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双胞胎中的阿尔茨海默病。

Alzheimer's disease in twins.

作者信息

Räihä I, Kaprio J, Koskenvuo M, Rajala T, Sourander L

机构信息

Department of Geriatrics, University of Turku, Finland.

出版信息

Biomed Pharmacother. 1997;51(3):101-4. doi: 10.1016/s0753-3322(97)86906-5.

Abstract

Besides familial Alzheimer's disease (AD), the genetic susceptibility has also been found in sporadic cases of AD, mostly related to the apolipoprotein E polymorphism. The penetrance of AD is determined by age and probably by environmental exposure. Gene-environment interaction of a disease can be examined through studies of twins. The relative roles of genetic and environmental influences can be estimated by comparing the concordance rates between monozygotic (MZ) and dizygotic (DZ) twins. Genetic models can be used to specify contributions both from genetic as well as shared and unique environmental effects. The role of environmental factors can be investigated in the co-twin control study, either by comparing environmental exposure in MZ twins discordant for a disease or by comparing MZ twins discordant for an exposure suspected of causing a particular disease. The sampling of twin pairs AD can be carried out using voluntary recruitment, linkage of twin and hospital discharge registries or screening of twin registry population. Potential sources of biases in sampling are discussed. The majority of the published twin studies on AD are case reports or based on selected materials. In MZ pairs, the concordance rates for AD have varied between 31% and 83%. Only one co-twin control study in twins discordant for AD has been published. Published twin studies on AD are briefly reviewed.

摘要

除家族性阿尔茨海默病(AD)外,在散发性AD病例中也发现了遗传易感性,这主要与载脂蛋白E多态性有关。AD的外显率由年龄决定,可能还受环境暴露的影响。疾病的基因-环境相互作用可通过对双胞胎的研究来检验。通过比较同卵双胞胎(MZ)和异卵双胞胎(DZ)之间的一致性率,可以估计遗传和环境影响的相对作用。遗传模型可用于明确遗传因素以及共享和独特环境因素的贡献。环境因素的作用可在双胞胎对照研究中进行调查,方法是比较患某种疾病的MZ双胞胎之间的环境暴露情况,或者比较对怀疑导致特定疾病的暴露情况不一致的MZ双胞胎。双胞胎AD对的抽样可通过自愿招募、双胞胎与医院出院登记的关联或对双胞胎登记人群的筛查来进行。讨论了抽样中潜在的偏差来源。大多数已发表的关于AD的双胞胎研究都是病例报告或基于选定的材料。在MZ对中,AD的一致性率在31%至83%之间变化。关于AD的双胞胎不一致的情况,仅发表了一项双胞胎对照研究。本文对已发表的关于AD的双胞胎研究进行了简要综述。

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