The Genetics of Multiple Sclerosis: From 0 to 200 in 50 Years

被引：149

作者：

Baranzini, Sergio E. ^{[1
,2
,3
]}

Oksenberg, Jorge R. ^{[1
,2
]}

机构：

[1] Univ Calif San Francisco, Dept Neurol, Weill Inst Neurosci, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA

[3] Univ Calif San Francisco, Grad Program Bioinformat, San Francisco, CA 94143 USA

来源：

TRENDS IN GENETICS | 2017年 / 33卷 / 12期

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; ENVIRONMENTAL-FACTORS; AFRICAN-AMERICANS; DNA ELEMENTS; RISK; DISEASE; PREVALENCE; EPIDEMIOLOGY; CONCORDANCE;

D O I：

10.1016/j.tig.2017.09.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Multiple sclerosis (MS) is a common autoimmune disease that targets myelin in the central nervous system (CNS). Multiple genome-wide association studies (GWAS) over the past 10 years have uncovered more than 200 loci that independently contribute to disease pathogenesis. As with many other complex diseases, risk of developing MS is driven by multiple common variants whose biological effects are not immediately clear. Here, we present a historical perspective on the progress made in MS genetics and discuss current work geared towards creating a more complete model that accurately represents the genetic landscape of MS susceptibility. Such a model necessarily includes a better understanding of the individual contributions of each common variant to the cellular phenotypes, and interactions with other genes and with the environment. Future genetic studies in MS will likely focus on the role of rare variants and endophenotypes.

引用

页码：960 / 970

页数：11

共 93 条

[1] Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis [J].

Alcina, Antonio ;

Fernandez, Oscar ;

Ramon Gonzalez, Juan ;

Catala-Rabasa, Antonio ;

Fedetz, Maria ;

Ndagire, Dorothy ;

Leyva, Laura ;

Guerrero, Miguel ;

Arnal, Carmen ;

Delgado, Concepcion ;

Lucas, Miguel ;

Izquierdo, Guillermo ;

Matesanz, Fuencisla .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (07) :827-831

[2]

Amato MP, 2017, MULT SCLER

[3] Epidemiology of Multiple Sclerosis: From Risk Factors to Prevention-An Update [J].

Ascherio, Alberto ;

Munger, Kassandra L. .

SEMINARS IN NEUROLOGY, 2016, 36 (02) :103-114

[4] Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 [J].

Bahlo, Melanie ;

Booth, David R. ;

Broadley, Simon A. ;

Brown, Matthew A. ;

Foote, Simon J. ;

Griffiths, Lyn R. ;

Kilpatrick, Trevor J. ;

Lechner-Scott, Jeanette ;

Moscato, Pablo ;

Perreau, Victoria M. ;

Rubio, Justin P. ;

Scott, Rodney J. ;

Stankovich, Jim ;

Stewart, Graeme J. ;

Taylor, Bruce V. ;

Wiley, James ;

Clarke, Glynnis ;

Cox, Mathew B. ;

Csurhes, Peter A. ;

Danoy, Patrick ;

Drysdale, Karen ;

Field, Judith ;

Foote, Simon J. ;

Greer, Judith M. ;

Guru, Preethi ;

Hadler, Johanna ;

McMorran, Brendan J. ;

Jensen, Cathy J. ;

Johnson, Laura J. ;

McCallum, Ruth ;

Merriman, Marilyn ;

Merriman, Tony ;

Pryce, Karen ;

Tajouri, Lotfi ;

Wilkins, Ella J. ;

Browning, Brian L. ;

Browning, Sharon R. ;

Perera, Devindri ;

Butzkueven, Helmut ;

Carroll, William M. ;

Chapman, Caron ;

Kermode, Allan G. ;

Marriott, Mark ;

Mason, Deborah ;

Heard, Robert N. ;

Pender, Michael P. ;

Slee, Mark ;

Tubridy, Niall ;

Willoughby, Ernest .

NATURE GENETICS, 2009, 41 (07) :824-U84

[5] The genetics of autoimmune diseases: a networked perspective [J].

Baranzini, Sergio E. .

CURRENT OPINION IN IMMUNOLOGY, 2009, 21 (06) :596-605

[6] Pathway and network-based analysis of genome-wide association studies in multiple sclerosis [J].

Baranzini, Sergio E. ;

Galwey, Nicholas W. ;

Wang, Joanne ;

Khankhanian, Pouya ;

Lindberg, Raija ;

Pelletier, Daniel ;

Wu, Wen ;

Uitdehaag, Bernard M. J. ;

Kappos, Ludwig ;

Polman, Chris H. ;

Matthews, Paul M. ;

Hauser, Stephen L. ;

Gibson, Rachel A. ;

Oksenberg, Jorge R. ;

Barnes, Michael R. .

HUMAN MOLECULAR GENETICS, 2009, 18 (11) :2078-2090

[7] Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis [J].

Baranzini, Sergio E. ;

Wang, Joanne ;

Gibson, Rachel A. ;

Galwey, Nicholas ;

Naegelin, Yvonne ;

Barkhof, Frederik ;

Radue, Ernst-Wilhelm ;

Lindberg, Raija L. P. ;

Uitdehaag, Bernard M. G. ;

Johnson, Michael R. ;

Angelakopoulou, Aspasia ;

Hall, Leslie ;

Richardson, Jill C. ;

Prinjha, Rab K. ;

Gass, Achim ;

Geurts, Jeroen J. G. ;

Kragt, Jolijn ;

Sombekke, Madeleine ;

Vrenken, Hugo ;

Qualley, Pamela ;

Lincoln, Robin R. ;

Gomez, Refujia ;

Caillier, Stacy J. ;

George, Michaela F. ;

Mousavi, Hourieh ;

Guerrero, Rosa ;

Okuda, Darin T. ;

Cree, Bruce A. C. ;

Green, Ari J. ;

Waubant, Emmanuelle ;

Goodin, Douglas S. ;

Pelletier, Daniel ;

Matthews, Paul M. ;

Hauser, Stephen L. ;

Kappos, Ludwig ;

Polman, Chris H. ;

Oksenberg, Jorge R. .

HUMAN MOLECULAR GENETICS, 2009, 18 (04) :767-778

[8] HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course [J].

Barcellos, LF ;

Oksenberg, JR ;

Begovich, AB ;

Martin, ER ;

Schmidt, S ;

Vittinghoff, E ;

Goodin, DS ;

Pelletier, D ;

Lincoln, RR ;

Bucher, P ;

Swerdlin, A ;

Perick-Vance, MA ;

Haines, JL ;

Hauser, SL .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (03) :710-716

[9] Transfer of Myelin-Reactive Th17 Cells Impairs Endogenous Remyelination in the Central Nervous System of Cuprizone-Fed Mice [J].

Baxi, Emily G. ;

DeBruin, Joseph ;

Tosi, Dominique M. ;

Grishkan, Inna V. ;

Smith, Matthew D. ;

Kirby, Leslie A. ;

Strasburger, Hayley J. ;

Fairchild, Amanda N. ;

Calabresi, Peter A. ;

Gocke, Anne R. .

JOURNAL OF NEUROSCIENCE, 2015, 35 (22) :8626-8639

[10] Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis [J].

Beecham, Ashley H. ;

Patsopoulos, Nikolaos A. ;

Xifara, Dionysia K. ;

Davis, Mary F. ;

Kemppinen, Anu ;

Cotsapas, Chris ;

Shah, Tejas S. ;

Spencer, Chris ;

Booth, David ;

Goris, An ;

Oturai, Annette ;

Saarela, Janna ;

Fontaine, Bertrand ;

Hemmer, Bernhard ;

Martin, Claes ;

Zipp, Frauke ;

D'Alfonso, Sandra ;

Martinelli-Boneschi, Filippo ;

Taylor, Bruce ;

Harbo, Hanne F. ;

Kockum, Ingrid ;

Hillert, Jan ;

Olsson, Tomas ;

Ban, Maria ;

Oksenberg, Jorge R. ;

Hintzen, Rogier ;

Barcellos, Lisa F. ;

Agliardi, Cristina ;

Alfredsson, Lars ;

Alizadeh, Mehdi ;

Anderson, Carl ;

Andrews, Robert ;

Sondergaard, Helle Bach ;

Baker, Amie ;

Band, Gavin ;

Baranzini, Sergio E. ;

Barizzone, Nadia ;

Barrett, Jeffrey ;

Bellenguez, Celine ;

Bergamaschi, Laura ;

Bernardinelli, Luisa ;

Berthele, Achim ;

Biberacher, Viola ;

Binder, Thomas M. C. ;

Blackburn, Hannah ;

Bomfim, Izaura L. ;

Brambilla, Paola ;

Broadley, Simon ;

Brochet, Bruno ;

Brundin, Lou .

NATURE GENETICS, 2013, 45 (11) :1353-+

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