期刊
NEUROBIOLOGY OF AGING
卷 34, 期 5, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2012.10.004
关键词
Alzheimer's disease; Progressive supranuclear palsy; Polymorphisms; MOBP; MAPT; EIF2AK3
资金
- National Natural Science Foundation of China [81000544, 81171209]
- 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
Both Alzheimer's disease (AD) and progressive supranuclear palsy (PSP) are a class of neurodegenerative diseases associated with the pathologic aggregation of tau protein in the human brain. They share some clinical and pathologic characteristics. A recent genome-wide association study reported several single-nucleotide polymorphisms at the STX6, MOBP, MAPT, and EIF2AK3 in association with PSP. To explore whether these single-nucleotide polymorphisms are associated with AD risk, we conducted a case-control study to investigate the PSP-associated loci in 1592 Han Chinese subjects. Rs242557 at the MAPT locus was associated with late-onset AD (LOAD) (odds ratio [OR], 1.175; p = 0.026), which appeared to be stronger for LOAD patients with apolipoprotein E (APOE) epsilon 4 allele (OR, 1.510), and this positive association was not changed after adjusting for age, sex, and the APOE epsilon 4-carrier status (additive model: OR, 1.163; p = 0.036; dominant model: OR, 1.315; p = 0.010). Rs1768208 in MOBP and rs7571971 in EIF2AK3 showed association only in the APOE epsilon 4 positive subjects, and these did not appear to be independent of APOE. As for rs1411478 in STX6, we did not explore any association with LOAD. Our exploratory analysis mainly suggests an association of MAPT with LOAD, especially in APOE epsilon 4 carriers. Genotypes at MOBP and EIF2AK3 confer risk predominantly in APOE epsilon 4-positive subjects, with indications of an interaction between APOE and MOBP or EIF2AK3 on AD risk. (C) 2013 Elsevier Inc. All rights reserved.
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