Recent advances and future challenges in the genetics of multiple sclerosis

Frontiers in Neurology

Volumn 5 JUL, Issue , 2014, Pages

  Lill, Christina M ^a,b  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

Autoimmune disease; Epigenetics; Genome wide association study; Heritability; Immunogenetics; Multiple sclerosis; Rare variants

Indexed keywords

ALLELE; COMPLEX FORMATION; COPY NUMBER VARIATION; DISEASE ASSOCIATION; EPIGENETICS; GENE; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; MEDICAL RESEARCH; MULTIPLE SCLEROSIS; NOTE; PATHOGENESIS; PROTEIN PROTEIN INTERACTION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TNFRSF1A GENE;

EID: 84904386052     PISSN: None     EISSN: 16642295     Source Type: Journal    
DOI: 10.3389/fneur.2014.00130     Document Type: Note

References (33)

1. Compston A, Coles A. Multiple sclerosis. Lancet (2008) 372:1502-17. doi: 10.1016/S0140-6736(08)61620-7.
2. Westerlind H, Ramanujam R, Uvehag D, Kuja-Halkola R, Boman M, Bottai M, et al. Modest familial risks for multiple sclerosis: a registry-based study of the population of Sweden. Brain (2014) 137:770-8. doi:10.1093/brain/awt356.
3. International Multiple Sclerosis Genetics Consortium (IMSGC); Bush WS, Sawcer SJ, de Jager PL, Oksenberg JR, McCauley JL, et al. Evidence for polygenic susceptibility to multiple sclerosis-the shape of things to come. Am J Hum Genet (2010) 86:621-5. doi:10.1016/j.ajhg.2010.02.027.
4. Bertrams J, Kuwert E. HL-A antigen frequencies in multiple sclerosis. Significant increase of HL-A3, HL-A10 and W5, and decrease of HL-A12. Eur Neurol (1972) 7:74-8. doi:10.1159/000114414.
5. Naito S, Namerow N, Mickey MR, Terasaki PI. Multiple sclerosis: association with HL-A3. Tissue Antigens (1972) 2:1-4. doi:10.1111/j.1399-0039.1972.tb00111.x.
6. International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2; Sawcer S, Hellenthal G, Pirinen M, Spencer CC, et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 476:214-9. doi:10.1038/nature10251.
7. Teutsch SM, Booth DR, Bennetts BH, Heard RNS, Stewart GJ. Identification of 11 novel and common single nucleotide polymorphisms in the interleukin-7 receptor-alpha gene and their associations with multiple sclerosis. Eur J Hum Genet (2003) 11:509-15. doi:10.1038/sj.ejhg.5200994.
8. Zhang Z, Duvefelt K, Svensson F, Masterman T, Jonasdottir G, Salter H, et al. Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis. Genes Immun (2005) 6:145-52. doi:10.1038/sj.gene.6364171.
9. Gregory SG, Schmidt S, Seth P, Oksenberg JR, Hart J, Prokop A, et al. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet (2007) 39:1083-91. doi:10.1038/ng2103.
10. International Multiple Sclerosis Genetics Consortium (IMSGC); Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, et al. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 45:1353-60. doi:10.1038/ng.2770.
11. Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, et al. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res (2014) 42:D1001-6. doi:10.1093/nar/gkt1229.
12. International Multiple Sclerosis Genetics Consortium; Lill CM, Schjeide BM, Graetz C, Ban M, Alcina A, et al. MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis. Brain (2013) 136:1778-82. doi:10.1093/brain/awt101.
13. Lill CM, Schjeide BM, Graetz C, Liu T, Damotte V, Akkad DA, et al. Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk. J Med Genet (2013) 50:140-3. doi:10.1136/jmedgenet-2012-101411.
14. Lill CM, Bertram L. Towards unveiling the genetics of neurodegenerative diseases. Semin Neurol (2011) 31:531-41. doi:10.1055/s-0031-1299791.
15. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature (2009) 461:747-53. doi:10.1038/nature08494.
16. Yang J, Benyamin B, McEvoy BP, Gordon S, Henders AK, Nyholt DR, et al. Common SNPs explain a large proportion of the heritability for human height. Nat Genet (2010) 42:565-9. doi:10.1038/ng.608.
17. Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, et al. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature (2013) 498:232-5. doi:10.1038/nature12170.
18. Ramagopalan SV, Dyment DA, Cader MZ, Morrison KM, Disanto G, Morahan JM, et al. Rare variants in the CYP27B1 gene are associated with multiple sclerosis. Ann Neurol (2011) 70:881-6. doi:10.1002/ana.22678.
19. Ban M, Caillier S, Mero IL, Myhr KM, Celius EG, Aarseth J, et al. No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis. Ann Neurol (2013) 73:430-2. doi:10.1002/ana.23833.
20. Barizzone N, Pauwels I, Luciano B, Franckaert D, Guerini FR, Cosemans L, et al. No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis. Ann Neurol (2013) 73:433-7. doi:10.1002/ana.23834.
21. Wellcome Trust Case Control Consortium; Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, et al. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 464:713-20. doi:10.1038/nature08979.
22. Petronis A. Epigenetics as a unifying principle in the aetiology of complex traits and diseases. Nature (2010) 465:721-7. doi:10.1038/nature09230.
23. Grossniklaus U, Kelly WG, Ferguson-Smith AC, Pembrey M, Lindquist S. Transgenerational epigenetic inheritance: how important is it? Nat Rev Genet (2013) 14:228-35. doi:10.1038/nrg3435.
24. Ebers GC, Sadovnick AD, Dyment DA, Yee IM, Willer CJ, Risch N, et al. Parent-of-origin effect in multiple sclerosis: observations in half-siblings. Lancet (2004) 363:1773-4. doi:10.1016/S0140-6736(04)16304-6.
25. Hoppenbrouwers IA, Liu F, Aulchenko YS, Ebers GC, Oostra BA, van Duijn CM, et al. Maternal transmission of multiple sclerosis in a Dutch population. Arch Neurol (2008) 65:345-8. doi:10.1001/archneurol.2007.63.
26. Rakyan VK, Down TA, Balding DJ, Beck S. Epigenome-wide association studies for common human diseases. Nat Rev Genet (2011) 12:529-41. doi:10.1038/nrg3000.
27. Ramanujam R, Ramanujam S, Hillert J. Considerations for subgroups and phenocopies in complex disease genetics. PLoS One (2013) 8:e71614. doi:10.1371/journal.pone.0071614.
28. Isobe N, Damotte V, Lo Re V, Ban M, Pappas D, Guillot-Noel L, et al. Genetic burden in multiple sclerosis families. Genes Immun (2013) 14:434-40. doi:10.1038/gene.2013.37.
29. Brynedal B, Wojcik J, Esposito F, Debailleul V, Yaouanq J, Martinelli-Boneschi F, et al. MGAT5 alters the severity of multiple sclerosis. J Neuroimmunol (2010) 220:120-4. doi:10.1016/j.jneuroim.2010.01.003.
30. International Multiple Sclerosis Genetics Consortium. Genome-wide association study of severity in multiple sclerosis. Genes Immun (2011) 12:615-25. doi:10.1038/gene.2011.34.
31. Sawcer S, Franklin RJM, Ban M. Multiple sclerosis genetics. Lancet Neurol (2014) 13(7):700-9. doi:10.1016/S1474-4422(14)70041-9.
32. Zuk O, Hechter E, Sunyaev SR, Lander ES. The mystery of missing heritability: genetic interactions create phantom heritability. Proc Natl Acad Sci U S A (2012) 109:1193-8. doi:10.1073/pnas.1119675109.
33. Gregory AP, Dendrou CA, Attfield KE, Haghikia A, Xifara DK, Butter F, et al. TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis. Nature (2012) 488:508-11. doi:10.1038/nature11307.