A genome-wide association study in multiple system atrophy

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Fältnamn	Indikatorer	Metadata
000		05789naa a2200817 4500
001		oai:lup.lub.lu.se:47e96b02-1a23-4f76-aa25-587d97c844b7
003		SwePub
008		161108s2016 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/47e96b02-1a23-4f76-aa25-587d97c844b72 URI
024	7	a https://doi.org/10.1212/WNL.00000000000032212 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Sailer, Annau Goethe University4 aut
245	1 0	a A genome-wide association study in multiple system atrophy
264	1	c 2016
300		a 8 s.
520		a Objective: To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS). Methods: We performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed. Results: We found no significant loci after stringent multiple testing correction. A number of regions emerged as potentially interesting for follow-up at p < 1 × 10-6, including SNPs in the genes FBXO47, ELOVL7, EDN1, and MAPT. Contrary to previous reports, we found no association of the genes SNCA and COQ2 with MSA. Conclusions: We present a GWAS in MSA. We have identified several potentially interesting gene loci, including the MAPT locus, whose significance will have to be evaluated in a larger sample set. Common genetic variation in SNCA and COQ2 does not seem to be associated with MSA. In the future, additional samples of well-characterized patients with MSA will need to be collected to perform a larger MSA GWAS, but this initial study forms the basis for these next steps.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
700	1	a Scholz, Sonja W.u Johns Hopkins Hospital4 aut
700	1	a Nalls, Michael A.u National Institute on Aging, United States4 aut
700	1	a Schulte, Claudiau German Center for Neurodegenerative Diseases (DZNE), Bonn4 aut
700	1	a Federoff, Monicau National Institute on Aging, United States4 aut
700	1	a Price, T. Ryanu National Institute on Aging, United States4 aut
700	1	a Lees, Andrewu University College London4 aut
700	1	a Ross, Owen A.u Mayo Clinic Florida4 aut
700	1	a Dickson, Dennis W.u Mayo Clinic Florida4 aut
700	1	a Mok, Kinu Hong Kong University of Science and Technology4 aut
700	1	a Mencacci, Niccolo E.u University College London4 aut
700	1	a Schottlaender, Luciau University College London4 aut
700	1	a Chelban, Vioricau University College London4 aut
700	1	a Ling, Helenu University College London4 aut
700	1	a O'Sullivan, Sean S.u University College London4 aut
700	1	a Wood, Nicholas W.u University College London4 aut
700	1	a Traynor, Bryan J.u National Institute on Aging, United States4 aut
700	1	a Ferrucci, Luigiu National Institute on Aging, United States4 aut
700	1	a Federoff, Howard J.u Georgetown University4 aut
700	1	a Mhyre, Timothy R.u Georgetown University4 aut
700	1	a Morris, Huw R.u University College London4 aut
700	1	a Deuschl, Güntheru University of Kiel4 aut
700	1	a Quinn, Niallu University College London4 aut
700	1	a Widner, Håkanu Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)mphy-hwi
700	1	a Albanese, Albertou Catholic University of the Sacred Heart, Rome4 aut
700	1	a Infante, Jonu University of Cantabria4 aut
700	1	a Bhatia, Kailash P.u University College London4 aut
700	1	a Poewe, Werneru Medical University of Innsbruck4 aut
700	1	a Oertel, Wolfgangu Philipp University of Marburg4 aut
700	1	a Höglinger, Günter U.u German Center for Neurodegenerative Diseases (DZNE), Bonn4 aut
700	1	a Wüllner, Ullrichu University Hospital Bonn4 aut
700	1	a Goldwurm, Stefanou Istituti Clinici Di Perfezionamento Hospital , Milan4 aut
700	1	a Pellecchia, Maria Teresau University of Salerno4 aut
700	1	a Ferreira, Joaquimu University of Lisbon4 aut
700	1	a Tolosa, Eduardou University of Barcelona4 aut
700	1	a Bloem, Bastiaan R.u Radboud University Nijmegen4 aut
700	1	a Rascol, Olivieru Radboud University Medical Center4 aut
700	1	a Meissner, Wassilios G.u University of Bordeaux4 aut
700	1	a Hardy, John A.u University College London4 aut
700	1	a Revesz, Tamasu University College London4 aut
700	1	a Holton, Janice L.u University College London4 aut
700	1	a Gasser, Thomasu German Center for Neurodegenerative Diseases (DZNE), Bonn4 aut
700	1	a Wenning, Gregor K.u Medical University of Innsbruck4 aut
700	1	a Singleton, Andrew B.u National Institute on Aging, United States4 aut
700	1	a Houlden, Henryu University College London4 aut
710	2	a Goethe Universityb Johns Hopkins Hospital4 org
773	0	t Neurologyg 87:15, s. 1591-1598q 87:15<1591-1598x 0028-3878
856	4	u http://dx.doi.org/10.1212/WNL.0000000000003221x freey FULLTEXT
856	4 8	u https://lup.lub.lu.se/record/47e96b02-1a23-4f76-aa25-587d97c844b7
856	4 8	u https://doi.org/10.1212/WNL.0000000000003221

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By the author/editor: Sailer, Anna; Scholz, Sonja W.; Nalls, Michael A ...; Schulte, Claudia; Federoff, Monica; Price, T. Ryan; show more...; Lees, Andrew; Ross, Owen A.; Dickson, Dennis ...; Mok, Kin; Mencacci, Niccol ...; Schottlaender, L ...; Chelban, Viorica; Ling, Helen; O'Sullivan, Sean ...; Wood, Nicholas W ...; Traynor, Bryan J ...; Ferrucci, Luigi; Federoff, Howard ...; Mhyre, Timothy R ...; Morris, Huw R.; Deuschl, Günther; Quinn, Niall; Widner, Håkan; Albanese, Albert ...; Infante, Jon; Bhatia, Kailash ...; Poewe, Werner; Oertel, Wolfgang; Höglinger, Günte ...; Wüllner, Ullrich; Goldwurm, Stefan ...; Pellecchia, Mari ...; Ferreira, Joaqui ...; Tolosa, Eduardo; Bloem, Bastiaan ...; Rascol, Olivier; Meissner, Wassil ...; Hardy, John A.; Revesz, Tamas; Holton, Janice L ...; Gasser, Thomas; Wenning, Gregor ...; Singleton, Andre ...; Houlden, Henry; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Neurology

Articles in the publication: Neurology

By the university: Lund University

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