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加拿大多发性硬化症遗传易感性协作项目,第二阶段:基本原理与方法。加拿大协作研究小组。

Canadian collaborative project on genetic susceptibility to MS, phase 2: rationale and method. Canadian Collaborative Study Group.

作者信息

Sadovnick A D, Risch N J, Ebers G C

机构信息

Department of Medical Genetics, University of British Columbia, Vancouver.

出版信息

Can J Neurol Sci. 1998 Aug;25(3):216-21. doi: 10.1017/s0317167100034041.

Abstract

BACKGROUND

Results from the Canadian Collaborative Project on Genetic Susceptibility to Multiple Sclerosis (MS)-Phase 1 (CCPGSMS-Phase 1) together with other family data published since 1982 have led to the following conclusions about the etiology of MS: (i) genetic and non-genetic (environmental) factors are involved in the etiology of MS on a population basis; (ii) the familial aggregation of MS is genetic; (iii) maternal factors do not influence the risk for siblings to develop MS; and (iv) MS appears to be oligogenic. The present paper describes the rationale and methodology for the CCPGSMS-Phase 2.

METHOD

The CCPGSMS-Phase 2 is a nation-wide collaborative effort involving all the 15 Canadian MS clinics. A series of structured questionnaires is administered to MS index cases, spouse controls and mothers of index cases and spouse controls (if available) by trained interviewers. Blood samples are taken for molecular genetic studies. This national effort is coordinated by the MS Clinics in Vancouver and London.

RESULTS

The CCPGSMS-Phase 2 is in progress so specific results are not available. The study is designed to (i) increase the database for genetic epidemiological/molecular genetic research and (ii) gather population-based data to further our understanding of the non-genetic factors in the etiology of MS.

CONCLUSIONS

It is anticipated that the results from this study will impact on the eventual prevention, cure and treatment of MS.

摘要

背景

加拿大多发性硬化症(MS)遗传易感性协作项目第一阶段(CCPGSMS-Phase 1)的结果以及自1982年以来发表的其他家族数据,得出了关于MS病因的以下结论:(i)在人群层面上,遗传和非遗传(环境)因素均参与MS的病因;(ii)MS的家族聚集性是遗传性的;(iii)母亲因素不影响兄弟姐妹患MS的风险;(iv)MS似乎是寡基因的。本文描述了CCPGSMS-Phase 2的基本原理和方法。

方法

CCPGSMS-Phase 2是一项全国性的协作项目,涉及加拿大所有15家MS诊所。由经过培训的访谈员向MS索引病例、配偶对照以及索引病例和配偶对照的母亲(若有)发放一系列结构化问卷。采集血样用于分子遗传学研究。这项全国性工作由温哥华和伦敦的MS诊所协调。

结果

CCPGSMS-Phase 2正在进行中,因此尚无具体结果。该研究旨在(i)增加遗传流行病学/分子遗传学研究的数据库,以及(ii)收集基于人群的数据,以加深我们对MS病因中非遗传因素的理解。

结论

预计这项研究的结果将对MS的最终预防、治愈和治疗产生影响。

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