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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. / Sawcer, Stephen; Hellenthal, Garrett; Pirinen, Matti; Spencer, Chris C. A.; Patsopoulos, Nikolaos A.; Moutsianas, Loukas; Dilthey, Alexander; Su, Zhan; Freeman, Colin; Hunt, Sarah E.; Edkins, Sarah; Gray, Emma; Booth, David R.; Potter, Simon C.; Goris, An; Band, Gavin; Oturai, Annette Bang; Strange, Amy; Saarela, Janna; Bellenguez, Celine; Fontaine, Bertrand; Gillman, Matthew; Hemmer, Bernhard; Gwilliam, Rhian; Zipp, Frauke; Jayakumar, Alagurevathi; Martin, Roland; Leslie, Stephen; Hawkins, Stanley; Giannoulatou, Eleni; D'alfonso, Sandra; Blackburn, Hannah; Boneschi, Filippo Martinelli; Liddle, Jennifer; Harbo, Hanne F.; Perez, Marc L.; Spurkland, Anne; Waller, Matthew J.; Mycko, Marcin P.; Ricketts, Michelle; Comabella, Manuel; Hammond, Naomi; Kockum, Ingrid; McCann, Owen T.; Ban, Maria; Whittaker, Pamela; Kemppinen, Anu; Weston, Paul; Hawkins, Clive; Widaa, Sara; Zajicek, John; Dronov, Serge; Robertson, Neil; Bumpstead, Suzannah J.; Barcellos, Lisa F.; Ravindrarajah, Rathi; Abraham, Roby; Alfredsson, Lars; Ardlie, Kristin; Aubin, Cristin; Baker, Amie; Baker, Katharine; Baranzini, Sergio E.; Bergamaschi, Laura; Bergamaschi, Roberto; Bernstein, Allan; Berthele, Achim; Boggild, Mike; Bradfield, Jonathan P.; Brassat, David; Broadley, Simon A.; Buck, Dorothea; Butzkueven, Helmut; Capra, Ruggero; Carroll, William M.; Cavalla, Paola; Celius, Elisabeth G.; Cepok, Sabine; Chiavacci, Rosetta; Clerget-Darpoux, Francoise; Clysters, Katleen; Comi, Giancarlo; Cossburn, Mark; Cournu-Rebeix, Isabelle; Cox, Mathew B.; Cozen, Wendy; Cree, Bruce A. C.; Cross, Anne H.; Cusi, Daniele; Daly, Mark J.; Davis, Emma; de Bakker, Paul I. W.; Debouverie, Marc; D'hooghe, Marie Beatrice; Dixon, Katherine; Dobosi, Rita; Dubois, Benedicte; Ellinghaus, David; Elovaara, Irina; Esposito, Federica; Fontenille, Claire; Foote, Simon; Franke, Andre; Galimberti, Daniela; Ghezzi, Angelo; Glessner, Joseph; Gomez, Refujia; Gout, Olivier; Graham, Colin; Grant, Struan F. A.; Guerini, Franca Rosa; Hakonarson, Hakon; Hall, Per; Hamsten, Anders; Hartung, Hans-Peter; Heard, Rob N.; Heath, Simon; Hobart, Jeremy; Hoshi, Muna; Infante-Duarte, Carmen; Ingram, Gillian; Ingram, Wendy; Islam, Talat; Jagodic, Maja; Kabesch, Michael; Kermode, Allan G.; Kilpatrick, Trevor J.; Kim, Cecilia; Klopp, Norman; Koivisto, Keijo; Larsson, Malin; Lathrop, Mark; Lechner-Scott, Jeannette S.; Leone, Maurizio A.; Leppa, Virpi; Liljedahl, Ulrika; Bomfim, Izaura Lima; Lincoln, Robin R.; Link, Jenny; Liu, Jianjun; Lorentzen, Aslaug R.; Lupoli, Sara; Macciardi, Fabio; Mack, Thomas; Marriott, Mark; Martinelli, Vittorio; Mason, Deborah; McCauley, Jacob L.; Mentch, Frank; Mero, Inger-Lise; Mihalova, Tania; Montalban, Xavier; Mottershead, John; Myhr, Kjell-Morten; Naldi, Paola; Ollier, William; Page, Alison; Palotie, Aarno; Pelletier, Jean; Piccio, Laura; Pickersgill, Trevor; Piehl, Fredrik; Pobywajlo, Susan; Quach, Hong L.; Ramsay, Patricia P.; Reunanen, Mauri; Reynolds, Richard; Rioux, Johnd.; Rodegher, Mariaemma; Roesner, Sabine; Rubio, Justin P.; Rueckert, Ina-Maria; Salvetti, Marco; Salvi, Erika; Santaniello, Adam; Schaefer, Catherine A.; Schreiber, Stefan; Schulze, Christian; Scott, Rodney J.; Sellebjerg, Finn; Selmaj, Krzysztof W.; Sexton, David; Shen, Ling; Simms-Acuna, Brigid; Skidmore, Sheila; Sleiman, Patrick M. A.; Smestad, Cathrine; Sorensen, Per Soelberg; Sondergaard, Helle Bach; Stankovich, Jim; Strange, Richard C.; Sulonen, Anna-Maija; Sundqvist, Emilie; Syvaenen, Ann-Christine; Taddeo, Francesca; Taylor, Bruce; Blackwell, Jenefer M.; Tienari, Pentti; Bramon, Elvira; Tourbah, Ayman; Brown, Matthew A.; Tronczynska, Ewa; Casas, Juan P.; Tubridy, Niall; Corvin, Aiden; Vickery, Jane; Jankowski, Janusz; Villoslada, Pablo; Markus, Hugh S.; Wang, Kai; Mathew, Christopher G.; Wason, James; Palmer, Colin N. A.; Wichmann, H-Erich; Plomin, Robert; Willoughby, Ernest; Rautanen, Anna; Winkelmann, Juliane; Wittig, Michael; Trembath, Richard C.; Yaouanq, Jacqueline; Viswanathan, Ananth C.; Zhang, Haitao; Wood, Nicholas W.; Zuvich, Rebecca; Deloukas, Panos; Langford, Cordelia; Duncanson, Audrey; Oksenberg, Jorge R.; Pericak-Vance, Margaret A.; Haines, Jonathan L.; Olsson, Tomas; Hillert, Jan; Ivinson, Adrian J.; De Jager, Philip L.; Peltonen, Leena; Stewart, Graeme J.; Hafler, David A.; Hauser, Stephen L.; McVean, Gil; Donnelly, Peter; Compston, Alastair; Wellcome Trust Case Control Consor, Int Multiple Sclerosis Genetics Co.

In: Nature, Vol. 476, No. 7359, 11.08.2011, p. 214-219.

Research output: Contribution to journalArticle

Harvard

Sawcer, S, Hellenthal, G, Pirinen, M, Spencer, CCA, Patsopoulos, NA, Moutsianas, L, Dilthey, A, Su, Z, Freeman, C, Hunt, SE, Edkins, S, Gray, E, Booth, DR, Potter, SC, Goris, A, Band, G, Oturai, AB, Strange, A, Saarela, J, Bellenguez, C, Fontaine, B, Gillman, M, Hemmer, B, Gwilliam, R, Zipp, F, Jayakumar, A, Martin, R, Leslie, S, Hawkins, S, Giannoulatou, E, D'alfonso, S, Blackburn, H, Boneschi, FM, Liddle, J, Harbo, HF, Perez, ML, Spurkland, A, Waller, MJ, Mycko, MP, Ricketts, M, Comabella, M, Hammond, N, Kockum, I, McCann, OT, Ban, M, Whittaker, P, Kemppinen, A, Weston, P, Hawkins, C, Widaa, S, Zajicek, J, Dronov, S, Robertson, N, Bumpstead, SJ, Barcellos, LF, Ravindrarajah, R, Abraham, R, Alfredsson, L, Ardlie, K, Aubin, C, Baker, A, Baker, K, Baranzini, SE, Bergamaschi, L, Bergamaschi, R, Bernstein, A, Berthele, A, Boggild, M, Bradfield, JP, Brassat, D, Broadley, SA, Buck, D, Butzkueven, H, Capra, R, Carroll, WM, Cavalla, P, Celius, EG, Cepok, S, Chiavacci, R, Clerget-Darpoux, F, Clysters, K, Comi, G, Cossburn, M, Cournu-Rebeix, I, Cox, MB, Cozen, W, Cree, BAC, Cross, AH, Cusi, D, Daly, MJ, Davis, E, de Bakker, PIW, Debouverie, M, D'hooghe, MB, Dixon, K, Dobosi, R, Dubois, B, Ellinghaus, D, Elovaara, I, Esposito, F, Fontenille, C, Foote, S, Franke, A, Galimberti, D, Ghezzi, A, Glessner, J, Gomez, R, Gout, O, Graham, C, Grant, SFA, Guerini, FR, Hakonarson, H, Hall, P, Hamsten, A, Hartung, H-P, Heard, RN, Heath, S, Hobart, J, Hoshi, M, Infante-Duarte, C, Ingram, G, Ingram, W, Islam, T, Jagodic, M, Kabesch, M, Kermode, AG, Kilpatrick, TJ, Kim, C, Klopp, N, Koivisto, K, Larsson, M, Lathrop, M, Lechner-Scott, JS, Leone, MA, Leppa, V, Liljedahl, U, Bomfim, IL, Lincoln, RR, Link, J, Liu, J, Lorentzen, AR, Lupoli, S, Macciardi, F, Mack, T, Marriott, M, Martinelli, V, Mason, D, McCauley, JL, Mentch, F, Mero, I-L, Mihalova, T, Montalban, X, Mottershead, J, Myhr, K-M, Naldi, P, Ollier, W, Page, A, Palotie, A, Pelletier, J, Piccio, L, Pickersgill, T, Piehl, F, Pobywajlo, S, Quach, HL, Ramsay, PP, Reunanen, M, Reynolds, R, Rioux, J, Rodegher, M, Roesner, S, Rubio, JP, Rueckert, I-M, Salvetti, M, Salvi, E, Santaniello, A, Schaefer, CA, Schreiber, S, Schulze, C, Scott, RJ, Sellebjerg, F, Selmaj, KW, Sexton, D, Shen, L, Simms-Acuna, B, Skidmore, S, Sleiman, PMA, Smestad, C, Sorensen, PS, Sondergaard, HB, Stankovich, J, Strange, RC, Sulonen, A-M, Sundqvist, E, Syvaenen, A-C, Taddeo, F, Taylor, B, Blackwell, JM, Tienari, P, Bramon, E, Tourbah, A, Brown, MA, Tronczynska, E, Casas, JP, Tubridy, N, Corvin, A, Vickery, J, Jankowski, J, Villoslada, P, Markus, HS, Wang, K, Mathew, CG, Wason, J, Palmer, CNA, Wichmann, H-E, Plomin, R, Willoughby, E, Rautanen, A, Winkelmann, J, Wittig, M, Trembath, RC, Yaouanq, J, Viswanathan, AC, Zhang, H, Wood, NW, Zuvich, R, Deloukas, P, Langford, C, Duncanson, A, Oksenberg, JR, Pericak-Vance, MA, Haines, JL, Olsson, T, Hillert, J, Ivinson, AJ, De Jager, PL, Peltonen, L, Stewart, GJ, Hafler, DA, Hauser, SL, McVean, G, Donnelly, P, Compston, A & Wellcome Trust Case Control Consor, Int Multiple Sclerosis Genetics Co 2011, 'Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis' Nature, vol 476, no. 7359, pp. 214-219. DOI: 10.1038/nature10251

APA

Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C. C. A., Patsopoulos, N. A., Moutsianas, L., ... Wellcome Trust Case Control Consor, Int Multiple Sclerosis Genetics Co (2011). Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature, 476(7359), 214-219. DOI: 10.1038/nature10251

Vancouver

Sawcer S, Hellenthal G, Pirinen M, Spencer CCA, Patsopoulos NA, Moutsianas L et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 2011 Aug 11;476(7359):214-219. Available from, DOI: 10.1038/nature10251

Author

Sawcer, Stephen; Hellenthal, Garrett; Pirinen, Matti; Spencer, Chris C. A.; Patsopoulos, Nikolaos A.; Moutsianas, Loukas; Dilthey, Alexander; Su, Zhan; Freeman, Colin; Hunt, Sarah E.; Edkins, Sarah; Gray, Emma; Booth, David R.; Potter, Simon C.; Goris, An; Band, Gavin; Oturai, Annette Bang; Strange, Amy; Saarela, Janna; Bellenguez, Celine; Fontaine, Bertrand; Gillman, Matthew; Hemmer, Bernhard; Gwilliam, Rhian; Zipp, Frauke; Jayakumar, Alagurevathi; Martin, Roland; Leslie, Stephen; Hawkins, Stanley; Giannoulatou, Eleni; D'alfonso, Sandra; Blackburn, Hannah; Boneschi, Filippo Martinelli; Liddle, Jennifer; Harbo, Hanne F.; Perez, Marc L.; Spurkland, Anne; Waller, Matthew J.; Mycko, Marcin P.; Ricketts, Michelle; Comabella, Manuel; Hammond, Naomi; Kockum, Ingrid; McCann, Owen T.; Ban, Maria; Whittaker, Pamela; Kemppinen, Anu; Weston, Paul; Hawkins, Clive; Widaa, Sara; Zajicek, John; Dronov, Serge; Robertson, Neil; Bumpstead, Suzannah J.; Barcellos, Lisa F.; Ravindrarajah, Rathi; Abraham, Roby; Alfredsson, Lars; Ardlie, Kristin; Aubin, Cristin; Baker, Amie; Baker, Katharine; Baranzini, Sergio E.; Bergamaschi, Laura; Bergamaschi, Roberto; Bernstein, Allan; Berthele, Achim; Boggild, Mike; Bradfield, Jonathan P.; Brassat, David; Broadley, Simon A.; Buck, Dorothea; Butzkueven, Helmut; Capra, Ruggero; Carroll, William M.; Cavalla, Paola; Celius, Elisabeth G.; Cepok, Sabine; Chiavacci, Rosetta; Clerget-Darpoux, Francoise; Clysters, Katleen; Comi, Giancarlo; Cossburn, Mark; Cournu-Rebeix, Isabelle; Cox, Mathew B.; Cozen, Wendy; Cree, Bruce A. C.; Cross, Anne H.; Cusi, Daniele; Daly, Mark J.; Davis, Emma; de Bakker, Paul I. W.; Debouverie, Marc; D'hooghe, Marie Beatrice; Dixon, Katherine; Dobosi, Rita; Dubois, Benedicte; Ellinghaus, David; Elovaara, Irina; Esposito, Federica; Fontenille, Claire; Foote, Simon; Franke, Andre; Galimberti, Daniela; Ghezzi, Angelo; Glessner, Joseph; Gomez, Refujia; Gout, Olivier; Graham, Colin; Grant, Struan F. A.; Guerini, Franca Rosa; Hakonarson, Hakon; Hall, Per; Hamsten, Anders; Hartung, Hans-Peter; Heard, Rob N.; Heath, Simon; Hobart, Jeremy; Hoshi, Muna; Infante-Duarte, Carmen; Ingram, Gillian; Ingram, Wendy; Islam, Talat; Jagodic, Maja; Kabesch, Michael; Kermode, Allan G.; Kilpatrick, Trevor J.; Kim, Cecilia; Klopp, Norman; Koivisto, Keijo; Larsson, Malin; Lathrop, Mark; Lechner-Scott, Jeannette S.; Leone, Maurizio A.; Leppa, Virpi; Liljedahl, Ulrika; Bomfim, Izaura Lima; Lincoln, Robin R.; Link, Jenny; Liu, Jianjun; Lorentzen, Aslaug R.; Lupoli, Sara; Macciardi, Fabio; Mack, Thomas; Marriott, Mark; Martinelli, Vittorio; Mason, Deborah; McCauley, Jacob L.; Mentch, Frank; Mero, Inger-Lise; Mihalova, Tania; Montalban, Xavier; Mottershead, John; Myhr, Kjell-Morten; Naldi, Paola; Ollier, William; Page, Alison; Palotie, Aarno; Pelletier, Jean; Piccio, Laura; Pickersgill, Trevor; Piehl, Fredrik; Pobywajlo, Susan; Quach, Hong L.; Ramsay, Patricia P.; Reunanen, Mauri; Reynolds, Richard; Rioux, Johnd.; Rodegher, Mariaemma; Roesner, Sabine; Rubio, Justin P.; Rueckert, Ina-Maria; Salvetti, Marco; Salvi, Erika; Santaniello, Adam; Schaefer, Catherine A.; Schreiber, Stefan; Schulze, Christian; Scott, Rodney J.; Sellebjerg, Finn; Selmaj, Krzysztof W.; Sexton, David; Shen, Ling; Simms-Acuna, Brigid; Skidmore, Sheila; Sleiman, Patrick M. A.; Smestad, Cathrine; Sorensen, Per Soelberg; Sondergaard, Helle Bach; Stankovich, Jim; Strange, Richard C.; Sulonen, Anna-Maija; Sundqvist, Emilie; Syvaenen, Ann-Christine; Taddeo, Francesca; Taylor, Bruce; Blackwell, Jenefer M.; Tienari, Pentti; Bramon, Elvira; Tourbah, Ayman; Brown, Matthew A.; Tronczynska, Ewa; Casas, Juan P.; Tubridy, Niall; Corvin, Aiden; Vickery, Jane; Jankowski, Janusz; Villoslada, Pablo; Markus, Hugh S.; Wang, Kai; Mathew, Christopher G.; Wason, James; Palmer, Colin N. A.; Wichmann, H-Erich; Plomin, Robert; Willoughby, Ernest; Rautanen, Anna; Winkelmann, Juliane; Wittig, Michael; Trembath, Richard C.; Yaouanq, Jacqueline; Viswanathan, Ananth C.; Zhang, Haitao; Wood, Nicholas W.; Zuvich, Rebecca; Deloukas, Panos; Langford, Cordelia; Duncanson, Audrey; Oksenberg, Jorge R.; Pericak-Vance, Margaret A.; Haines, Jonathan L.; Olsson, Tomas; Hillert, Jan; Ivinson, Adrian J.; De Jager, Philip L.; Peltonen, Leena; Stewart, Graeme J.; Hafler, David A.; Hauser, Stephen L.; McVean, Gil; Donnelly, Peter; Compston, Alastair; Wellcome Trust Case Control Consor, Int Multiple Sclerosis Genetics Co / Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

In: Nature, Vol. 476, No. 7359, 11.08.2011, p. 214-219.

Research output: Contribution to journalArticle

Bibtex - Download

@article{1a59be80bbd1430f8b4436bb5c6f0cb9,
title = "Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis",
keywords = "GENOME-WIDE ASSOCIATION, SUSCEPTIBILITY LOCI, HETEROGENEITY, HAPLOTYPES, VARIANTS, ALLELES",
author = "Stephen Sawcer and Garrett Hellenthal and Matti Pirinen and Spencer, {Chris C. A.} and Patsopoulos, {Nikolaos A.} and Loukas Moutsianas and Alexander Dilthey and Zhan Su and Colin Freeman and Hunt, {Sarah E.} and Sarah Edkins and Emma Gray and Booth, {David R.} and Potter, {Simon C.} and An Goris and Gavin Band and Oturai, {Annette Bang} and Amy Strange and Janna Saarela and Celine Bellenguez and Bertrand Fontaine and Matthew Gillman and Bernhard Hemmer and Rhian Gwilliam and Frauke Zipp and Alagurevathi Jayakumar and Roland Martin and Stephen Leslie and Stanley Hawkins and Eleni Giannoulatou and Sandra D'alfonso and Hannah Blackburn and Boneschi, {Filippo Martinelli} and Jennifer Liddle and Harbo, {Hanne F.} and Perez, {Marc L.} and Anne Spurkland and Waller, {Matthew J.} and Mycko, {Marcin P.} and Michelle Ricketts and Manuel Comabella and Naomi Hammond and Ingrid Kockum and McCann, {Owen T.} and Maria Ban and Pamela Whittaker and Anu Kemppinen and Paul Weston and Clive Hawkins and Sara Widaa and John Zajicek and Serge Dronov and Neil Robertson and Bumpstead, {Suzannah J.} and Barcellos, {Lisa F.} and Rathi Ravindrarajah and Roby Abraham and Lars Alfredsson and Kristin Ardlie and Cristin Aubin and Amie Baker and Katharine Baker and Baranzini, {Sergio E.} and Laura Bergamaschi and Roberto Bergamaschi and Allan Bernstein and Achim Berthele and Mike Boggild and Bradfield, {Jonathan P.} and David Brassat and Broadley, {Simon A.} and Dorothea Buck and Helmut Butzkueven and Ruggero Capra and Carroll, {William M.} and Paola Cavalla and Celius, {Elisabeth G.} and Sabine Cepok and Rosetta Chiavacci and Francoise Clerget-Darpoux and Katleen Clysters and Giancarlo Comi and Mark Cossburn and Isabelle Cournu-Rebeix and Cox, {Mathew B.} and Wendy Cozen and Cree, {Bruce A. C.} and Cross, {Anne H.} and Daniele Cusi and Daly, {Mark J.} and Emma Davis and {de Bakker}, {Paul I. W.} and Marc Debouverie and D'hooghe, {Marie Beatrice} and Katherine Dixon and Rita Dobosi and Benedicte Dubois and David Ellinghaus and Irina Elovaara and Federica Esposito and Claire Fontenille and Simon Foote and Andre Franke and Daniela Galimberti and Angelo Ghezzi and Joseph Glessner and Refujia Gomez and Olivier Gout and Colin Graham and Grant, {Struan F. A.} and Guerini, {Franca Rosa} and Hakon Hakonarson and Per Hall and Anders Hamsten and Hans-Peter Hartung and Heard, {Rob N.} and Simon Heath and Jeremy Hobart and Muna Hoshi and Carmen Infante-Duarte and Gillian Ingram and Wendy Ingram and Talat Islam and Maja Jagodic and Michael Kabesch and Kermode, {Allan G.} and Kilpatrick, {Trevor J.} and Cecilia Kim and Norman Klopp and Keijo Koivisto and Malin Larsson and Mark Lathrop and Lechner-Scott, {Jeannette S.} and Leone, {Maurizio A.} and Virpi Leppa and Ulrika Liljedahl and Bomfim, {Izaura Lima} and Lincoln, {Robin R.} and Jenny Link and Jianjun Liu and Lorentzen, {Aslaug R.} and Sara Lupoli and Fabio Macciardi and Thomas Mack and Mark Marriott and Vittorio Martinelli and Deborah Mason and McCauley, {Jacob L.} and Frank Mentch and Inger-Lise Mero and Tania Mihalova and Xavier Montalban and John Mottershead and Kjell-Morten Myhr and Paola Naldi and William Ollier and Alison Page and Aarno Palotie and Jean Pelletier and Laura Piccio and Trevor Pickersgill and Fredrik Piehl and Susan Pobywajlo and Quach, {Hong L.} and Ramsay, {Patricia P.} and Mauri Reunanen and Richard Reynolds and Johnd. Rioux and Mariaemma Rodegher and Sabine Roesner and Rubio, {Justin P.} and Ina-Maria Rueckert and Marco Salvetti and Erika Salvi and Adam Santaniello and Schaefer, {Catherine A.} and Stefan Schreiber and Christian Schulze and Scott, {Rodney J.} and Finn Sellebjerg and Selmaj, {Krzysztof W.} and David Sexton and Ling Shen and Brigid Simms-Acuna and Sheila Skidmore and Sleiman, {Patrick M. A.} and Cathrine Smestad and Sorensen, {Per Soelberg} and Sondergaard, {Helle Bach} and Jim Stankovich and Strange, {Richard C.} and Anna-Maija Sulonen and Emilie Sundqvist and Ann-Christine Syvaenen and Francesca Taddeo and Bruce Taylor and Blackwell, {Jenefer M.} and Pentti Tienari and Elvira Bramon and Ayman Tourbah and Brown, {Matthew A.} and Ewa Tronczynska and Casas, {Juan P.} and Niall Tubridy and Aiden Corvin and Jane Vickery and Janusz Jankowski and Pablo Villoslada and Markus, {Hugh S.} and Kai Wang and Mathew, {Christopher G.} and James Wason and Palmer, {Colin N. A.} and H-Erich Wichmann and Robert Plomin and Ernest Willoughby and Anna Rautanen and Juliane Winkelmann and Michael Wittig and Trembath, {Richard C.} and Jacqueline Yaouanq and Viswanathan, {Ananth C.} and Haitao Zhang and Wood, {Nicholas W.} and Rebecca Zuvich and Panos Deloukas and Cordelia Langford and Audrey Duncanson and Oksenberg, {Jorge R.} and Pericak-Vance, {Margaret A.} and Haines, {Jonathan L.} and Tomas Olsson and Jan Hillert and Ivinson, {Adrian J.} and {De Jager}, {Philip L.} and Leena Peltonen and Stewart, {Graeme J.} and Hafler, {David A.} and Hauser, {Stephen L.} and Gil McVean and Peter Donnelly and Alastair Compston and {Wellcome Trust Case Control Consor, Int Multiple Sclerosis Genetics Co}",
year = "2011",
month = "8",
doi = "10.1038/nature10251",
volume = "476",
pages = "214--219",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "7359",

}

RIS (suitable for import to EndNote) - Download

TY - JOUR

T1 - Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

AU - Sawcer,Stephen

AU - Hellenthal,Garrett

AU - Pirinen,Matti

AU - Spencer,Chris C. A.

AU - Patsopoulos,Nikolaos A.

AU - Moutsianas,Loukas

AU - Dilthey,Alexander

AU - Su,Zhan

AU - Freeman,Colin

AU - Hunt,Sarah E.

AU - Edkins,Sarah

AU - Gray,Emma

AU - Booth,David R.

AU - Potter,Simon C.

AU - Goris,An

AU - Band,Gavin

AU - Oturai,Annette Bang

AU - Strange,Amy

AU - Saarela,Janna

AU - Bellenguez,Celine

AU - Fontaine,Bertrand

AU - Gillman,Matthew

AU - Hemmer,Bernhard

AU - Gwilliam,Rhian

AU - Zipp,Frauke

AU - Jayakumar,Alagurevathi

AU - Martin,Roland

AU - Leslie,Stephen

AU - Hawkins,Stanley

AU - Giannoulatou,Eleni

AU - D'alfonso,Sandra

AU - Blackburn,Hannah

AU - Boneschi,Filippo Martinelli

AU - Liddle,Jennifer

AU - Harbo,Hanne F.

AU - Perez,Marc L.

AU - Spurkland,Anne

AU - Waller,Matthew J.

AU - Mycko,Marcin P.

AU - Ricketts,Michelle

AU - Comabella,Manuel

AU - Hammond,Naomi

AU - Kockum,Ingrid

AU - McCann,Owen T.

AU - Ban,Maria

AU - Whittaker,Pamela

AU - Kemppinen,Anu

AU - Weston,Paul

AU - Hawkins,Clive

AU - Widaa,Sara

AU - Zajicek,John

AU - Dronov,Serge

AU - Robertson,Neil

AU - Bumpstead,Suzannah J.

AU - Barcellos,Lisa F.

AU - Ravindrarajah,Rathi

AU - Abraham,Roby

AU - Alfredsson,Lars

AU - Ardlie,Kristin

AU - Aubin,Cristin

AU - Baker,Amie

AU - Baker,Katharine

AU - Baranzini,Sergio E.

AU - Bergamaschi,Laura

AU - Bergamaschi,Roberto

AU - Bernstein,Allan

AU - Berthele,Achim

AU - Boggild,Mike

AU - Bradfield,Jonathan P.

AU - Brassat,David

AU - Broadley,Simon A.

AU - Buck,Dorothea

AU - Butzkueven,Helmut

AU - Capra,Ruggero

AU - Carroll,William M.

AU - Cavalla,Paola

AU - Celius,Elisabeth G.

AU - Cepok,Sabine

AU - Chiavacci,Rosetta

AU - Clerget-Darpoux,Francoise

AU - Clysters,Katleen

AU - Comi,Giancarlo

AU - Cossburn,Mark

AU - Cournu-Rebeix,Isabelle

AU - Cox,Mathew B.

AU - Cozen,Wendy

AU - Cree,Bruce A. C.

AU - Cross,Anne H.

AU - Cusi,Daniele

AU - Daly,Mark J.

AU - Davis,Emma

AU - de Bakker,Paul I. W.

AU - Debouverie,Marc

AU - D'hooghe,Marie Beatrice

AU - Dixon,Katherine

AU - Dobosi,Rita

AU - Dubois,Benedicte

AU - Ellinghaus,David

AU - Elovaara,Irina

AU - Esposito,Federica

AU - Fontenille,Claire

AU - Foote,Simon

AU - Franke,Andre

AU - Galimberti,Daniela

AU - Ghezzi,Angelo

AU - Glessner,Joseph

AU - Gomez,Refujia

AU - Gout,Olivier

AU - Graham,Colin

AU - Grant,Struan F. A.

AU - Guerini,Franca Rosa

AU - Hakonarson,Hakon

AU - Hall,Per

AU - Hamsten,Anders

AU - Hartung,Hans-Peter

AU - Heard,Rob N.

AU - Heath,Simon

AU - Hobart,Jeremy

AU - Hoshi,Muna

AU - Infante-Duarte,Carmen

AU - Ingram,Gillian

AU - Ingram,Wendy

AU - Islam,Talat

AU - Jagodic,Maja

AU - Kabesch,Michael

AU - Kermode,Allan G.

AU - Kilpatrick,Trevor J.

AU - Kim,Cecilia

AU - Klopp,Norman

AU - Koivisto,Keijo

AU - Larsson,Malin

AU - Lathrop,Mark

AU - Lechner-Scott,Jeannette S.

AU - Leone,Maurizio A.

AU - Leppa,Virpi

AU - Liljedahl,Ulrika

AU - Bomfim,Izaura Lima

AU - Lincoln,Robin R.

AU - Link,Jenny

AU - Liu,Jianjun

AU - Lorentzen,Aslaug R.

AU - Lupoli,Sara

AU - Macciardi,Fabio

AU - Mack,Thomas

AU - Marriott,Mark

AU - Martinelli,Vittorio

AU - Mason,Deborah

AU - McCauley,Jacob L.

AU - Mentch,Frank

AU - Mero,Inger-Lise

AU - Mihalova,Tania

AU - Montalban,Xavier

AU - Mottershead,John

AU - Myhr,Kjell-Morten

AU - Naldi,Paola

AU - Ollier,William

AU - Page,Alison

AU - Palotie,Aarno

AU - Pelletier,Jean

AU - Piccio,Laura

AU - Pickersgill,Trevor

AU - Piehl,Fredrik

AU - Pobywajlo,Susan

AU - Quach,Hong L.

AU - Ramsay,Patricia P.

AU - Reunanen,Mauri

AU - Reynolds,Richard

AU - Rioux,Johnd.

AU - Rodegher,Mariaemma

AU - Roesner,Sabine

AU - Rubio,Justin P.

AU - Rueckert,Ina-Maria

AU - Salvetti,Marco

AU - Salvi,Erika

AU - Santaniello,Adam

AU - Schaefer,Catherine A.

AU - Schreiber,Stefan

AU - Schulze,Christian

AU - Scott,Rodney J.

AU - Sellebjerg,Finn

AU - Selmaj,Krzysztof W.

AU - Sexton,David

AU - Shen,Ling

AU - Simms-Acuna,Brigid

AU - Skidmore,Sheila

AU - Sleiman,Patrick M. A.

AU - Smestad,Cathrine

AU - Sorensen,Per Soelberg

AU - Sondergaard,Helle Bach

AU - Stankovich,Jim

AU - Strange,Richard C.

AU - Sulonen,Anna-Maija

AU - Sundqvist,Emilie

AU - Syvaenen,Ann-Christine

AU - Taddeo,Francesca

AU - Taylor,Bruce

AU - Blackwell,Jenefer M.

AU - Tienari,Pentti

AU - Bramon,Elvira

AU - Tourbah,Ayman

AU - Brown,Matthew A.

AU - Tronczynska,Ewa

AU - Casas,Juan P.

AU - Tubridy,Niall

AU - Corvin,Aiden

AU - Vickery,Jane

AU - Jankowski,Janusz

AU - Villoslada,Pablo

AU - Markus,Hugh S.

AU - Wang,Kai

AU - Mathew,Christopher G.

AU - Wason,James

AU - Palmer,Colin N. A.

AU - Wichmann,H-Erich

AU - Plomin,Robert

AU - Willoughby,Ernest

AU - Rautanen,Anna

AU - Winkelmann,Juliane

AU - Wittig,Michael

AU - Trembath,Richard C.

AU - Yaouanq,Jacqueline

AU - Viswanathan,Ananth C.

AU - Zhang,Haitao

AU - Wood,Nicholas W.

AU - Zuvich,Rebecca

AU - Deloukas,Panos

AU - Langford,Cordelia

AU - Duncanson,Audrey

AU - Oksenberg,Jorge R.

AU - Pericak-Vance,Margaret A.

AU - Haines,Jonathan L.

AU - Olsson,Tomas

AU - Hillert,Jan

AU - Ivinson,Adrian J.

AU - De Jager,Philip L.

AU - Peltonen,Leena

AU - Stewart,Graeme J.

AU - Hafler,David A.

AU - Hauser,Stephen L.

AU - McVean,Gil

AU - Donnelly,Peter

AU - Compston,Alastair

AU - Wellcome Trust Case Control Consor, Int Multiple Sclerosis Genetics Co

PY - 2011/8/11

Y1 - 2011/8/11

N2 - <p>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(1). 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(2,3), 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(4). Modestly powered genome-wide association studies (GWAS)(5-10) 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(11). 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.</p>

AB - <p>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(1). 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(2,3), 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(4). Modestly powered genome-wide association studies (GWAS)(5-10) 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(11). 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.</p>

KW - GENOME-WIDE ASSOCIATION

KW - SUSCEPTIBILITY LOCI

KW - HETEROGENEITY

KW - HAPLOTYPES

KW - VARIANTS

KW - ALLELES

U2 - 10.1038/nature10251

DO - 10.1038/nature10251

M3 - Article

VL - 476

SP - 214

EP - 219

JO - Nature

T2 - Nature

JF - Nature

SN - 0028-0836

IS - 7359

ER -

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