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Variants associated with Gaucher disease in multiple system atrophy.


ABSTRACT: 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.

SUBMITTER: Mitsui J 

PROVIDER: S-EPMC4402086 | biostudies-other | 2015 Apr

REPOSITORIES: biostudies-other

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Variants associated with Gaucher disease in multiple system atrophy.

Mitsui Jun J   Matsukawa Takashi T   Sasaki Hidenao H   Yabe Ichiro I   Matsushima Masaaki M   Dürr Alexandra A   Brice Alexis A   Takashima Hiroshi H   Kikuchi Akio A   Aoki Masashi M   Ishiura Hiroyuki H   Yasuda Tsutomu T   Date Hidetoshi H   Ahsan Budrul B   Iwata Atsushi A   Goto Jun J   Ichikawa Yaeko Y   Nakahara Yasuo Y   Momose Yoshio Y   Takahashi Yuji Y   Hara Kenju K   Kakita Akiyoshi A   Yamada Mitsunori M   Takahashi Hitoshi H   Onodera Osamu O   Nishizawa Masatoyo M   Watanabe Hirohisa H   Ito Mizuki M   Sobue Gen G   Ishikawa Kinya K   Mizusawa Hidehiro H   Kanai Kazuaki K   Hattori Takamichi T   Kuwabara Satoshi S   Arai Kimihito K   Koyano Shigeru S   Kuroiwa Yoshiyuki Y   Hasegawa Kazuko K   Yuasa Tatsuhiko T   Yasui Kenichi K   Nakashima Kenji K   Ito Hijiri H   Izumi Yuishin Y   Kaji Ryuji R   Kato Takeo T   Kusunoki Susumu S   Osaki Yasushi Y   Horiuchi Masahiro M   Kondo Tomoyoshi T   Murayama Shigeo S   Hattori Nobutaka N   Yamamoto Mitsutoshi M   Murata Miho M   Satake Wataru W   Toda Tatsushi T   Filla Alessandro A   Klockgether Thomas T   Wüllner Ullrich U   Nicholson Garth G   Gilman Sid S   Tanner Caroline M CM   Kukull Walter A WA   Stern Mathew B MB   Lee Virginia M-Y VM   Trojanowski John Q JQ   Masliah Eliezer E   Low Phillip A PA   Sandroni Paola P   Ozelius Laurie J LJ   Foroud Tatiana T   Tsuji Shoji S  

Annals of clinical and translational neurology 20150228 4


<h4>Objective</h4>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.<h4>Methods</h4>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, a  ...[more]

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