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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 12798naa a2203229 4500 | |
| 001 | oai:DiVA.org:uu-158162 | |
| 003 | SwePub | |
| 008 | 110901s2011 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:123052117 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1581622 URI |
| 024 | 7 | a https://doi.org/10.1038/nature102512 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1230521172 URI |
| 040 | a (SwePub)uud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Sawcer, Stephen4 aut |
| 245 | 1 0 | a Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis |
| 264 | c 2011-08-10 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2011 |
| 338 | a print2 rdacarrier | |
| 520 | a Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis. | |
| 653 | a MEDICINE | |
| 653 | a MEDICIN | |
| 700 | 1 | a Hellenthal, Garrett4 aut |
| 700 | 1 | a Pirinen, Matti4 aut |
| 700 | 1 | a Spencer, Chris C. A.4 aut |
| 700 | 1 | a Patsopoulos, Nikolaos A.4 aut |
| 700 | 1 | a Moutsianas, Loukas4 aut |
| 700 | 1 | a Dilthey, Alexander4 aut |
| 700 | 1 | a Su, Zhan4 aut |
| 700 | 1 | a Freeman, Colin4 aut |
| 700 | 1 | a Hunt, Sarah E.4 aut |
| 700 | 1 | a Edkins, Sarah4 aut |
| 700 | 1 | a Gray, Emma4 aut |
| 700 | 1 | a Booth, David R.4 aut |
| 700 | 1 | a Potter, Simon C.4 aut |
| 700 | 1 | a Goris, An4 aut |
| 700 | 1 | a Band, Gavin4 aut |
| 700 | 1 | a Oturai, Annette Bang4 aut |
| 700 | 1 | a Strange, Amy4 aut |
| 700 | 1 | a Saarela, Janna4 aut |
| 700 | 1 | a Bellenguez, Celine4 aut |
| 700 | 1 | a Fontaine, Bertrand4 aut |
| 700 | 1 | a Gillman, Matthew4 aut |
| 700 | 1 | a Hemmer, Bernhard4 aut |
| 700 | 1 | a Gwilliam, Rhian4 aut |
| 700 | 1 | a Zipp, Frauke4 aut |
| 700 | 1 | a Jayakumar, Alagurevathi4 aut |
| 700 | 1 | a Martin, Roland4 aut |
| 700 | 1 | a Leslie, Stephen4 aut |
| 700 | 1 | a Hawkins, Stanley4 aut |
| 700 | 1 | a Giannoulatou, Eleni4 aut |
| 700 | 1 | a D'alfonso, Sandra4 aut |
| 700 | 1 | a Blackburn, Hannah4 aut |
| 700 | 1 | a Boneschi, Filippo Martinelli4 aut |
| 700 | 1 | a Liddle, Jennifer4 aut |
| 700 | 1 | a Harbo, Hanne F.4 aut |
| 700 | 1 | a Perez, Marc L.u Karolinska Institutet4 aut |
| 700 | 1 | a Spurkland, Anne4 aut |
| 700 | 1 | a Waller, Matthew J.u Karolinska Institutet4 aut |
| 700 | 1 | a Mycko, Marcin P.4 aut |
| 700 | 1 | a Ricketts, Michelle4 aut |
| 700 | 1 | a Comabella, Manuel4 aut |
| 700 | 1 | a Hammond, Naomi4 aut |
| 700 | 1 | a Kockum, Ingridu Karolinska Institutet4 aut |
| 700 | 1 | a McCann, Owen T.4 aut |
| 700 | 1 | a Ban, Maria4 aut |
| 700 | 1 | a Whittaker, Pamela4 aut |
| 700 | 1 | a Kemppinen, Anu4 aut |
| 700 | 1 | a Weston, Paul4 aut |
| 700 | 1 | a Hawkins, Clive4 aut |
| 700 | 1 | a Widaa, Sara4 aut |
| 700 | 1 | a Zajicek, John4 aut |
| 700 | 1 | a Dronov, Serge4 aut |
| 700 | 1 | a Robertson, Neil4 aut |
| 700 | 1 | a Bumpstead, Suzannah J.4 aut |
| 700 | 1 | a Barcellos, Lisa F.4 aut |
| 700 | 1 | a Ravindrarajah, Rathi4 aut |
| 700 | 1 | a Abraham, Roby4 aut |
| 700 | 1 | a Alfredsson, Larsu Karolinska Institutet4 aut |
| 700 | 1 | a Ardlie, Kristin4 aut |
| 700 | 1 | a Aubin, Cristin4 aut |
| 700 | 1 | a Baker, Amie4 aut |
| 700 | 1 | a Baker, Katharine4 aut |
| 700 | 1 | a Baranzini, Sergio E.4 aut |
| 700 | 1 | a Bergamaschi, Laura4 aut |
| 700 | 1 | a Bergamaschi, Roberto4 aut |
| 700 | 1 | a Bernstein, Allan4 aut |
| 700 | 1 | a Berthele, Achim4 aut |
| 700 | 1 | a Boggild, Mike4 aut |
| 700 | 1 | a Bradfield, Jonathan P.4 aut |
| 700 | 1 | a Brassat, David4 aut |
| 700 | 1 | a Broadley, Simon A.4 aut |
| 700 | 1 | a Buck, Dorothea4 aut |
| 700 | 1 | a Butzkueven, Helmut4 aut |
| 700 | 1 | a Capra, Ruggero4 aut |
| 700 | 1 | a Carroll, William M.4 aut |
| 700 | 1 | a Cavalla, Paola4 aut |
| 700 | 1 | a Celius, Elisabeth G.4 aut |
| 700 | 1 | a Cepok, Sabine4 aut |
| 700 | 1 | a Chiavacci, Rosetta4 aut |
| 700 | 1 | a Clerget-Darpoux, Francoise4 aut |
| 700 | 1 | a Clysters, Katleen4 aut |
| 700 | 1 | a Comi, Giancarlo4 aut |
| 700 | 1 | a Cossburn, Mark4 aut |
| 700 | 1 | a Cournu-Rebeix, Isabelle4 aut |
| 700 | 1 | a Cox, Mathew B.4 aut |
| 700 | 1 | a Cozen, Wendy4 aut |
| 700 | 1 | a Cree, Bruce A. C.4 aut |
| 700 | 1 | a Cross, Anne H.u Karolinska Institutet4 aut |
| 700 | 1 | a Cusi, Daniele4 aut |
| 700 | 1 | a Daly, Mark J.4 aut |
| 700 | 1 | a Davis, Emma4 aut |
| 700 | 1 | a de Bakker, Paul I. W.4 aut |
| 700 | 1 | a Debouverie, Marc4 aut |
| 700 | 1 | a D'hooghe, Marie Beatrice4 aut |
| 700 | 1 | a Dixon, Katherine4 aut |
| 700 | 1 | a Dobosi, Rita4 aut |
| 700 | 1 | a Dubois, Benedicte4 aut |
| 700 | 1 | a Ellinghaus, David4 aut |
| 700 | 1 | a Elovaara, Irina4 aut |
| 700 | 1 | a Esposito, Federica4 aut |
| 700 | 1 | a Fontenille, Claire4 aut |
| 700 | 1 | a Foote, Simon4 aut |
| 700 | 1 | a Franke, Andre4 aut |
| 700 | 1 | a Galimberti, Daniela4 aut |
| 700 | 1 | a Ghezzi, Angelo4 aut |
| 700 | 1 | a Glessner, Joseph4 aut |
| 700 | 1 | a Gomez, Refujia4 aut |
| 700 | 1 | a Gout, Olivier4 aut |
| 700 | 1 | a Graham, Colin4 aut |
| 700 | 1 | a Grant, Struan F. A.4 aut |
| 700 | 1 | a Guerini, Franca Rosa4 aut |
| 700 | 1 | a Hakonarson, Hakon4 aut |
| 700 | 1 | a Hall, Peru Karolinska Institutet4 aut |
| 700 | 1 | a Hamsten, Anders4 aut |
| 700 | 1 | a Hartung, Hans-Peter4 aut |
| 700 | 1 | a Heard, Rob N.4 aut |
| 700 | 1 | a Heath, Simon4 aut |
| 700 | 1 | a Hobart, Jeremy4 aut |
| 700 | 1 | a Hoshi, Muna4 aut |
| 700 | 1 | a Infante-Duarte, Carmen4 aut |
| 700 | 1 | a Ingram, Gillian4 aut |
| 700 | 1 | a Ingram, Wendy4 aut |
| 700 | 1 | a Islam, Talat4 aut |
| 700 | 1 | a Jagodic, Maja4 aut |
| 700 | 1 | a Kabesch, Michael4 aut |
| 700 | 1 | a Kermode, Allan G.4 aut |
| 700 | 1 | a Kilpatrick, Trevor J.4 aut |
| 700 | 1 | a Kim, Cecilia4 aut |
| 700 | 1 | a Klopp, Norman4 aut |
| 700 | 1 | a Koivisto, Keijo4 aut |
| 700 | 1 | a Larsson, Malin4 aut |
| 700 | 1 | a Lathrop, Mark4 aut |
| 700 | 1 | a Lechner-Scott, Jeannette S.4 aut |
| 700 | 1 | a Leone, Maurizio A.4 aut |
| 700 | 1 | a Leppa, Virpi4 aut |
| 700 | 1 | a Liljedahl, Ulrikau Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)ullil257 |
| 700 | 1 | a Bomfim, Izaura Limau Karolinska Institutet4 aut |
| 700 | 1 | a Lincoln, Robin R.4 aut |
| 700 | 1 | a Link, Jennyu Karolinska Institutet4 aut |
| 700 | 1 | a Liu, Jianjun4 aut |
| 700 | 1 | a Lorentzen, Aslaug R.4 aut |
| 700 | 1 | a Lupoli, Sara4 aut |
| 700 | 1 | a Macciardi, Fabio4 aut |
| 700 | 1 | a Mack, Thomas4 aut |
| 700 | 1 | a Marriott, Mark4 aut |
| 700 | 1 | a Martinelli, Vittorio4 aut |
| 700 | 1 | a Mason, Deborah4 aut |
| 700 | 1 | a McCauley, Jacob L.4 aut |
| 700 | 1 | a Mentch, Frank4 aut |
| 700 | 1 | a Mero, Inger-Lise4 aut |
| 700 | 1 | a Mihalova, Tania4 aut |
| 700 | 1 | a Montalban, Xavier4 aut |
| 700 | 1 | a Mottershead, John4 aut |
| 700 | 1 | a Myhr, Kjell-Morten4 aut |
| 700 | 1 | a Naldi, Paola4 aut |
| 700 | 1 | a Ollier, William4 aut |
| 700 | 1 | a Page, Alison4 aut |
| 700 | 1 | a Palotie, Aarno4 aut |
| 700 | 1 | a Pelletier, Jean4 aut |
| 700 | 1 | a Piccio, Laura4 aut |
| 700 | 1 | a Pickersgill, Trevor4 aut |
| 700 | 1 | a Piehl, Fredriku Karolinska Institutet4 aut |
| 700 | 1 | a Pobywajlo, Susan4 aut |
| 700 | 1 | a Quach, Hong L.4 aut |
| 700 | 1 | a Ramsay, Patricia P.4 aut |
| 700 | 1 | a Reunanen, Mauri4 aut |
| 700 | 1 | a Reynolds, Richard4 aut |
| 700 | 1 | a Rioux, Johnd.4 aut |
| 700 | 1 | a Rodegher, Mariaemma4 aut |
| 700 | 1 | a Roesner, Sabine4 aut |
| 700 | 1 | a Rubio, Justin P.4 aut |
| 700 | 1 | a Rueckert, Ina-Maria4 aut |
| 700 | 1 | a Salvetti, Marco4 aut |
| 700 | 1 | a Salvi, Erika4 aut |
| 700 | 1 | a Santaniello, Adam4 aut |
| 700 | 1 | a Schaefer, Catherine A.4 aut |
| 700 | 1 | a Schreiber, Stefan4 aut |
| 700 | 1 | a Schulze, Christian4 aut |
| 700 | 1 | a Scott, Rodney J.4 aut |
| 700 | 1 | a Sellebjerg, Finn4 aut |
| 700 | 1 | a Selmaj, Krzysztof W.4 aut |
| 700 | 1 | a Sexton, David4 aut |
| 700 | 1 | a Shen, Ling4 aut |
| 700 | 1 | a Simms-Acuna, Brigid4 aut |
| 700 | 1 | a Skidmore, Sheila4 aut |
| 700 | 1 | a Sleiman, Patrick M. A.4 aut |
| 700 | 1 | a Smestad, Cathrine4 aut |
| 700 | 1 | a Sorensen, Per Soelberg4 aut |
| 700 | 1 | a Sondergaard, Helle Bach4 aut |
| 700 | 1 | a Stankovich, Jim4 aut |
| 700 | 1 | a Strange, Richard C.4 aut |
| 700 | 1 | a Sulonen, Anna-Maija4 aut |
| 700 | 1 | a Sundqvist, Emilieu Karolinska Institutet4 aut |
| 700 | 1 | a Syvänen, Ann-Christineu Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)anncsyva |
| 700 | 1 | a Taddeo, Francesca4 aut |
| 700 | 1 | a Taylor, Bruce4 aut |
| 700 | 1 | a Blackwell, Jenefer M.4 aut |
| 700 | 1 | a Tienari, Pentti4 aut |
| 700 | 1 | a Bramon, Elvira4 aut |
| 700 | 1 | a Tourbah, Ayman4 aut |
| 700 | 1 | a Brown, Matthew A.4 aut |
| 700 | 1 | a Tronczynska, Ewa4 aut |
| 700 | 1 | a Casas, Juan P.4 aut |
| 700 | 1 | a Tubridy, Niall4 aut |
| 700 | 1 | a Corvin, Aiden4 aut |
| 700 | 1 | a Vickery, Jane4 aut |
| 700 | 1 | a Jankowski, Januszu Karolinska Institutet4 aut |
| 700 | 1 | a Villoslada, Pablo4 aut |
| 700 | 1 | a Markus, Hugh S.4 aut |
| 700 | 1 | a Wang, Kai4 aut |
| 700 | 1 | a Mathew, Christopher G.4 aut |
| 700 | 1 | a Wason, James4 aut |
| 700 | 1 | a Palmer, Colin N. A.4 aut |
| 700 | 1 | a Wichmann, H-Erich4 aut |
| 700 | 1 | a Plomin, Robert4 aut |
| 700 | 1 | a Willoughby, Ernest4 aut |
| 700 | 1 | a Rautanen, Anna4 aut |
| 700 | 1 | a Winkelmann, Juliane4 aut |
| 700 | 1 | a Wittig, Michael4 aut |
| 700 | 1 | a Trembath, Richard C.4 aut |
| 700 | 1 | a Yaouanq, Jacqueline4 aut |
| 700 | 1 | a Viswanathan, Ananth C.4 aut |
| 700 | 1 | a Zhang, Haitao4 aut |
| 700 | 1 | a Wood, Nicholas W.4 aut |
| 700 | 1 | a Zuvich, Rebecca4 aut |
| 700 | 1 | a Deloukas, Panos4 aut |
| 700 | 1 | a Langford, Cordelia4 aut |
| 700 | 1 | a Duncanson, Audrey4 aut |
| 700 | 1 | a Oksenberg, Jorge R.4 aut |
| 700 | 1 | a Pericak-Vance, Margaret A.4 aut |
| 700 | 1 | a Haines, Jonathan L.4 aut |
| 700 | 1 | a Olsson, Tomasu Karolinska Institutet4 aut |
| 700 | 1 | a Hillert, Jan4 aut |
| 700 | 1 | a Ivinson, Adrian J.4 aut |
| 700 | 1 | a De Jager, Philip L.4 aut |
| 700 | 1 | a Peltonen, Leena4 aut |
| 700 | 1 | a Stewart, Graeme J.4 aut |
| 700 | 1 | a Hafler, David A.4 aut |
| 700 | 1 | a Hauser, Stephen L.4 aut |
| 700 | 1 | a McVean, Gil4 aut |
| 700 | 1 | a Donnelly, Peter4 aut |
| 700 | 1 | a Compston, Alastair4 aut |
| 710 | 2 | a Karolinska Institutetb Molekylär medicin4 org |
| 773 | 0 | t Natured : Springer Science and Business Media LLCg 476:7359, s. 214-219q 476:7359<214-219x 0028-0836x 1476-4687 |
| 856 | 4 | u https://europepmc.org/articles/pmc3182531?pdf=render |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-158162 |
| 856 | 4 8 | u https://doi.org/10.1038/nature10251 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:123052117 |
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