Variants associated with Gaucher disease in multiple system atrophy.
Variants associated with Gaucher disease in multiple system atrophy.
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DOI：
10.1002/acn3.185
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发表时间：
2015-04
影响因子：
5.3
通讯作者：
Tsuji, Shoji
中科院分区：
文献类型：
--
作者：
Mitsui, Jun;Matsukawa, Takashi;Sasaki, Hidenao;Yabe, Ichiro;Matsushima, Masaaki;Duerr, Alexandra;Brice, Alexis;Takashima, Hiroshi;Kikuchi, Akio;Aoki, Masashi;Ishiura, Hiroyuki;Yasuda, Tsutomu;Date, Hidetoshi;Ahsan, Budrul;Iwata, Atsushi;Goto, Jun;Ichikawa, Yaeko;Nakahara, Yasuo;Momose, Yoshio;Takahashi, Yuji;Hara, Kenju;Kakita, Akiyoshi;Yamada, Mitsunori;Takahashi, Hitoshi;Onodera, Osamu;Nishizawa, Masatoyo;Watanabe, Hirohisa;Ito, Mizuki;Sobue, Gen;Ishikawa, Kinya;Mizusawa, Hidehiro;Kanai, Kazuaki;Hattori, Takamichi;Kuwabara, Satoshi;Arai, Kimihito;Koyano, Shigeru;Kuroiwa, Yoshiyuki;Hasegawa, Kazuko;Yuasa, Tatsuhiko;Yasui, Kenichi;Nakashima, Kenji;Ito, Hijiri;Izumi, Yuishin;Kaji, Ryuji;Kato, Takeo;Kusunoki, Susumu;Osaki, Yasushi;Horiuchi, Masahiro;Kondo, Tomoyoshi;Murayama, Shigeo;Hattori, Nobutaka;Yamamoto, Mitsutoshi;Murata, Miho;Satake, Wataru;Toda, Tatsushi;Filla, Alessandro;Klockgether, Thomas;Wuellner, Ullrich;Nicholson, Garth;Gilman, Sid;Tanner, Caroline M.;Kukull, Walter A.;Stern, Mathew B.;Lee, Virginia M. -Y.;Trojanowski, John Q.;Masliah, Eliezer;Low, Phillip A.;Sandroni, Paola;Ozelius, Laurie J.;Foroud, Tatiana;Tsuji, Shoji
导致戈谢病的葡糖脑苷脂酶基因（GBA）变异与帕金森病（PD）和路易体痴呆（DLB）相关。为了研究GBA变异在多系统萎缩（MSA）中的作用，我们分析了一个大型病例对照系列中的GBA变异。我们对969名MSA患者（574名日本人，223名欧洲人和172名北美人）和1509名对照受试者（900名日本人，315名欧洲人和294名北美人）的GBA编码区和侧翼剪接位点进行了测序。我们只关注戈谢病引起的GBA变异。在日本的研究中，我们发现MSA患者中有9名携带者（1.65%），对照组中有8名携带者（0.89%）。在欧洲的研究中，我们发现MSA患者中有三名携带者（1.35%），对照组中有两名携带者（0.63%）。在北美系列中，我们发现MSA患者中有5名携带者（2.91%），对照组中有1名携带者（0.34%）。对每个系列进行Mantel-Haenszel分析，得出的合并比值比（OR）为2.44（95%置信区间[CI]，1.14-5.21），P值为0.029，无显著异质性证据。Logistic回归分析得出了类似的结果，调整后的OR为2.43（95%CI 1.15-5.37），P值为0.022。亚型分析显示，戈谢病引起的GBA变异与MSA小脑亚型（MSA-C）患者显著相关（P = 7.3 × 10−3）。研究结果表明，与PD和DLB一样，戈谢病引起的GBA变异与MSA相关。
Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple system atrophy (MSA), we analyzed GBA variants in a large case–control series. We sequenced coding regions and flanking splice sites of GBA in 969 MSA patients (574 Japanese, 223 European, and 172 North American) and 1509 control subjects (900 Japanese, 315 European, and 294 North American). We focused solely on Gaucher-disease-causing GBA variants. In the Japanese series, we found nine carriers among the MSA patients (1.65%) and eight carriers among the control subjects (0.89%). In the European series, we found three carriers among the MSA patients (1.35%) and two carriers among the control subjects (0.63%). In the North American series, we found five carriers among the MSA patients (2.91%) and one carrier among the control subjects (0.34%). Subjecting each series to a Mantel–Haenszel analysis yielded a pooled odds ratio (OR) of 2.44 (95% confidence interval [CI], 1.14–5.21) and a P-value of 0.029 without evidence of significant heterogeneity. Logistic regression analysis yielded similar results, with an adjusted OR of 2.43 (95% CI 1.15–5.37) and a P-value of 0.022. Subtype analysis showed that Gaucher-disease-causing GBA variants are significantly associated with MSA cerebellar subtype (MSA-C) patients (P = 7.3 × 10−3). The findings indicate that, as in PD and DLB, Gaucher-disease-causing GBA variants are associated with MSA.
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影响因子：
11.2
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
通讯作者：
Gasser, Thomas
影响因子：
4.2
作者：
MICHELAKAKIS, H;DIMITRIOU, E;AERTS, JMFG
通讯作者：
AERTS, JMFG
影响因子：
--
作者：
Mitsui, Jun;Mizuta, Ikuko;Tsuji, Shoji
通讯作者：
Tsuji, Shoji
影响因子：
16.6
作者：
Schoendorf, David C.;Aureli, Massimo;Deleidi, Michela
通讯作者：
Deleidi, Michela
DOI：
10.1097/00005072-199009000-00007
发表时间：
1990-09-01
影响因子：
3.2
作者：
NAKAZATO, Y;YAMAZAKI, H;YAMAGUCHI, H
通讯作者：
YAMAGUCHI, H