Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China
Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China
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DOI：
10.1016/j.neurobiolaging.2014.04.025
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发表时间：
2014-10-01
影响因子：
4.2
通讯作者：
Shen, Lu
中科院分区：
文献类型：
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作者：
Jiao, Bin;Liu, Xiaoyan;Shen, Lu
近年来，利用全外显子组测序方法在西方人群中发现了3种与阿尔茨海默病（AD）风险显著相关的罕见编码变异，包括TREM2中的p.R47H、PLD 3中的p.V232M和UNC5C中的p.T835M。为了研究这些变异是否是中国大陆AD患者的遗传危险因素，我们对包括360例AD患者和400例对照个体在内的中国汉族人群的TREM2外显子2、PLD 3外显子9和UNC5C外显子15进行了测序。因此，在所有受试者中均未鉴定出这3种变体，然而，在不相关的迟发性AD患者中检测到TREM2中的1种新变体（p.A130V）和UNC5C中的4种新变体（p.Q860H、p.T837K、p.S843G和p.V836V）。这些结果表明，3种罕见的编码变异可能在中国大陆的AD风险中不起重要作用。(C)2014 Elsevier Inc. All rights reserved.
Recently, 3 rare coding variants significantly associated with Alzheimer's disease (AD) risk have been identified in western populations using whole exome sequencing method, including p.R47H in TREM2, p.V232M in PLD3, and p.T835M in UNC5C. To examine whether these variants are genetic risk factors in patients with AD from mainland China, we sequenced exon 2 of TREM2, exon 9 of PLD3, and exon 15 of UNC5C in Chinese Han population including 360 patients with AD and 400 control individuals. As a result, none of these 3 variants were identified in all subjects, however, 1 novel variant (p.A130V) in TREM2 and 4 novel variants (p.Q860H, p.T837K, p.S843G, and p.V836V) in UNC5C were detected in unrelated patients with late-onset AD. These findings suggest the 3 rare coding variants might not play an important role in AD risk in mainland China. (C) 2014 Elsevier Inc. All rights reserved.