A new era in the genetic analysis of multiple sclerosis

Current Opinion in Neurology

Volumn 19, Issue 3, 2006, Pages 237-241

  Sawcer, Stephen ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Association; Genome screening; Linkage; Multiple sclerosis

Indexed keywords

CLUSTER ANALYSIS; COHORT ANALYSIS; GENE CLUSTER; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; HUMAN; HUMAN GENOME; LINKAGE ANALYSIS; MAJOR HISTOCOMPATIBILITY COMPLEX; MULTIPLE SCLEROSIS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; LINKAGE (GENETICS); LINKAGE DISEQUILIBRIUM; MAJOR HISTOCOMPATIBILITY COMPLEX; MULTIPLE SCLEROSIS;

EID: 33744457667     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.wco.0000227031.39834.31     Document Type: Review

References (80)

1. Eichhorst H. On childhood and hereditary multiple sclerosis [in German]. Virchows Arch 1896; 146:173-193.
2. Compston A, Coles A. Multiple sclerosis. Lancet 2002; 359:1221-1231.
3. Sadovnick AD, Baird PA, Ward RH. Multiple sclerosis: updated risks for relatives. Am J Med Genet 1988; 29:533-541.
4. Robertson NP, Fraser M, Deans J, et al. Age-adjusted recurrence risks for relatives of patients with multiple sclerosis. Brain 1996; 119:449-455.
5. Carton H, Vlietinck R, Debruyne J, et al. Risks of multiple sclerosis in relatives of patients in Flanders, Belgium. J Neurol Neurosurg Psychiatry 1997; 62:329-333.
6. Risch N. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 1990; 46:222-228.
7. Mumford CJ, Wood NW, Kellar-Wood H, et al. The British Isles survey of multiple sclerosis in twins. Neurology 1994; 44:11-15.
8. Willer CJ, Dyment DA, Risch NJ, et al. Twin concordance and sibling recurrence rates in multiple sclerosis. Proc Natl Acad Sci USA 2003; 100:12877-12882.
9. Hansen T, Skytthe A, Stenager E, et al. Concordance for multiple sclerosis in Danish twins: an update of a nationwide study. Mult Scler 2005; 11:504-510. A nationwide twin study in a high-risk population.
10. Ristori G, Cannoni S, Stazi MA, et al. Multiple sclerosis in twins from continental Italy and Sardinia: a nationwide study. Ann Neurol 2006; 59:27-34. A twin study directly comparing concordance rates in high-risk (Sardinia) and medium-risk (Italy) populations.
11. Ebers GC, Sadovnick AD, Dyment DA, et al. Parent-of-origin effect in multiple sclerosis: observations in half-siblings. Lancet 2004; 363:1773-1774.
12. Robertson NP, O'Riordan JI, Chataway J, et al. Offspring recurrence rates and clinical characteristics of conjugal multiple sclerosis. Lancet 1997; 349:1587-1590.
13. Ebers GC, Sadovnick AD, Risch NJ. A genetic basis for familial aggregation in multiple sclerosis. Canadian Collaborative Study Group. Nature 1995; 377:150-151.
14. Dean G, McLoughlin H, Brady R, et al. Multiple sclerosis among immigrants in Greater London. Br Med J 1976; 1:861-864.
15. Kurtzke JF. Geography in multiple sclerosis. J Neurol 1977; 215:1-26.
16. Hammond SR, McLeod JG, Millingen KS, et al. The epidemiology of multiple sclerosis in three Australian cities: Perth, Newcastle and Hobart. Brain 1988; 111:1-25.
17. French Research Group on Multiple Sclerosis. Multiple sclerosis in 54 twin-ships: concordance rate is independent of zygosity. French Research Group on Multiple Sclerosis. Ann Neurol 1992; 32:724-727.
18. Ponsonby AL, van der Mei I, Dwyer T, et al. Exposure to infant siblings during early life and risk of multiple sclerosis. JAMA 2005; 293:463-469.
19. Sadovnick AD, Yee IM, Ebers GC. Multiple sclerosis and birth order: a longitudinal cohort study. Lancet Neurol 2005; 4:611-617. A comprehensive analysis of birth-order effects in a large cohort of families. The data indicate no evidence to support the 'hygiene hypothesis' but suggest that the incidence of multiple sclerosis may be increasing.
20. Willer CJ, Dyment DA, Sadovnick AD, et al. Timing of birth and risk of multiple sclerosis: population based study. BMJ 2005; 330:120. A retrospective cohort study suggesting that environmental factors may act during gestation.
21. Giordano M, Momigliano-Richiardi P. Maternal effect in multiple sclerosis. Lancet 2004; 363:1748-1749.
22. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273:1516-1517.
23. Sawcer S, Jones HB, Feakes R, et al. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 1996; 13:464-468.
24. Haines JL, Ter-Minassian M, Bazyk A, et al. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet 1996; 13:469-471.
25. Ebers GC, Kukay K, Bulman DE, et al. A full genome search in multiple sclerosis. Nat Genet 1996; 13:472-476.
26. Kuokkanen S, Gschwend M, Rioux JD, et al. Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet 1997; 61:1379-1387.
27. Broadley S, Sawcer S, D'Alfonso S, et al. A genome screen for multiple sclerosis in Italian families. Genes Immun 2001; 2:205-210.
28. Coraddu F, Sawcer S, D'Alfonso S, et al. A genome screen for multiple sclerosis in Sardinian multiplex families. Eur J Hum Genet 2001; 9:621-626.
29. Akesson E, Oturai A, Berg J, et al. A genome-wide screen for linkage in Nordic sib-pairs with multiple sclerosis. Genes Immun 2002; 3:279-285.
30. Ban M, Stewart GJ, Bennetts BH, et al. A genome screen for linkage in Australian sibling-pairs with multiple sclerosis. Genes Immun 2002; 3:464-469.
31. Eraksoy M, Kurtuncu M, Akman-Demir G, et al. A whole genome screen for linkage in Turkish multiple sclerosis. J Neuroimmunol 2003; 143:17-24.
32. Hensiek AE, Roxburgh R, Smilie B, et al. Updated results of the United Kingdom linkage-based genome screen in multiple sclerosis. J Neuroimmunol 2003; 143:25-30.
33. Kenealy SJ, Babron MC, Bradford Y, et al. A second-generation genomic screen for multiple sclerosis. Am J Hum Genet 2004; 75:1070-1078.
34. GAMES and the Transatlantic Multiple Sclerosis Genetics Collaborative. A meta-analysis of whole genome linkage screens in multiple sclerosis. J Neuroimmunol 2003; 143:39-46.
35. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995; 11:241-247.
36. International Multiple Sclerosis Genetics Consortium (IMSGC). A high-density screen for linkage in multiple sclerosis. Am J Hum Genet 2005; 77:454-467 The largest and most powerful linkage screen ever performed in multiple sclerosis. The results from this study provide invaluable guidance concerning experimental design in future studies.
37. Terwilliger JD, Haghighi F, Hiekkalinna TS, Goring HH. A biased assessment of the use of SNPs in human complex traits. Curr Opin Genet Dev 2002; 12:726-734.
38. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003; 19:149-150.
39. Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature 2001; 409:860-921.
40. Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science 2001; 291:1304-1351.
41. International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004; 431:931-945.
42. International HapMap Consortium. The International HapMap Project. Nature 2003; 426:789-796.
43. International HapMap Consortium. A haplotype map of the human genome. Nature 2005; 437:1299-1320. The most up-to-date and comprehensive account of human genetic variation currently available. This article is indispensable.
44. Lander ES. The new genomics: global views of biology. Science 1996; 274:536-539.
45. Kruglyak L, Nickerson DA. Variation is the spice of life. Nat Genet 2001; 27:234-236.
46. Reich DE, Gabriel SB, Altshuler D. Quality and completeness of SNP databases. Nat Genet 2003; 33:457-458.
47. Wang WY, Barratt BJ, Clayton DG, Todd JA. Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet 2005; 6:109-118. A well-written account describing current thinking as it relates to complex genetics and the logic (or otherwise) behind currently planned screening experiments.
48. Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet 2001; 17:502-510.
49. Pritchard JK, Cox NJ. The allelic architecture of human disease genes: common disease-common variant ... or not? Hum Mol Genet 2002; 11:2417-2423.
50. Pritchard JK. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69:124-137.
51. Smith DJ, Lusis AJ. The allelic structure of common disease. Hum Mol Genet 2002; 11:2455-2461.
52. Blangero J. Localization and identification of human quantitative trait loci: king harvest has surely come. Curr Opin Genet Dev 2004; 14:233-240.
53. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005; 6:95-108. An articulate description of the theoretical framework behind indirect association screening.
54. Daly MJ, Rioux JD, Schaffner SF, et al. High-resolution haplotype structure in the human genome. Nat Genet 2001; 29:229-232.
55. ENCODE Project Consortium. The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 2004; 306:636-640.
56. Jorde LB. Linkage disequilibrium as a gene-mapping tool. Am J Hum Genet 1995; 56:11-14.
57. Devlin B, Risch N. A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 1995; 29:311-322.
58. Johnson GC, Esposito L, Barratt BJ, et al. Haplotype tagging for the identification of common disease genes. Nat Genet 2001; 29:233-237.
59. Kruglyak L. Power tools for human genetics. Nat Genet 2005; 37:1299-1300. A succinct commentary giving an easy-to-understand description of the HapMap project. Potential limitations of indirect screening are described.
60. Barcellos LF, Klitz W, Field LL, et al. Association mapping of disease loci, by use of a pooled DNA genomic screen. Am J Hum Genet 1997; 61:734-747.
61. Sawcer S, Maranian M, Setakis E, et al. A whole genome screen for linkage disequilibrium in multiple sclerosis confirms disease associations with regions previously linked to susceptibility. Brain 2002; 125:1337-1347.
62. Cardon LR, Bell JI. Association study designs for complex diseases. Nat Rev Genet 2001; 2:91-99.
63. Tabor HK, Risch NJ, Myers RM. Opinion: Candidate-gene approaches for studying complex genetic traits: practical considerations. Nat Rev Genet 2002; 3:391-397.
64. Wacholder S, Chanock S, Garcia-Closas M, et al. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J Natl Cancer Inst 2004; 96:434-442.
65. Jersild C, Svejgaard A, Fog T. HL-A antigens and multiple sclerosis. Lancet 1972; 1:1240-1241.
66. Olerup O, Hillert J. HLA class II-associated genetic susceptibility in multiple sclerosis: a critical evaluation. Tissue Antigens 1991; 38:1-15.
67. Stewart GJ, Teutsch SM, Castle M, et al. HLA-DR, -DQA1 and -DQB1 associations in Australian multiple sclerosis patients. Eur J Immunogenet 1997; 24:81-92.
68. Marrosu MG, Murru MR, Costa G, et al. DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. Hum Mol Genet 1998; 7:1235-1237.
69. Barcellos LF, Oksenberg JR, Begovich AB, et al. HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. Am J Hum Genet 2003; 72:710-716.
70. Dyment DA, Herrera BM, Cader MZ, et al. Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance. Hum Mol Genet 2005; 14:2019-2026.
71. Horton R, Wilming L, Rand V, et al. Gene map of the extended human MHC. Nat Rev Genet 2004; 5:889-899.
72. Stewart CA, Horton R, Allcock RJ, et al. Complete MHC haplotype sequencing for common disease gene mapping. Genome Res 2004; 14:1176-1187.
73. Oksenberg JR, Barcellos LF, Cree BA, et al. Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet 2004; 74:160-167.
74. Fogdell-Hahn A, Ligers A, Gronning M, et al. Multiple sclerosis: a modifying influence of HLA class I genes in an HLA class II associated autoimmune disease. Tissue Antigens 2000; 55:140-148.
75. Harbo HF, Lie BA, Sawcer S, et al. Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis. Tissue Antigens 2004; 63:237-247.
76. Lincoln MR, Montpetit A, Cader MZ, et al. A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Nat Genet 2005; 37:1108-1112.
77. Miretti MM, Walsh EC, Ke X, et al. A high-resolution linkage- disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet 2005; 76:634-646. The most detailed account of variation in the MHC region currently available.
78. Reich D, Patterson N, Jager PL, et al. A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibility. Nat Genet 2005; 37:1113-1118. The first ever whole-genome screen for admixture in an autoimmune disease. This complex topic is well described and the results have major implications for multiple sclerosis genetics.
79. Patterson N, Hattangadi N, Lane B, et al. Methods for high-density admixture mapping of disease genes. Am J Hum Genet 2004; 74:979-1000.
80. Smith MW, Patterson N, Lautenberger JA, et al. A high-density admixture map for disease gene discovery in African Americans. Am J Hum Genet 2004; 74:1001-1013.