Variants associated with Gaucher disease in multiple system atrophy

Autor: Shigeru Koyano, Masatoyo Nishizawa, Masashi Aoki, Ryuji Kaji, Paola Sandroni, Yasuo Nakahara, Eliezer Masliah, Yuishin Izumi, Sid Gilman, Akio Kikuchi, Masaaki Matsushima, Susumu Kusunoki, Hiroyuki Ishiura, Yaeko Ichikawa, Miho Murata, Mizuki Ito, Tatsuhiko Yuasa, Takeo Kato, Takamichi Hattori, Ullrich Wüllner, Mitsunori Yamada, Atsushi Iwata, Kenju Hara, Caroline M. Tanner, Alexis Brice, Laurie J. Ozelius, Yoshiyuki Kuroiwa, Kazuaki Kanai, Walter A. Kukull, Garth A. Nicholson, Alexandra Durr, Kinya Ishikawa, Tomoyoshi Kondo, Jun Mitsui, Hidenao Sasaki, Hidehiro Mizusawa, Akiyoshi Kakita, Kenji Nakashima, Phillip A. Low, Masahiro Horiuchi, Thomas Klockgether, Shoji Tsuji, Jun Goto, Satoshi Kuwabara, Ichiro Yabe, John Q. Trojanowski, Shigeo Murayama, Hidetoshi Date, Alessandro Filla, Mathew B. Stern, Hiroshi Takashima, Tsutomu Yasuda, Tatiana Foroud, Yuji Takahashi, Hitoshi Takahashi, Gen Sobue, Yasushi Osaki, Osamu Onodera, Nobutaka Hattori, Tatsushi Toda, Virginia M.-Y. Lee, Kazuko Hasegawa, Kimihito Arai, Takashi Matsukawa, Hirohisa Watanabe, Yoshio Momose, Mitsutoshi Yamamoto, Kenichi Yasui, Wataru Satake, Budrul Ahsan, Hijiri Ito
Přispěvatelé: Department of neurology, The University of Tokyo (UTokyo), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Department of neurology and geriatrics, Kagoshima University, Department of pathology, Niigata University, department of clinical research, Department of Neurology and Neurological Science, Tokyo Medical and Dental University-Graduate School of Medicine, Division of neurology, Chiba University, Department of clinical neurology and stroke medicine, Yokohama National University, Sagamihara National Hospital, Kamagaya Hospital, Department of clinical neuroscience, University of Tokushima, Tokushima University-Tokushima University, Departments of neurology, hematology, metabolism, endocrinology and diabetology, YAMAGATA UNIVERSITY, Yamagata University-Yamagata University, Department of geriatrics, cardiology and neurology, Kochi Medical school, St. Marianna University, Kawasaki, Department of neuropathology and the Brain bank for aging research, Tokyo Metropolitan Institute of Gerontology, National center hospital of neurology and psychiatry, Division of neurology/molecular brain science, Kobe University, Department of Neurological Sciences, Università degli studi di Napoli Federico II, Rheinische Friedrich-Wilhelms-Universität Bonn, Concord Hospital, Michigan State University [East Lansing], Michigan State University System-Michigan State University System, Parkinson's disease research education and clinical center, Department of epidemiology, University of Washington [Seattle], Parkinson's disease and movement disorders center, University of Pennsylvania [Philadelphia], Institute of aging, Udall Parkinson's research center, Department of neurosciences, University of California [San Diego] (UC San Diego), University of California-University of California, Departments of genetics and genomic sciences and neurology, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University System-Indiana University System, Administateur, HAL Sorbonne Université, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sagamihara National Hospital [Kanagawa, Japan], University of Naples Federico II = Università degli studi di Napoli Federico II, University of Pennsylvania, University of California (UC)-University of California (UC), Mitsui, Jun, Matsukawa, Takashi, Sasaki, Hidenao, Yabe, Ichiro, Matsushima, Masaaki, Dürr, Alexandra, Brice, Alexi, 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, Thoma, Wüllner, 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
Rok vydání: 2015
Předmět:
Zdroj: Annals of Clinical and Translational Neurology 2(4), 417-426 (2015). doi:10.1002/acn3.185
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2015, 2 (4), pp.417-426 ⟨10.1002/acn3.185⟩
Annals of Clinical and Translational Neurology, 2015, 2 (4), pp.417-426 ⟨10.1002/acn3.185⟩
ISSN: 2328-9503
DOI: 10.1002/acn3.185
Popis: International audience; Objective : 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.Methods : 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.Results : 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).Interpretation : The findings indicate that, as in PD and DLB, Gaucher-disease-causing GBA variants are associated with MSA.
Databáze: OpenAIRE
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