Sökning: onr:"swepub:oai:lup.lub.lu.se:47e96b02-1a23-4f76-aa25-587d97c844b7" > A genome-wide assoc...
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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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