• Jin-Tai Yu, Teng Jiang, Ying-Li Wang, Hui-Fu Wang, Wei Zhang, Nan Hu, Lin Tan, Lei Sun, Meng-Shan Tan, Xi-Chen Zhu, and Lan Tan.
• Department of Neurology, Qingdao Municipal Hospital, Nanjing Medical University, Qingdao, China; Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, China; Department of Neurology, Qingdao Municipal Hospital, College of Medicine and Pharmaceutics, Ocean University of China, Qingdao, China. Electronic address: yu-jintai@163.com.
• Neurobiol. Aging. 2014 Apr 1; 35 (4): 937.e1-3.

AbstractRecent studies have reported that a rare mutation of triggering receptor expressed on myeloid cells 2 gene (TREM2 [rs75932628-T]) has significantly increased the risk of late-onset Alzhemier's disease (LOAD) in European-descendent population. To date, no study has investigated the association between rare mutations of TREM2 and LOAD risk in non-European population. Here, we sequenced exon2 of TREM2 in the northern Han Chinese population consisting of 1133 patients with LOAD and 1159 control subjects. Although, 4 novel mutations (c.102G>A: Val34Val, c.330C>T: Cys110Cys, c.342T>C: His114His, and c.343G>A: Gly115Ser) were identified in patients with LOAD, none of them exhibited significant association with LOAD risk after Bonferroni correction. Most importantly, the previously reported rare variants in European-descendent population including rs75932628-T (predicted to cause an R47H substitution) were absent in our cohort. These findings suggest that mutations in exon2 of TREM2 were unlikely to play a key role in the susceptibility of LOAD in the northern Han Chinese population.Copyright © 2014 Elsevier Inc. All rights reserved.

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