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本文引用的文献

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Association between genetic variants in SORL1 and autopsy-confirmed Alzheimer disease.SORL1基因变异与尸检确诊的阿尔茨海默病之间的关联。
Neurology. 2008 Mar 11;70(11):887-9. doi: 10.1212/01.wnl.0000280581.39755.89. Epub 2007 Oct 31.
2
PLINK: a tool set for whole-genome association and population-based linkage analyses.PLINK：一个用于全基因组关联分析和基于群体的连锁分析的工具集。
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GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.GAB2等位基因改变APOE ε4携带者患阿尔茨海默病的风险。
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4
The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort.在一个基于城市、多民族社区的队列中，SORL1基因变异与阿尔茨海默病之间的关联。
Arch Neurol. 2007 Apr;64(4):501-6. doi: 10.1001/archneur.64.4.501.
5
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.神经元sortilin相关受体SORL1与阿尔茨海默病存在基因关联。
Nat Genet. 2007 Feb;39(2):168-77. doi: 10.1038/ng1943. Epub 2007 Jan 14.
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Haploview: analysis and visualization of LD and haplotype maps.Haploview：连锁不平衡（LD）和单倍型图谱的分析与可视化
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一项全基因组研究中SORL1与阿尔茨海默病之间的关联。

Association between SORL1 and Alzheimer's disease in a genome-wide study.

作者信息

Meng Yan, Lee Joseph H, Cheng Rong, St George-Hyslop Peter, Mayeux Richard, Farrer Lindsay A

机构信息

Department of Medicine (Genetics Program), Boston University School of Medicine, Boston, Massachusetts 02118, USA.

出版信息

Neuroreport. 2007 Nov 19;18(17):1761-4. doi: 10.1097/WNR.0b013e3282f13e7a.

DOI:10.1097/WNR.0b013e3282f13e7a
PMID:18090307
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2631643/
Abstract

Several studies have reported an association of Alzheimer's disease (AD) with polymorphic markers in SORL1. Data from a recently published genome-wide association study in AD have been made publicly available. We tested the association of AD with SORL1 in this dataset (Translational Genomics Research Institute; TGEN), which included 31 SORL1 single nucleotide polymorphisms (SNPs), eight of which overlapped the original study. Six SNPs, near the 3' region of SORL1 containing SNPs which were strongly associated with AD in previous studies, showed significant association in the TGEN dataset. These results provide an independent replication of the association between AD and SORL1.

摘要

多项研究报告了阿尔茨海默病（AD）与SORL1基因多态性标记之间的关联。一项最近发表的AD全基因组关联研究数据已公开。我们在这个数据集（转化基因组学研究所；TGEN）中测试了AD与SORL1的关联，该数据集包含31个SORL1单核苷酸多态性（SNP），其中8个与原研究重叠。在SORL1 3'区域附近的6个SNP，这些SNP在之前的研究中与AD密切相关，在TGEN数据集中显示出显著关联。这些结果为AD与SORL1之间的关联提供了独立验证。