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当代阿耳茨海默病研究

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ISSN (Print): 1567-2050
ISSN (Online): 1875-5828

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Research Article

载脂蛋白E基因重测:罕见变异对中国南方阿尔茨海默病易感性的贡献

卷 18, 期 1, 2021

发表于: 24 March, 2021

页: [67 - 79] 页: 13

弟呕挨: 10.2174/1567205018666210324111401

价格: $65

摘要

背景：APOE ε4是最知名的晚发性阿尔茨海默病(AD)的危险因素。人口研究表明，ε4在中国人群中发病率较低，可能存在其他中国特有的危险因素。除ε-等位基因外，有关载脂蛋白E全长遗传变异的研究较少。 目的：在本研究中，我们通过全面确定APOE的所有遗传变异，并研究它们与中国南方晚发性AD和轻度认知障碍(MCI)的潜在关联，填补了这一空白。 方法：研究招募了257名中国南方参与者，其中69名AD患者，83名MCI患者，105名正常对照组。从启动子到3''UTR区域的全长APOE测序。鉴定并比较了三组患者的遗传变异。 结果：APOE ε4在AD患者中更明显，但与中国其他地区及周边地区以及全球其他国家相比，中国南方AD患者的APOE ε4患病率最低。我们进一步鉴定了APOE中13个罕见的非单例变异。与MCI和正常受试者相比，携带任何一种罕见非单例变异的AD患者明显更多。这种差异仅在ε4等位基因非携带者中观察到。在已鉴定的罕见变异中，rs532314089、rs553874843、rs533904656和rs370594287的潜在功能影响被预测。 结论：我们的研究表明，中国南方AD的遗传风险构成存在种族差异。除APOE-ε4外，APOE罕见变异是AD风险分层生物标志物的潜在候选。

关键词: 阿尔茨海默病，轻度认知障碍，中国人，载脂蛋白E，罕见变异，遗传学

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