The genetics of multiple sclerosis: An update 2010

Oksenberg, 2008, The genetics of multiple sclerosis: SNPs to pathways to pathogenesis, Nat Rev Genet, 9, 516, 10.1038/nrg2395

Pugliatti, 2002, The worldwide prevalence of multiple sclerosis, Clin Neurol Neurosurg, 104, 182, 10.1016/S0303-8467(02)00036-7

Roxburgh, 2005, Multiple sclerosis severity score: using disability and disease duration to rate disease severity, Neurology, 64, 1144, 10.1212/01.WNL.0000156155.19270.F8

Pugliatti, 2006, The epidemiology of multiple sclerosis in Europe, Eur J Neurol, 13, 700, 10.1111/j.1468-1331.2006.01342.x

Hawkes, 2009, Twin studies and the heritability of MS: a conclusion, Mult Scler, 15, 661, 10.1177/1352458509104592

Risch, 1996, The future of genetic studies of complex human diseases, Science, 273, 1516, 10.1126/science.273.5281.1516

Fernald, 2005, Mapping gene activity in complex disorders: integration of expression and genomic scans for multiple sclerosis, J Neuroimmunol, 167, 157, 10.1016/j.jneuroim.2005.06.032

Haines, 1998, Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The multiple sclerosis genetics group, Hum Mol Genet, 7, 1229, 10.1093/hmg/7.8.1229

Hoffjan, 2003, Association studies for asthma and atopic diseases: a comprehensive review of the literature, Respir Res, 4, 14, 10.1186/1465-9921-4-14

Hindorff, 2009, Potential etiologic and functional implications of genome-wide association loci for human diseases and traits, Proc Natl Acad Sci U S A, 106, 9362, 10.1073/pnas.0903103106

McCarthy, 2008, Genome-wide association studies: potential next steps on a genetic journey, Hum Mol Genet, 17, R156, 10.1093/hmg/ddn289

Manolio, 2009, Finding the missing heritability of complex diseases, Nature, 461, 747, 10.1038/nature08494

Hafler, 2007, Risk alleles for multiple sclerosis identified by a genomewide study, N Engl J Med, 357, 851, 10.1056/NEJMoa073493

Gregory, 2007, Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis, Nat Genet, 39, 1083, 10.1038/ng2103

Lundmark, 2007, Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis, Nat Genet, 39, 1108, 10.1038/ng2106

Weber, 2008, IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations, Genes Immun, 9, 259, 10.1038/gene.2008.14

O’Doherty, 2008, IL7RA polymorphisms and susceptibility to multiple sclerosis, N Engl J Med, 358, 753, 10.1056/NEJMc0707553

Alcina, 2008, The T244I variant of the interleukin-7 receptor-alpha gene and multiple sclerosis, Tissue Antigens, 72, 158, 10.1111/j.1399-0039.2008.01075.x

Akkad, 2009, Variation in the IL7RA and IL2RA genes in German multiple sclerosis patients, J Autoimmun, 32, 110, 10.1016/j.jaut.2009.01.002

Johnson, 2009, Multiple sclerosis susceptibility alleles in African Americans, Genes Immun

Zuvich, 2010, Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility, Hum Genet, 127, 525, 10.1007/s00439-010-0789-4

Sasson, 2006, The IL-7/IL-7 receptor axis: understanding its central role in T-cell homeostasis and the challenges facing its utilization as a novel therapy, Curr Drug Targets, 7, 1571, 10.2174/138945006779025365

Rubio, 2008, Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians, Genes Immun, 9, 624, 10.1038/gene.2008.59

Perera, 2009, Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus, J Neuroimmunol, 211, 105, 10.1016/j.jneuroim.2009.03.010

Alcina, 2009, IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D), PLoS One, 4, e4137, 10.1371/journal.pone.0004137

Qu, 2009, The type I diabetes association of the IL2RA locus, Genes Immun, 10, S42, 10.1038/gene.2009.90

Kurreeman, 2009, Association of IL2RA and IL2RB with rheumatoid arthritis: a replication study in a Dutch population, Ann Rheum Dis, 68, 1789, 10.1136/ard.2008.106393

Hinks, 2009, Association of the IL2RA/CD25 gene with juvenile idiopathic arthritis, Arthritis Rheum, 60, 251, 10.1002/art.24187

Brand, 2007, Association of the interleukin-2 receptor alpha (IL-2Ralpha)/CD25 gene region with Graves’ disease using a multilocus test and tag SNPs, Clin Endocrinol (Oxf), 66, 508, 10.1111/j.1365-2265.2007.02762.x

Schippling, 2008, Spotlight on anti-CD25: daclizumab in MS, Int MS J, 15, 94

De Jager, 2009, The role of the CD58 locus in multiple sclerosis, Proc Natl Acad Sci U S A, 106, 5264, 10.1073/pnas.0813310106

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat Genet 2009;41:824–828.

Hoppenbrouwers, 2009, Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis, J Hum Genet, 54, 676, 10.1038/jhg.2009.96

Hakonarson, 2007, A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene, Nature, 448, 591, 10.1038/nature06010

Todd, 2007, Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes, Nat Genet, 39, 857, 10.1038/ng2068

Zoledziewska, 2009, Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia, Genes Immun, 10, 15, 10.1038/gene.2008.84

The expanding genetic overlap between multiple sclerosis and type I diabetes. Genes Immun 2009;10:11–14.

Marquez, 2009, Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn’s disease patients, Eur J Hum Genet, 17, 1304, 10.1038/ejhg.2009.50

Skinningsrud, 2009, A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis, Ann Rheum Dis

Awata, 2009, Association of type 1 diabetes with two Loci on 12q13 and 16p13 and the influence coexisting thyroid autoimmunity in Japanese, J Clin Endocrinol Metab, 94, 231, 10.1210/jc.2008-0718

Skinningsrud, 2008, Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency, J Clin Endocrinol Metab, 93, 3310, 10.1210/jc.2008-0821

Hafler, 2008, CD226 Gly307Ser association with multiple autoimmune diseases, Genes Immun, 10, 5, 10.1038/gene.2008.82

Wieczorek, 2009, Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener’s granulomatosis and confirmation for multiple sclerosis in German patients, Genes Immun, 10, 591, 10.1038/gene.2009.44

Dardalhon, 2005, CD226 is specifically expressed on the surface of Th1 cells and regulates their expansion and effector functions, J Immunol, 175, 1558, 10.4049/jimmunol.175.3.1558

Zhernakova, 2009, Detecting shared pathogenesis from the shared genetics of immune-related diseases, Nat Rev Genet, 10, 43, 10.1038/nrg2489

Sloka, 2002, Observations on recent studies showing increased co-occurrence of autoimmune diseases, J Autoimmun, 18, 251, 10.1006/jaut.2002.0588

Sloka, 2005, Co-occurrence of autoimmune thyroid disease in a multiple sclerosis cohort, J Autoimmune Dis, 2, 9, 10.1186/1740-2557-2-9

Rioux, 2009, Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases, Proc Natl Acad Sci U S A, 106, 18680, 10.1073/pnas.0909307106

Lettre, 2008, Autoimmune diseases: insights from genome-wide association studies, Hum Mol Genet, 17, R116, 10.1093/hmg/ddn246

Baranzini, 2009, The genetics of autoimmune diseases: a networked perspective, Curr Opin Immunol, 21, 596, 10.1016/j.coi.2009.09.014

Miller, 2008, Translation towards personalized medicine in multiple sclerosis, J Neurol Sci, 274, 68, 10.1016/j.jns.2008.07.028

O’Doherty, 2007, Pharmacogenomics of Type I interferon therapy: a survey of response-modifying genes, Cytokine Growth Factor Rev, 18, 211, 10.1016/j.cytogfr.2007.04.012

Byun, 2008, Genome-wide pharmacogenomic analysis of the response to interferon beta therapy in multiple sclerosis, Arch Neurol, 65, 337, 10.1001/archneurol.2008.47

Cenit, 2009, Glypican 5 is an interferon-beta response gene: a replication study, Mult Scler, 15, 913, 10.1177/1352458509106509

Comabella, 2009, Genome-wide scan of 500,000 single-nucleotide polymorphisms among responders and nonresponders to interferon beta therapy in multiple sclerosis, Arch Neurol, 66, 972, 10.1001/archneurol.2009.150

Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci. Hum Mol Genet 2010;19:953–962.

Baranzini, 2009, Pathway and network-based analysis of genome-wide association studies in multiple sclerosis, Hum Mol Genet, 18, 2078, 10.1093/hmg/ddp120

Munro, 2009, Current and future applications of transcriptomics for discovery in CNS disease and injury, Neurosignals, 17, 311, 10.1159/000231897

Mardis, 2008, The impact of next-generation sequencing technology on genetics, Trends Genet, 24, 133, 10.1016/j.tig.2007.12.007

Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med;362:1181–1191.

Roach, 2010, Analysis of genetic inheritance in a family quartet by whole-genome sequencing, Science, 328, 636, 10.1126/science.1186802

McGuire, 2010, Personal genome research: what should the participant be told?, Trends Genet, 26, 199, 10.1016/j.tig.2009.12.007

De Jager, 2009, Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score, Lancet Neurol, 8, 1111, 10.1016/S1474-4422(09)70275-3

Corvol, 2008, Abrogation of T cell quiescence characterizes patients at high risk for multiple sclerosis after the initial neurological event, Proc Natl Acad Sci U S A, 105, 11839, 10.1073/pnas.0805065105

Comabella, 2008, Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms, PLoS One, 3, e3490, 10.1371/journal.pone.0003490

Aulchenko, 2008, Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis, Nat Genet, 40, 1402, 10.1038/ng.251

Jakkula E, Leppa V, Sulonen AM, Varilo T, Kallio S, Kemppinen A, et al. Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. Am J Hum Genet;86:285–291.

De Jager, 2009, Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci, Nat Genet, 41, 776, 10.1038/ng.401

Santiago, 2008, Study of the association between the CAPSL-IL7R locus and type 1 diabetes, Diabetologia, 51, 1653, 10.1007/s00125-008-1070-4

O’Doherty, 2009, IL7RA polymorphisms and chronic inflammatory arthropathies, Tissue Antigens, 74, 429, 10.1111/j.1399-0039.2009.01342.x

Raychaudhuri, 2009, Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk, Nat Genet, 41, 1313, 10.1038/ng.479

Douroudis, 2009, The CD226 gene in susceptibility of type 1 diabetes, Tissue Antigens, 74, 417, 10.1111/j.1399-0039.2009.01320.x

Lappalainen, 2008, Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population, Inflamm Bowel Dis, 14, 1118, 10.1002/ibd.20431

Lu, 2007, TNF receptor I polymorphism is associated with persistent palindromic rheumatism, Scand J Rheumatol, 36, 278, 10.1080/03009740701286805