Journal ArticleDOI
Risk alleles for multiple sclerosis identified by a genomewide study.
David A. Hafler,Alastair Compston,Stephen Sawcer,Mark J. Daly,Philip L. De Jager,Stacey Gabriel,Daniel B. Mirel,Adrian J. Ivinson,Margaret A. Pericak-Vance,Simon G. Gregory,John D. Rioux,John D. Rioux,Jacob L. McCauley,Lisa F. Barcellos,Lisa F. Barcellos,Bruce A.C. Cree,Stephen L. Hauser +16 more
TLDR
Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for multiple sclerosis.Abstract:
�Background Multiple sclerosis has a clinically significant heritable component. We conducted a genomewide association study to identify alleles associated with the risk of multiple sclerosis. Methods We used DNA microarray technology to identify common DNA sequence variants in 931 family trios (consisting of an affected child and both parents) and tested them for association. For replication, we genotyped another 609 family trios, 2322 case subjects, and 789 control subjects and used genotyping data from two external control data sets. A joint analysis of data from 12,360 subjects was performed to estimate the overall significance and effect size of associations between alleles and the risk of multiple sclerosis. Results A transmission disequilibrium test of 334,923 single-nucleotide polymorphisms (SNPs) in 931 family trios revealed 49 SNPs having an association with multiple sclerosis (P<1×10 −4 ); of these SNPs, 38 were selected for the second-stage analysis. A comparison between the 931 case subjects from the family trios and 2431 control subjects identified an additional nonoverlapping 32 SNPs (P<0.001). An additional 40 SNPs with less stringent P values (<0.01) were also selected, for a total of 110 SNPs for the second-stage analysis. Of these SNPs, two within the interleukin-2 receptor α gene (IL2RA) were strongly associated with multiple sclerosis (P = 2.96×10 −8 ), as were a nonsynonymous SNP in the interleukin-7 receptor α gene (IL7RA) (P = 2.94×10 −7 ) and multiple SNPs in the HLA-DRA locus (P = 8.94×10 −81 ).read more
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Journal ArticleDOI
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Stephen Sawcer,Garrett Hellenthal,Matti Pirinen,Chris C. A. Spencer,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Loukas Moutsianas,Alexander T. Dilthey,Zhan Su,Colin Freeman,Sarah E. Hunt,Sarah Edkins,Emma Gray,David R. Booth,Simon C. Potter,An Goris,Gavin Band,Annette Bang Oturai,A. Strange,Janna Saarela,Céline Bellenguez,Bertrand Fontaine,Matthew W. Gillman,Bernhard Hemmer,Rhian Gwilliam,Frauke Zipp,Alagurevathi Jayakumar,Roland Martin,Stephen Leslie,Stanley Hawkins,Eleni Giannoulatou,Sandra D'Alfonso,Hannah Blackburn,Filippo Martinelli Boneschi,Jennifer Liddle,Hanne F. Harbo,Hanne F. Harbo,M. Perez,Anne Spurkland,Matthew Waller,Marcin P. Mycko,Michelle Ricketts,Manuel Comabella,Naomi Hammond,Ingrid Kockum,O. T. McCann,Maria Ban,Pamela Whittaker,Anu Kemppinen,Paul A. Weston,Clive Hawkins,Sara Widaa,John Zajicek,John Zajicek,Serge Dronov,Neil Robertson,Suzannah Bumpstead,Lisa F. Barcellos,Lisa F. Barcellos,Rathi Ravindrarajah,Roby Abraham,Lars Alfredsson,Kristin G. Ardlie,Cristin Aubin,Amie Baker,K Baker,Sergio E. Baranzini,Laura Bergamaschi,Roberto Bergamaschi,Allan L. Bernstein,Achim Berthele,Mike Boggild,Jonathan P. Bradfield,David Brassat,Simon Broadley,Dorothea Buck,Helmut Butzkueven,Ruggero Capra,William M. Carroll,Paola Cavalla,Elisabeth Gulowsen Celius,Sabine Cepok,Rosetta M. Chiavacci,Françoise Clerget-Darpoux,Katleen Clysters,Giancarlo Comi,Mark D. Cossburn,Isabelle Cournu-Rebeix,M. B. Cox,Wendy Cozen,Bruce A.C. Cree,Anne H. Cross,Daniele Cusi,Mark J. Daly,Mark J. Daly,Emma J. Davis,Paul I.W. de Bakker,Paul I.W. de Bakker,Paul I.W. de Bakker,Marc Debouverie,Marie B. D'hooghe,K Dixon,Rita Dobosi,Bénédicte Dubois,David Ellinghaus,Irina Elovaara,Federica Esposito,Claire Fontenille,Simon J. Foote,Andre Franke,Daniela Galimberti,Angelo Ghezzi,Joseph T. Glessner,Refujia Gomez,Olivier Gout,Colin A. Graham,Struan F.A. Grant,Struan F.A. Grant,Franca Rosa Guerini,Hakon Hakonarson,Hakon Hakonarson,Per Hall,Anders Hamsten,Hans-Peter Hartung,Robert Heard,Simon Heath,Jeremy Hobart,Jeremy Hobart,Muna Hoshi,Carmen Infante-Duarte,Gillian Ingram,Wendy Ingram,Wendy Ingram,Talat Islam,Maja Jagodic,Michael Kabesch,Allan G. Kermode,Trevor J. Kilpatrick,Cecilia Kim,Norman Klopp,Keijo Koivisto,Malin Larsson,Mark Lathrop,Jeannette Lechner-Scott,Maurizio Leone,Virpi M. Leppä,Ulrika Liljedahl,Izaura Lima Bomfim,Robin R. Lincoln,Jenny Link,Jianjun Liu,Åslaug R. Lorentzen,Åslaug R. Lorentzen,Sara Lupoli,Fabio Macciardi,Fabio Macciardi,Thomas M. Mack,Mark Marriott,Vittorio Martinelli,Deborah F. Mason,Jacob L. McCauley,Frank D. Mentch,Inger-Lise Mero,Tania Mihalova,Xavier Montalban,John Mottershead,Kjell-Morten Myhr,Paola Naldi,William E R Ollier,Alison Page,Aarno Palotie,Jean Pelletier,Laura Piccio,Trevor Pickersgill,Fredrik Piehl,Susan Pobywajlo,Hong L. Quach,Patricia P. Ramsay,Mauri Reunanen,Richard Reynolds,John D. Rioux,John D. Rioux,Mariaemma Rodegher,Sabine Roesner,Justin P. Rubio,Ina-Maria Rueckert,Marco Salvetti,Erika Salvi,Adam Santaniello,Catherine Schaefer,Stefan Schreiber,Christian Schulze,Rodney J. Scott,Finn Sellebjerg,Krzysztof Selmaj,David Sexton,Ling Shen,Brigid Simms-Acuna,Sheila Skidmore,Patrick M. A. Sleiman,C. Smestad,Per Soelberg Sørensen,Helle Bach Søndergaard,Jim Stankovich,Richard C. Strange,Anna-Maija Sulonen,Emilie Sundqvist,Ann-Christine Syvaenen,Francesca Taddeo,Bruce V. Taylor,Jenefer M. Blackwell,Jenefer M. Blackwell,Jenefer M. Blackwell,Pentti J. Tienari,Elvira Bramon,Ayman Tourbah,Matthew A. Brown,Ewa Tronczynska,Juan P. Casas,Niall Tubridy,Aiden Corvin,Jane Vickery,Jane Vickery,Janusz Jankowski,Pablo Villoslada,Hugh S. Markus,Kai Wang,Christopher G. Mathew,James Wason,Colin N. A. Palmer,H-Erich Wichmann,H-Erich Wichmann,Robert Plomin,Ernest Willoughby,Anna Rautanen,Juliane Winkelmann,Michael Wittig,Richard C. Trembath,J. Yaouanq,Ananth C. Viswanathan,Ananth C. Viswanathan,Haitao Zhang,Nicholas W. Wood,Rebecca L. Zuvich,Panos Deloukas,Cordelia Langford,Audrey Duncanson,Jorge R. Oksenberg,Margaret A. Pericak-Vance,Jonathan L. Haines,Tomas Olsson,Jan Hillert,Adrian J. Ivinson,Philip L. De Jager,Philip L. De Jager,Philip L. De Jager,Leena Peltonen,Graeme J. Stewart,David A. Hafler,David A. Hafler,Stephen L. Hauser,Gil McVean,Peter Donnelly,Peter Donnelly,Alastair Compston +265 more
TL;DR: In this article, a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, they have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci.
Journal ArticleDOI
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
Georg Ehret,Georg Ehret,Georg Ehret,Patricia B. Munroe,Kenneth Rice,Murielle Bochud,Andrew D. Johnson,Daniel I. Chasman,Albert V. Smith,Martin D. Tobin,Germaine C. Verwoert,Shih-Jen Hwang,Vasyl Pihur,Peter Vollenweider,Paul F. O'Reilly,Najaf Amin,Jennifer L. Bragg-Gresham,Alexander Teumer,Nicole L. Glazer,Lenore J. Launer,Jing Hua Zhao,Yurii S. Aulchenko,Simon Heath,Siim Sõber,Afshin Parsa,Jian'an Luan,Pankaj Arora,Abbas Dehghan,Feng Zhang,Gavin Lucas,Andrew A. Hicks,Anne U. Jackson,John F. Peden,Toshiko Tanaka,Sarah H. Wild,Igor Rudan,Igor Rudan,Wilmar Igl,Yuri Milaneschi,Alex Parker,Cristiano Fava,Cristiano Fava,John C. Chambers,John C. Chambers,Ervin R. Fox,Meena Kumari,Min Jin Go,Pim van der Harst,Wen Hong Linda Kao,Marketa Sjögren,D. G. Vinay,Myriam Alexander,Yasuharu Tabara,Sue Shaw-Hawkins,Peter H. Whincup,Yongmei Liu,Gang Shi,Johanna Kuusisto,Bamidele O. Tayo,Mark Seielstad,Mark Seielstad,Xueling Sim,Khanh-Dung H. Nguyen,Terho Lehtimäki,Giuseppe Matullo,Ying Wu,Tom R. Gaunt,N. Charlotte Onland-Moret,Mark E. Cooper,Carl G. P. Platou,Elin Org,Rebecca Hardy,Santosh Dahgam,Jutta Palmen,Veronique Vitart,Peter S. Braund,Peter S. Braund,Tatiana Kuznetsova,Cuno S.P.M. Uiterwaal,Adebowale Adeyemo,Walter Palmas,Harry Campbell,Barbara Ludwig,Maciej Tomaszewski,Maciej Tomaszewski,Ioanna Tzoulaki,Ioanna Tzoulaki,Nicholette D. Palmer,Thor Aspelund,Melissa Garcia,Yen Pei C. Chang,Jeffrey R. O'Connell,Nanette I. Steinle,Diederick E. Grobbee,Dan E. Arking,Sharon L.R. Kardia,Alanna C. Morrison,Dena G. Hernandez,Samer S. Najjar,Samer S. Najjar,Wendy L. McArdle,David Hadley,David Hadley,Morris J. Brown,John M. C. Connell,Aroon D. Hingorani,Ian N. M. Day,Debbie A Lawlor,John Beilby,Robert W. Lawrence,Robert Clarke,Jemma C. Hopewell,Halit Ongen,Albert W. Dreisbach,Yali Li,J. Hunter Young,Joshua C. Bis,Mika Kähönen,Jorma Viikari,Linda S. Adair,Nanette R. Lee,Ming-Huei Chen,Matthias Olden,Cristian Pattaro,Judith A. Hoffman Bolton,Anna Köttgen,Anna Köttgen,Sven Bergmann,Sven Bergmann,Vincent Mooser,Nish Chaturvedi,Timothy M. Frayling,Muhammad Islam,Tazeen H. Jafar,Jeanette Erdmann,Smita R. Kulkarni,Stefan R. Bornstein,Jürgen Grässler,Leif Groop,Benjamin F. Voight,Johannes Kettunen,Philip Howard,Andrew M. Taylor,Simonetta Guarrera,Fulvio Ricceri,Valur Emilsson,Andrew S. Plump,Inês Barroso,Inês Barroso,Kay-Tee Khaw,Alan B. Weder,Steven C. Hunt,Yan V. Sun,Richard N. Bergman,Francis S. Collins,Lori L. Bonnycastle,Laura J. Scott,Heather M. Stringham,Leena Peltonen,Markus Perola,Erkki Vartiainen,Stefan Martin Brand,Jan A. Staessen,Thomas J. Wang,Thomas J. Wang,Paul Burton,Paul Burton,María Soler Artigas,Yanbin Dong,Harold Snieder,Harold Snieder,Xiaoling Wang,Haidong Zhu,Kurt Lohman,Megan E. Rudock,Susan R. Heckbert,Susan R. Heckbert,Nicholas L. Smith,Nicholas L. Smith,Nicholas L. Smith,Kerri L. Wiggins,Ayo P. Doumatey,Daniel Shriner,Gudrun Veldre,Margus Viigimaa,Sanjay Kinra,Dorairaj Prabhakaran,Vikal Tripathy,Carl D. Langefeld,Annika Rosengren,Dag S. Thelle,Anna Maria Corsi,Andrew B. Singleton,Terrence Forrester,Gina Hilton,Colin A. McKenzie,Tunde Salako,Naoharu Iwai,Yoshikuni Kita,Toshio Ogihara,Takayoshi Ohkubo,Takayoshi Ohkubo,Tomonori Okamura,Hirotsugu Ueshima,Satoshi Umemura,Susana Eyheramendy,Thomas Meitinger,H.-Erich Wichmann,Yoon Shin Cho,Hyung Lae Kim,Jong-Young Lee,James Scott,Joban Sehmi,Joban Sehmi,Weihua Zhang,Bo Hedblad,Peter M. Nilsson,George Davey Smith,Andrew Wong,Narisu Narisu,Alena Stančáková,Leslie J. Raffel,Jie Yao,Sekar Kathiresan,Sekar Kathiresan,Christopher J. O'Donnell,Christopher J. O'Donnell,Stephen M. Schwartz,M. Arfan Ikram,W. T. Longstreth,Thomas H. Mosley,Sudha Seshadri,Nick Shrine,Louise V. Wain,Mario A. Morken,Amy J. Swift,Jaana Laitinen,Inga Prokopenko,Inga Prokopenko,Paavo Zitting,Jackie A. Cooper,Steve E. Humphries,John Danesh,Asif Rasheed,Anuj Goel,Anders Hamsten,Hugh Watkins,Stephan J. L. Bakker,Wiek H. van Gilst,C. S. Janipalli,K. Radha Mani,Chittaranjan S. Yajnik,Albert Hofman,Francesco U.S. Mattace-Raso,Ben A. Oostra,Ayse Demirkan,Aaron Isaacs,Fernando Rivadeneira,Edward G. Lakatta,Marco Orrù,Angelo Scuteri,Mika Ala-Korpela,Mika Ala-Korpela,Antti J. Kangas,Leo-Pekka Lyytikäinen,Pasi Soininen,Pasi Soininen,Taru Tukiainen,Taru Tukiainen,Taru Tukiainen,Peter Würtz,Peter Würtz,Peter Würtz,Rick Twee-HeeOng,Rick Twee-HeeOng,Marcus Dörr,Heyo K. Kroemer,Uwe Völker,Henry Völzke,Pilar Galan,Serge Hercberg,Mark Lathrop,Diana Zelenika,Panos Deloukas,Massimo Mangino,Tim D. Spector,Guangju Zhai,James F. Meschia,Mike A. Nalls,Pankaj Sharma,Janoš Terzić,M.V. Kranthi Kumar,Matthew Denniff,Ewa Zukowska-Szczechowska,Lynne E. Wagenknecht,F. Gerald R. Fowkes,Fadi J. Charchar,Peter Schwarz,Caroline Hayward,Xiuqing Guo,Charles N. Rotimi,Michiel L. Bots,Eva Brand,Nilesh J. Samani,Nilesh J. Samani,Ozren Polasek,Philippa J. Talmud,Fredrik Nyberg,Fredrik Nyberg,Diana Kuh,Maris Laan,Kristian Hveem,Lyle J. Palmer,Lyle J. Palmer,Yvonne T. van der Schouw,Juan P. Casas,Karen L. Mohlke,Paolo Vineis,Olli T. Raitakari,Santhi K. Ganesh,Tien Yin Wong,Tien Yin Wong,E. Shyong Tai,Richard S. Cooper,Markku Laakso,Dabeeru C. Rao,Tamara B. Harris,Richard W Morris,Anna F. Dominiczak,Mika Kivimäki,Michael Marmot,Tetsuro Miki,Danish Saleheen,Giriraj R. Chandak,Josef Coresh,Gerjan Navis,Veikko Salomaa,Bok Ghee Han,Xiaofeng Zhu,Jaspal S. Kooner,Jaspal S. Kooner,Olle Melander,Paul M. Ridker,Stefania Bandinelli,Ulf Gyllensten,Alan F. Wright,James F. Wilson,Luigi Ferrucci,Martin Farrall,Jaakko Tuomilehto,Peter P. Pramstaller,Roberto Elosua,Nicole Soranzo,Nicole Soranzo,Eric J.G. Sijbrands,David Altshuler,David Altshuler,Ruth J. F. Loos,Alan R. Shuldiner,Alan R. Shuldiner,Christian Gieger,Pierre Meneton,André G. Uitterlinden,Nicholas J. Wareham,Vilmundur Gudnason,Jerome I. Rotter,Rainer Rettig,Manuela Uda,David P. Strachan,Jacqueline C. M. Witteman,Anna-Liisa Hartikainen,Jacques S. Beckmann,Eric Boerwinkle,Ramachandran S. Vasan,Ramachandran S. Vasan,Michael Boehnke,Martin G. Larson,Martin G. Larson,Marjo-Riitta Järvelin,Marjo-Riitta Järvelin,Marjo-Riitta Järvelin,Bruce M. Psaty,Bruce M. Psaty,Gonçalo R. Abecasis,Aravinda Chakravarti,Paul Elliott,Cornelia M. van Duijn,Christopher Newton-Cheh,Christopher Newton-Cheh,Daniel Levy,Mark J. Caulfield,Toby Johnson +391 more
TL;DR: A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function, and these findings suggest potential novel therapeutic pathways for cardiovascular disease prevention.
Journal ArticleDOI
Multiple Sclerosis: An Immune or Neurodegenerative Disorder?
Bruce D. Trapp,Klaus-Armin Nave +1 more
TL;DR: Data that support neurodegeneration as the major cause of irreversible neurological disability in MS patients are reviewed and it is questioned whether inflammatory demyelination is primary or secondary in the disease process.
Journal ArticleDOI
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Ashley Beecham,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Dionysia K. Xifara,Mary F. Davis,Anu Kemppinen,Chris Cotsapas,Chris Cotsapas,Tejas S. Shah,Chris C. A. Spencer,David R. Booth,An Goris,Annette Bang Oturai,Janna Saarela,Bertrand Fontaine,Bernhard Hemmer,C. Martin,Frauke Zipp,Sandra D'Alfonso,Filippo Martinelli-Boneschi,Bruce V. Taylor,Hanne F. Harbo,Ingrid Kockum,Jan Hillert,Tomas Olsson,Maria Ban,Jorge R. Oksenberg,Rogier Q. Hintzen,Lisa F. Barcellos,Lisa F. Barcellos,Lisa F. Barcellos,Cristina Agliardi,Lars Alfredsson,Mehdi Alizadeh,Carl A. Anderson,Robert Andrews,Helle Bach Søndergaard,Amie Baker,Gavin Band,Sergio E. Baranzini,Nadia Barizzone,Jeffrey C. Barrett,Céline Bellenguez,Laura Bergamaschi,Luisa Bernardinelli,Achim Berthele,Viola Biberacher,Thomas M.C. Binder,Hannah Blackburn,Izaura Lima Bomfim,Paola Brambilla,Simon Broadley,Bruno Brochet,Lou Brundin,Dorothea Buck,Helmut Butzkueven,Helmut Butzkueven,Stacy J. Caillier,William Camu,Wassila Carpentier,Paola Cavalla,Elisabeth Gulowsen Celius,Irene Coman,Giancarlo Comi,Lucia Corrado,Leentje Cosemans,Isabelle Cournu-Rebeix,Bruce A.C. Cree,Daniele Cusi,Vincent Damotte,Gilles Defer,Silvia Delgado,Panos Deloukas,Alessia Di Sapio,Alexander T. Dilthey,Peter Donnelly,Bénédicte Dubois,Martin Duddy,Sarah Edkins,Irina Elovaara,Federica Esposito,Nikos Evangelou,Barnaby Fiddes,Judith Field,Andre Franke,Colin Freeman,Irene Y. Frohlich,Daniela Galimberti,Christian Gieger,Pierre-Antoine Gourraud,Christiane Graetz,Andrew Graham,Verena Grummel,Clara Guaschino,Athena Hadjixenofontos,Hakon Hakonarson,Christopher Halfpenny,Gillian L Hall,Per Hall,Anders Hamsten,James Harley,Timothy Harrower,Clive Hawkins,Garrett Hellenthal,Charles Hillier,Jeremy Hobart,M.-M. Hoshi,Sarah E. Hunt,Maja Jagodic,Ilijas Jelcic,Ilijas Jelcic,Angela Jochim,B. E. Kendall,Allan G. Kermode,Allan G. Kermode,Trevor J. Kilpatrick,Keijo Koivisto,Ioanna Konidari,Thomas Korn,Helena C. Kronsbein,Cordelia Langford,Malin Larsson,Mark Lathrop,Mark Lathrop,Christine Lebrun-Frenay,Jeannette Lechner-Scott,Michelle Lee,Maurizio Leone,Virpi Leppa,Giuseppe Liberatore,Benedicte A. Lie,Christina M. Lill,Christina M. Lill,Magdalena Lindén,Jenny Link,Felix Luessi,Jan Lycke,Fabio Macciardi,Fabio Macciardi,Satu Männistö,Clara P. Manrique,Roland Martin,Roland Martin,Vittorio Martinelli,Deborah F. Mason,Gordon Mazibrada,Cristin McCabe,Inger Lise Mero,Julia Y Mescheriakova,Loukas Moutsianas,Kjell-Morten Myhr,Guy Nagels,Richard Nicholas,Petra Nilsson,Fredrik Piehl,Matti Pirinen,Siân Price,Hong Quach,Mauri Reunanen,Wim Robberecht,Neil Robertson,Mariaemma Rodegher,David Rog,Marco Salvetti,Nathalie Schnetz-Boutaud,Finn Sellebjerg,Rebecca C. Selter,Catherine Schaefer,Sandip Shaunak,Ling Shen,Simon Shields,Volker Siffrin,Mark Slee,Per Soelberg Sørensen,Melissa Sorosina,Mireia Sospedra,Mireia Sospedra,Anne Spurkland,Amy Strange,Emilie Sundqvist,Vincent Thijs,J W Thorpe,Anna Ticca,Pentti J. Tienari,Cornelia M. van Duijn,Elizabeth Visser,Steve Vucic,Helga Westerlind,James S. Wiley,Alastair Wilkins,James F. Wilson,Juliane Winkelmann,John Zajicek,Eva Zindler,Jonathan L. Haines,Margaret A. Pericak-Vance,Adrian J. Ivinson,Graeme J. Stewart,David A. Hafler,David A. Hafler,Stephen L. Hauser,Alastair Compston,Gil McVean,Philip L. De Jager,Philip L. De Jager,Stephen Sawcer,Jacob L. McCauley +206 more
TL;DR: This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
Journal ArticleDOI
Human genetic variation and its contribution to complex traits.
TL;DR: Most common SNPs have now been assessed in genome-wide studies for statistical associations with many complex traits, including many important common diseases, and only a limited amount of the heritable component of any complex trait has been identified.
References
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Journal ArticleDOI
Recommended diagnostic criteria for multiple sclerosis: Guidelines from the International Panel on the Diagnosis of Multiple Sclerosis
W. Ian McDonald,A Compston,Gilles Edan,Donald E. Goodkin,Hans-Peter Hartung,Fred D. Lublin,Henry F. McFarland,Donald W. Paty,Chris H. Polman,Stephen C. Reingold,Magnhild Sandberg-Wollheim,William A. Sibley,Alan J. Thompson,Stanley van den Noort,Brian Y. Weinshenker,Jerry S. Wolinsky +15 more
TL;DR: The revised criteria facilitate the diagnosis of MS in patients with a variety of presentations, including “monosymptomatic” disease suggestive of MS, disease with a typical relapsing‐remitting course, and disease with insidious progression, without clear attacks and remissions.
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A haplotype map of the human genome
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TL;DR: A public database of common variation in the human genome: more than one million single nucleotide polymorphisms for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted.
Journal ArticleDOI
The Future of Genetic Studies of Complex Human Diseases
TL;DR: The identification of the genetic basis of complex human diseases such as schizophrenia and diabetes has proven difficult as mentioned in this paper, and Risch and Merikangas proposed that they can best accomplish this goal by combining the power of the human genome project with association studies.
Journal ArticleDOI
Diagnostic criteria for multiple sclerosis: 2005 revisions to the "McDonald Criteria".
Chris H. Polman,Stephen C. Reingold,Gilles Edan,Massimo Filippi,Hans-Peter Hartung,Ludwig Kappos,Fred D. Lublin,Luanne M. Metz,Henry F. McFarland,Paul O'Connor,Magnhild Sandberg-Wollheim,Alan J. Thompson,Brian G. Weinshenker,Jerry S. Wolinsky +13 more
TL;DR: New evidence and consensus now strengthen the role of these criteria in the multiple sclerosis diagnostic workup to demonstrate dissemination of lesions in time, to clarify the use of spinal cord lesions, and to simplify diagnosis of primary progressive disease.
Journal ArticleDOI
Axonal transection in the lesions of multiple sclerosis.
TL;DR: Transected axons are common in the lesions of multiple sclerosis, and axonal transection may be the pathologic correlate of the irreversible neurologic impairment in this disease.
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