Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China |
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| Authors: | Bin Jiao Xiaoyan Liu Beisha Tang Lihua Hou Lin Zhou Fufeng Zhang Yafang Zhou Jifeng Guo Xinxiang Yan Lu Shen |
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| Institution: | 1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, China;2. State Key Laboratory of Medical Genetics, Changsha, China;3. Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China |
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| Abstract: | 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. |
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| Keywords: | Alzheimer's disease Risk factor TREM2 PLD3 UNC5C |
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