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2
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本文引用的文献

1
Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.对Lrrk2基因R1628P位点作为帕金森病风险因素的分析。
Ann Neurol. 2008 Jul;64(1):88-92. doi: 10.1002/ana.21405.
2
Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia.亮氨酸丰富重复激酶2基因（Lrrk2）G2385R突变是亚洲帕金森病的一个祖传风险因素。
Parkinsonism Relat Disord. 2007 Mar;13(2):89-92. doi: 10.1016/j.parkreldis.2006.12.001. Epub 2007 Jan 10.
3
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.阿尔茨海默病遗传关联研究的系统荟萃分析：AlzGene数据库
Nat Genet. 2007 Jan;39(1):17-23. doi: 10.1038/ng1934.
4
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study.帕金森病相关的13个单核苷酸多态性缺乏重复性：一项大规模国际研究。
Lancet Neurol. 2006 Nov;5(11):917-23. doi: 10.1016/S1474-4422(06)70579-8.
5
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.帕金森病与神经功能正常对照的全基因组基因分型：第一阶段分析及数据公开发布
Lancet Neurol. 2006 Nov;5(11):911-6. doi: 10.1016/S1474-4422(06)70578-6.
6
A case-control association study of the 12 single-nucleotide polymorphisms implicated in Parkinson disease by a recent genome scan.一项针对近期全基因组扫描中涉及帕金森病的12个单核苷酸多态性的病例对照关联研究。
Am J Hum Genet. 2006 Jun;78(6):1090-2; author reply 1092-4. doi: 10.1086/504725.
7
No evidence for association with Parkinson disease for 13 single-nucleotide polymorphisms identified by whole-genome association screening.全基因组关联筛查所鉴定的13个单核苷酸多态性与帕金森病无关联证据。
Am J Hum Genet. 2006 Jun;78(6):1088-90; author reply 1092-4. doi: 10.1086/504726.
8
Genomewide association, Parkinson disease, and PARK10.全基因组关联研究、帕金森病与 PARK10
Am J Hum Genet. 2006 Jun;78(6):1084-8; author reply 1092-4. doi: 10.1086/504728.
9
Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease.关于信号素基因（SEMA5A）与帕金森病风险的研究结果相互矛盾。
Am J Hum Genet. 2006 Jun;78(6):1082-4; author reply 1092-4. doi: 10.1086/504727.
10
Considerations for genomewide association studies in Parkinson disease.帕金森病全基因组关联研究的考量因素
Am J Hum Genet. 2006 Jun;78(6):1081-2. doi: 10.1086/504730.

Phactr2与帕金森病

Phactr2 and Parkinson's disease.

作者信息

Wider Christian, Lincoln Sarah J, Heckman Michael G, Diehl Nancy N, Stone Jeremy T, Haugarvoll Kristoffer, Aasly Jan O, Gibson J Mark, Lynch Timothy, Rajput Alex, Rajput Michele L, Uitti Ryan J, Wszolek Zbigniew K, Farrer Matthew J, Ross Owen A

机构信息

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

出版信息

Neurosci Lett. 2009 Mar 27;453(1):9-11. doi: 10.1016/j.neulet.2009.02.009. Epub 2009 Feb 10.

DOI:10.1016/j.neulet.2009.02.009
PMID:19429005
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2684848/
Abstract

Attempts at replicating the first genome-wide association study (GWAS) in Parkinson's disease (PD) have not successfully identified genetic risk factors. The present study reevaluates data from the first GWAS and focuses on the SNP (rs11155313, located in the Phactr2 gene) with the lowest P-value in the Tier 2 patient-control series. We employed four case-control series to examine the nominated SNP rs11155313 and identified association in US (OR: 1.39, P=0.032), Canadian (OR: 1.41, P=0.014) and Irish (OR: 1.44, P=0.034) patient-control series, but not in the Norwegian series (OR: 1.15, P=0.27). When combining all four series the observed trend was statistically significant (OR: 1.30, P<0.001). This study shows that reappraisal of publicly available results of GWAS may help nominate new risk factors for PD.

摘要

在帕金森病（PD）中复制首个全基因组关联研究（GWAS）的尝试尚未成功识别出遗传风险因素。本研究重新评估了首个GWAS的数据，并聚焦于二级病例对照系列中P值最低的单核苷酸多态性（SNP，rs11155313，位于Phactr2基因）。我们采用了四个病例对照系列来检测指定的SNP rs11155313，并在美国（比值比：1.39，P = 0.032）、加拿大（比值比：1.41，P = 0.014）和爱尔兰（比值比：1.44，P = 0.034）的病例对照系列中发现了关联，但在挪威系列中未发现关联（比值比：1.15，P = 0.27）。当合并所有四个系列时，观察到的趋势具有统计学意义（比值比：1.30，P < 0.001）。本研究表明，对GWAS公开可用结果的重新评估可能有助于确定PD的新风险因素。