Journal
NEUROBIOLOGY OF AGING
Volume 35, Issue 4, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2013.10.075
Keywords
Alzheimer's disease; TREM2; Genetic; Mutation; Association
Categories
Funding
- National Natural Science Foundation of China [81000544, 81171209, 81371406]
- Shandong Provincial Natural Science Foundation, China [ZR2010HQ004, ZR2011HZ001]
- Medicine and Health Science Technology Development Project of Shandong Province [2011WSA02018, 2011WSA02020]
- Shandong Provincial Outstanding Medical Academic Professional Program
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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. (C) 2014 Elsevier Inc. All rights reserved.
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