期刊
ALZHEIMERS & DEMENTIA
卷 12, 期 12, 页码 1297-1304出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jalz.2016.05.002
关键词
Dementia with Lewy bodies; Lewy body disease; Genetic association study; MAPT; tau protein
资金
- NINDS [R01 NS078086, R01 ES10751, P50 AG016574, U01 AG006786]
- FRSQ
- Mayo Clinic Alzheimer's Disease and Related Dementias Genetics program
- Little Family Foundation
- Mangurian Foundation for Lewy body research
Introduction: The MAPT H1 haplotype has been associated with several neurodegenerative diseases. We were interested in exploring the role of MAPT haplotypic variation in risk of dementia with Lewy bodies (DLB). Method: We genotyped six MAPT haplotype tagging SNPs and screened 431 clinical DLB cases, 347 pathologically defined high-likelihood DLB cases, and 1049 controls. Result: We performed haplotypic association tests and detected an association with the protective H2 haplotype in our combined series (odds ratio [OR] = 0.75). We fine-mapped the locus and identified a relatively rare haplotype, H1G, that is associated with an increased risk of DLB (OR = 3.30, P = .0017). This association was replicated in our pathologically defined series (OR = 2.26, P = .035). Discussion: These results support a role for H1 and specifically H1G in susceptibility to DLB. However, the exact functional variant at the locus is still unknown, and additional studies are warranted to fully explain genetic risk of DLB at the MAPT locus. (C) 2016 the Alzheimer's Association. Published by Elsevier Inc. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据