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本文引用的文献

1
Susceptibility of brain atrophy to in Alzheimer's disease, evidence from functional prioritization in imaging genetics.脑萎缩对阿尔茨海默病的易感性，影像学遗传学中功能优先化的证据。
Proc Natl Acad Sci U S A. 2018 Mar 20;115(12):3162-3167. doi: 10.1073/pnas.1706100115. Epub 2018 Mar 6.
2
Alzheimer's Disease rs11767557 Variant Regulates EPHA1 Gene Expression Specifically in Human Whole Blood.阿尔茨海默病 rs11767557 变异体特异性调节人全血中 EPHA1 基因的表达。
J Alzheimers Dis. 2018;61(3):1077-1088. doi: 10.3233/JAD-170468.
3
An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome.一个全基因组转录本定量性状位点（xQTL）图谱整合了人类大脑转录组和表观基因组的遗传结构。
Nat Neurosci. 2017 Oct;20(10):1418-1426. doi: 10.1038/nn.4632. Epub 2017 Sep 4.
4
Genetic variant rs763361 regulates multiple sclerosis CD226 gene expression.基因变体rs763361调控多发性硬化症CD226基因的表达。
Proc Natl Acad Sci U S A. 2017 Feb 7;114(6):E906-E907. doi: 10.1073/pnas.1618520114. Epub 2017 Jan 30.
5
Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions.遗传变异与多发性硬化风险基因 SLC9A9 在不同人脑区域的表达。
Mol Neurobiol. 2017 Nov;54(9):6820-6826. doi: 10.1007/s12035-016-0208-5. Epub 2016 Oct 20.
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Cis-eQTLs regulate reduced LST1 gene and NCR3 gene expression and contribute to increased autoimmune disease risk.顺式表达数量性状基因座（cis-eQTLs）调控LST1基因和NCR3基因表达降低，并导致自身免疫性疾病风险增加。
Proc Natl Acad Sci U S A. 2016 Oct 18;113(42):E6321-E6322. doi: 10.1073/pnas.1614369113. Epub 2016 Oct 11.
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Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression.α-突触核蛋白远端增强子中与帕金森病相关的风险变异体调节靶基因表达。
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Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.人类基因组学。基因型-组织表达（GTEx）试点分析：人类多组织基因调控
Science. 2015 May 8;348(6235):648-60. doi: 10.1126/science.1262110. Epub 2015 May 7.
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Genetic variability in the regulation of gene expression in ten regions of the human brain.人类大脑十个区域中基因表达调控的遗传变异性。
Nat Neurosci. 2014 Oct;17(10):1418-1428. doi: 10.1038/nn.3801. Epub 2014 Aug 31.
10
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.脑表达全基因组关联研究（eGWAS）鉴定与人类疾病相关的变异。
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Disease status affects the association between rs4813620 and the expression of Alzheimer's disease susceptibility gene .

作者信息

Liu Guiyou, Jin Shuilin, Hu Yang, Jiang Qinghua

机构信息

Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.

School of Life Science and Technology, Harbin Institute of Technology, Harbin 150001, China.

出版信息

Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):E10519-E10520. doi: 10.1073/pnas.1812975115. Epub 2018 Oct 24.

DOI:10.1073/pnas.1812975115
PMID:30355771
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6233097/
Abstract
摘要