SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy

被引：208

作者：

Scholz, Sonja W. ^{[1
,2
,3
]}

Houlden, Henry ^{[2
,3
]}

Schulte, Claudia ^{[4
]}

Sharma, Manu ^{[4
]}

Li, Abi ^{[2
,3
]}

Berg, Daniela ^{[4
]}

Melchers, Anna ^{[2
,3
]}

Paudel, Reema ^{[2
,3
]}

Gibbs, J. Raphael ^{[1
,2
,3
]}

Simon-Sanchez, Javier ^{[1
]}

Paisan-Ruiz, Coro ^{[2
,3
]}

Bras, Jose ^{[1
]}

Ding, Jinhui ^{[1
]}

Chen, Honglei ^{[5
]}

Traynor, Bryan J. ^{[1
]}

Arepalli, Sampath ^{[1
]}

Zonozi, Ryan R. ^{[1
]}

Revesz, Tamas ^{[2
,3
]}

Holton, Janice ^{[2
,3
]}

Wood, Nick ^{[2
,3
]}

Lees, Andrew ^{[2
,3
]}

Oertel, Wolfgang ^{[6
]}

Wuellner, Ullrich ^{[7
]}

Goldwurm, Stefano ^{[8
]}

Pellecchia, Maria Teresa ^{[9
]}

Illig, Thomas ^{[10
]}

Riess, Olaf ^{[11
]}

Fernandez, Hubert H. ^{[12
]}

Rodriguez, Ramon L. ^{[12
]}

Okun, Michael S. ^{[12
]}

Poewe, Werner ^{[13
]}

Wenning, Gregor K. ^{[13
]}

Hardy, John A. ^{[2
,3
]}

Singleton, Andrew B. ^{[1
]}

Gasser, Thomas ^{[4
]}

机构：

[1] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[2] UCL, Dept Mol Neurosci, London, England

[3] UCL, Inst Neurol, Reta Lila Weston Labs, London, England

[4] Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, Tubingen, Germany

[5] NIEHS, Epidemiol Branch, Res Triangle Pk, NC 27709 USA

[6] Univ Marburg, Ctr Nervous Dis, Marburg, Germany

[7] Univ Hosp, Bonn Med Ctr, Dept Neurol, Bonn, Germany

[8] Ist Clin Perfezionamento, Parkinson Inst, Milan, Italy

[9] Univ Naples Federico II, Dept Neurol Sci, Naples, Italy

[10] Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Epidemiol, Munich, Germany

[11] Univ Tubingen, Inst Human Genet, Dept Med Genet, Tubingen, Germany

[12] Univ Florida, Dept Neurol & Neurosurg, Gainesville, FL USA

[13] Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria

来源：

ANNALS OF NEUROLOGY | 2009年 / 65卷 / 05期

基金：

英国医学研究理事会;

关键词：

ALPHA-SYNUCLEIN GENE; DIAGNOSIS;

D O I：

10.1002/ana.21685

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

To test whether the synucleinopathies Parkinson's disease and multiple system atrophy (MSA) share a common genetic etiology, we performed a candidate single nucleotide polymorphism (SNP) association study of the 384 most associated SNPs in a genome-wide association study of Parkinson's disease in 413 MSA cases and 3,974 control subjects. The 10 most significant SNPs were then replicated in additional 108 MSA cases and 537 controls. SNPs at the SNCA locus were significantly associated with risk for increased risk for the development of MSA (combined p = 5.5 × 1012; odds ratio 6.2). © 2009 American Neurological Association.

引用

页码：610 / 614

页数：5

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