SNCA variants are associated with increased risk for multiple system atrophy.
SNCA variants are associated with increased risk for multiple system atrophy.
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DOI：
10.1002/ana.21685
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发表时间：
2009-05
影响因子：
11.2
通讯作者：
Gasser, Thomas
中科院分区：
文献类型：
--
作者：
Scholz, Sonja W.;Houlden, Henry;Schulte, Claudia;Sharma, Manu;Li, Abi;Berg, Daniela;Melchers, Anna;Paudel, Reema;Gibbs, J. Raphael;Simon-Sanchez, Javier;Paisan-Ruiz, Coro;Bras, Jose;Ding, Jinhui;Chen, Honglei;Traynor, Bryan J.;Arepalli, Sampath;Zonozi, Ryan R.;Revesz, Tamas;Holton, Janice;Wood, Nick;Lees, Andrew;Oertel, Wolfgang;Wuellner, Ullrich;Goldwurm, Stefano;Pellecchia, Maria Teresa;Illig, Thomas;Riess, Olaf;Fernandez, Hubert H.;Rodriguez, Ramon L.;Okun, Michael S.;Poewe, Werner;Wenning, Gregor K.;Hardy, John A.;Singleton, Andrew B.;Gasser, Thomas
为了测试突触核蛋白病帕金森病和多系统萎缩症（MSA）是否有共同的遗传病因，我们在413例MSA病例和3，974例对照受试者中对帕金森病全基因组关联研究中的384个最相关的SNP进行了候选单核苷酸多态性（SNP）关联研究。然后在另外108例MSA病例和537例对照中复制了10个最显著的SNP。SNCA位点的SNPs与发生MSA的风险增加显著相关（合并p = 5.5 × 1012;比值比6.2）。
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).
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影响因子：
56.9
作者：
Singleton, AB;Farrer, M;Gwinn-Hardy, K
通讯作者：
Gwinn-Hardy, K
影响因子：
--
作者：
Hara, Kenju;Momose, Yoshio;Tsuji, Shoji
通讯作者：
Tsuji, Shoji
影响因子：
4.1
作者：
Lincoln, Sarah J.;Ross, Owen A.;Farrer, Matthew J.
通讯作者：
Farrer, Matthew J.
影响因子：
5.8
作者：
Gilman, S;Low, P;Wenning, G
通讯作者：
Wenning, G
影响因子：
9.9
作者：
Morris, HR;Vaughan, JR;Wood, NW
通讯作者：
Wood, NW