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美国国立衰老研究所/阿尔茨海默病协会关于载脂蛋白E基因分型在阿尔茨海默病中的应用建议。

The National Institute on Aging/Alzheimer's Association recommendations on the application of apolipoprotein E genotyping to Alzheimer's disease.

作者信息

Relkin N R, Kwon Y J, Tsai J, Gandy S

机构信息

Cornell University Medical College, New York, New York 10021, USA.

出版信息

Ann N Y Acad Sci. 1996 Dec 16;802:149-76. doi: 10.1111/j.1749-6632.1996.tb32608.x.

Abstract

In a conference held in Chicago during October 1995, a working group of the National Institute of Aging (NIA) and the Alzheimer's Association (AlzA) drafted consensus recommendations on research and clinical applications of APOE genetic susceptibility testing for Alzheimer's disease (AD). The NIA/AlzA Working Group concluded that in considering future applications of APOE genotyping and other knowledge that has been gained about the genetic basis of AD, the interests of AD patients and their family members must be held paramount. The group acknowledged that a robust association exists between possession of the APOE epsilon 4 allele and the risk of late-onset AD and cited evidence that this allele is more strongly associated with AD than any other form of dementia. They recommended against the use of APOE genotyping to predict the-future development of AD in asymptomatic individuals at this time, and warned against the use of the test in isolation as the sole means for diagnosing AD. The group endorsed the concept of discretionary use of APOE genotyping as an adjunct to other AD diagnostic procedures. However, routine clinical use of the test for this purpose was not recommended at this time. Physicians were advised to weigh any potential benefits of testing against the possibility that genotype disclosure could adversely affect the insurability, employability, and social standing of AD patients and their family members. Adequate provisions for pre-test and post-test counseling and psychosocial support were advised for all future clinical and research applications of APOE genotyping. The group called for the development of improved protocols for AD genetic counseling as well as supplemental measures to assure genetic privacy for AD patients and their family members.

摘要

1995年10月在芝加哥召开的一次会议上,美国国立衰老研究所(NIA)和阿尔茨海默病协会(AlzA)的一个工作组起草了关于载脂蛋白E(APOE)基因易感性检测在阿尔茨海默病(AD)研究及临床应用方面的共识建议。NIA/AlzA工作组得出结论,在考虑APOE基因分型的未来应用以及已获得的关于AD遗传基础的其他知识时,AD患者及其家庭成员的利益必须放在首位。该小组承认,携带APOEε4等位基因与晚发性AD风险之间存在密切关联,并引用证据表明该等位基因与AD的关联比与任何其他形式痴呆的关联都更强。他们建议目前不要使用APOE基因分型来预测无症状个体未来是否会患AD,并警告不要将该检测作为诊断AD的唯一手段单独使用。该小组认可酌情使用APOE基因分型作为其他AD诊断程序辅助手段的概念。然而,目前不建议将该检测用于此目的的常规临床应用。建议医生权衡检测的任何潜在益处与基因型披露可能对AD患者及其家庭成员的保险资格、就业能力和社会地位产生不利影响的可能性。对于APOE基因分型未来所有的临床和研究应用,建议提供充分的检测前和检测后咨询以及心理社会支持。该小组呼吁制定改进的AD遗传咨询方案以及补充措施,以确保AD患者及其家庭成员的基因隐私。

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