Triggering receptor expressed on myeloid cells 2 variant is rare in late-onset Alzheimer's disease in Han Chinese individuals

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• 作者：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 ; Lan Tan
• 关键词：Alzheimer's disease ; TREM2 ; Genetic ; Mutation ; Association
• 刊名：Neurobiology of Aging
• 出版年：April, 2014
• 年：2014
• 卷：35
• 期：4
• 页码：937.e1-937.e3
• 全文大小：155 K

文摘

Recent 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.