Genetics of multiple sclerosis: swimming in an ocean of data

被引:33
作者
Baranzini, Sergio E. [1 ]
Nickles, Dorothee [1 ]
机构
[1] Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA
关键词
bioinformatics; genetics; multiple sclerosis; RISK-FACTOR; SMOKING; SUSCEPTIBILITY; GENOME;
D O I
10.1097/WCO.0b013e3283533a93
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Purpose of review Major advances in the genetics of multiple sclerosis (MS) have been reported in 2011. These include studies in gene mapping, functional characterization of previously associated genes, and the relationship between genes and the environment. While particularly true for gene discovery, each of these efforts requires substantial statistics and computational resources for adequate analysis. This review describes the major advances in the genetics of MS with a slight emphasis on data handling and analysis. Recent findings Articles discussed include a new genome-wide association study (GWAS) with almost 10 000 cases (a collaboration between the Wellcome Trust and the international MS Genetics Consortium) that identified new susceptibility loci, taking the total number of risk alleles to more than 50. An article describing the use of next-generation sequencing to identify a rare mutation in CYP27B1 in a MS family is also discussed. Moreover, a summary of recent reports describing functional studies of MS-associated genes as well as the latest research on the interactions between genes and the environment is provided. Summary This review provides a concise summary of the most relevant studies in the genetics of MS in the past year. We raise awareness about analytical resources to successfully analyze the massive datasets characteristic of today's genetic studies.
引用
收藏
页码:239 / 245
页数:7
相关论文
共 20 条
[1]   Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis [J].
Babron, Marie-Claude ;
Perdry, Herve ;
Handel, Adam E. ;
Ramagopalan, Sreeram V. ;
Damotte, Vincent ;
Fontaine, Bertrand ;
Mueller-Myhsok, Bertram ;
Ebers, George C. ;
Clerget-Darpoux, Francoise .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (03) :321-325
[2]   Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis [J].
Baranzini, Sergio E. ;
Mudge, Joann ;
van Velkinburgh, Jennifer C. ;
Khankhanian, Pouya ;
Khrebtukova, Irina ;
Miller, Neil A. ;
Zhang, Lu ;
Farmer, Andrew D. ;
Bell, Callum J. ;
Kim, Ryan W. ;
May, Gregory D. ;
Woodward, Jimmy E. ;
Caillier, Stacy J. ;
McElroy, Joseph P. ;
Gomez, Refujia ;
Pando, Marcelo J. ;
Clendenen, Leonda E. ;
Ganusova, Elena E. ;
Schilkey, Faye D. ;
Ramaraj, Thiruvarangan ;
Khan, Omar A. ;
Huntley, Jim J. ;
Luo, Shujun ;
Kwok, Pui-yan ;
Wu, Thomas D. ;
Schroth, Gary P. ;
Oksenberg, Jorge R. ;
Hauser, Stephen L. ;
Kingsmore, Stephen F. .
NATURE, 2010, 464 (7293) :1351-U6
[3]   The genetics of autoimmune diseases: a networked perspective [J].
Baranzini, Sergio E. .
CURRENT OPINION IN IMMUNOLOGY, 2009, 21 (06) :596-605
[4]  
Biran I, 2004, NEUROLOGY, V63, P763, DOI 10.1212/WNL.63.4.763-a
[5]   Genome-wide association study of severity in multiple sclerosis [J].
Briggs, Farren B. S. ;
Shao, Xiaorong ;
Goldstein, Benjamin A. ;
Oksenberg, Jorge R. ;
Barcellos, Lisa F. ;
De Jager, Philip L. .
GENES AND IMMUNITY, 2011, 12 (08) :615-625
[6]   Pervasive Sharing of Genetic Effects in Autoimmune Disease [J].
Cotsapas, Chris ;
Voight, Benjamin F. ;
Rossin, Elizabeth ;
Lage, Kasper ;
Neale, Benjamin M. ;
Wallace, Chris ;
Abecasis, Goncalo R. ;
Barrett, Jeffrey C. ;
Behrens, Timothy ;
Cho, Judy ;
De Jager, Philip L. ;
Elder, James T. ;
Graham, Robert R. ;
Gregersen, Peter ;
Klareskog, Lars ;
Siminovitch, Katherine A. ;
van Heel, David A. ;
Wijmenga, Cisca ;
Worthington, Jane ;
Todd, John A. ;
Hafler, David A. ;
Rich, Stephen S. ;
Daly, Mark J. .
PLOS GENETICS, 2011, 7 (08)
[7]   Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility [J].
Couturier, Nicolas ;
Bucciarelli, Florence ;
Nurtdinov, Ramil N. ;
Debouverie, Marc ;
Lebrun-Frenay, Christine ;
Defer, Gilles ;
Moreau, Thibault ;
Confavreux, Christian ;
Vukusic, Sandra ;
Cournu-Rebeix, Isabelle ;
Goertsches, Robert H. ;
Zettl, Uwe K. ;
Comabella, Manuel ;
Montalban, Xavier ;
Rieckmann, Peter ;
Weber, Frank ;
Mueller-Myhsok, Bertram ;
Edan, Gilles ;
Fontaine, Bertrand ;
Mars, Lennart T. ;
Saoudi, Abdelhadi ;
Oksenberg, Jorge R. ;
Clanet, Michel ;
Liblau, Roland S. ;
Brassat, David .
BRAIN, 2011, 134 :693-703
[8]   Aggregation of Multiple Sclerosis Genetic Risk Variants in Multiple and Single Case Families [J].
Gourraud, Pierre-Antoine ;
McElroy, Joseph P. ;
Caillier, Stacy J. ;
Johnson, Britt A. ;
Santaniello, Adam ;
Hauser, Stephen L. ;
Oksenberg, Jorge R. .
ANNALS OF NEUROLOGY, 2011, 69 (01) :65-74
[9]   Smoking and two human leukocyte antigen genes interact to increase the risk for multiple sclerosis [J].
Hedstrom, Anna Karin ;
Sundqvist, Emilie ;
Baarnhielm, Maria ;
Nordin, Nina ;
Hillert, Jan ;
Kockum, Ingrid ;
Olsson, Tomas ;
Alfredsson, Lars .
BRAIN, 2011, 134 :653-664
[10]   Cigarette smoking and incidence of multiple sclerosis [J].
Hernán, MA ;
Olek, MJ ;
Ascherio, A .
AMERICAN JOURNAL OF EPIDEMIOLOGY, 2001, 154 (01) :69-74