [J. Sleep Res. (1994) 3, 52-59] and two subscales (sleepiness and cataplexy-like symptoms) was obtained from both twins of 3785 pairs aged 33-60 y (541 male MZ pairs, 1089 male DZ pairs, 781 female MZ and 1374 female DZ pairs) from the population-based Finnish Twin Cohort. For the UNS scores, the intraclass correlation for male MZ pairs was 0.365 and for male DZ pairs 0.072, while for female pairs the MZ correlation was 0.375 and for DZ pairs 0.155. Structural equation model fitting indicated that a model with additive and non-additive genetic effects, and idiosyncratic environmental effects best accounted for the pattern of twin resemblance in both men and women. Genetic effects accounted for 35% (in men) and for 39% (in women) of total phenotypic variance in UNS. Analysis of the subscales suggested that there may be a greater genetic component to the sleepiness subscale, while environmental components play more of a role in the development of cataplexy-like symptoms. Further investigation of the complex genetic architecture of narcolepsy and its symptoms is warranted.

摘要

发作性睡病的遗传结构鲜为人知。在一个基于人群的中年同性双胞胎样本中,对发作性睡病的症状特征(过度嗜睡和猝倒)的遗传和环境成分进行了评估。从芬兰基于人群的双胞胎队列中的3785对年龄在33至60岁的双胞胎(541对男性同卵双胞胎、1089对男性异卵双胞胎、781对女性同卵双胞胎和1374对女性异卵双胞胎)的双方获取了对11项乌兰卡宁那发作性睡病量表(UNS)的问卷评估,该量表是一种经过验证的发作性睡病筛查工具[《睡眠研究杂志》(1994年)3卷,52 - 59页]以及两个子量表(嗜睡和类猝倒症状)。对于UNS得分,男性同卵双胞胎的组内相关性为0.365,男性异卵双胞胎为0.072,而女性双胞胎中,同卵双胞胎的相关性为0.375,异卵双胞胎为0.155。结构方程模型拟合表明,一个具有加性和非加性遗传效应以及独特环境效应的模型最能解释男性和女性双胞胎相似性的模式。遗传效应在UNS总表型方差中占35%(男性)和39%(女性)。对子量表的分析表明,嗜睡子量表可能有更大的遗传成分,而环境成分在类猝倒症状的发展中起更大作用。有必要对发作性睡病及其症状的复杂遗传结构进行进一步研究。

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