The genetics of multiple sclerosis: Principles, background and updated results of the United Kingdom systematic genome screen

Brain

Volumn 121, Issue 10, 1998, Pages 1869-1887

  Chataway, Jeremy ^a   Feakes, Robert ^a   Coraddu, Francesca ^a   Gray, Julia ^a   Deans, Jackie ^a   Fraser, Mary ^a   Robertson, Neil ^a   Broadley, Simon ^a   Jones, Hywel ^b   Clayton, David ^b   Goodfellow, Peter ^a   Sawcer, Stephen ^a   Compston, Alastair ^a,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b MRC BIOSTATISTICS UNIT   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Genome screen; Major histocompatibility complex; Multiple sclerosis; Susceptibility genes

Indexed keywords

HLA DR ANTIGEN;

ALLELE; ARTICLE; CHROMOSOME 1; CHROMOSOME 14Q; CHROMOSOME 17Q; CHROMOSOME 22Q; CHROMOSOME 3P; CHROMOSOME 6P; CHROMOSOME 7P; FAMILY STUDY; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOME; HUMAN; HUMAN GENETICS; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; MULTIPLE SCLEROSIS; PHENOTYPE; PRIORITY JOURNAL; SIBLING; UNITED KINGDOM; X CHROMOSOME;

GENETIC SCREENING; GENOME, HUMAN; GREAT BRITAIN; HISTOCOMPATIBILITY ANTIGENS CLASS II; HUMANS; LINKAGE (GENETICS); MULTIPLE SCLEROSIS; PEDIGREE;

EID: 17444436401     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/121.10.1869     Document Type: Article

References (97)

1. Beall SS, Biddison WE, McFarlin DE, McFarland H, Hood LE. Susceptibility for multiple sclerosis is determined, in part, by inheritance of a 175-kb region of the TcR V beta locus and HLA class II genes. J Neuroimmunol 1993; 45: 53-60.
2. Blackwelder WC, Elston RC. A comparison of sib-pair linkage tests for disease susceptibility loci [published erratum appears in Genet Epidemiol 1986; 3: 369]. Genet Epidemiol 1985; 2: 85-97.
3. Blackwood DH, He L, Morris SW, McLean A, Whitton C, Thomson M, et al. A locus for bipolar affective disorder on chromosome 4p. Nat Genet 1996; 12: 427-30.
4. Bulman DE, Armstrong H, Ebers GC. Allele frequencies of the third component of complement (C3) in MS patients. J Neurol Neurosurg Psychiatry 1991a; 54: 554-5.
5. Bulman DE, Sadovnick AD, Ebers GC. Age of onset in siblings concordant for multiple sclerosis. Brain 1991b; 114: 937-50.
6. Charmley P, Beall SS, Concannon P, Hood L, Gatti RA. Further localization of a multiple sclerosis susceptibility gene on chromosome 7q using a new T-cell receptor β chain DNA polymorphism. J Neuroimmunol 1991; 32: 231-40.
7. Comuzzie AG, Hixson JE, Almasy L, Mitchell BD, Mahaney MC, Dyer TD, et al. A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. Nat Genet 1997; 15: 273-6.
8. Daniels SE, Bhattacharrya S, James A, Leaves NI, Young A, Hill MR, et al. A genome-wide search for quantitative trait loci underlying asthma. Nature 1996; 383: 247-50.
9. Davies JL, Cucca F, Goy JV, Atta ZA, Merriman ME, Wilson A, et al. Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes. Hum Mol Genet 1996; 5: 1071-4.
10. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE et al. A genome-wide search for human type 1 diabetes susceptibility genes [see comments]. Nature 1994; 371: 130-6. Comment in: Nature 1996; 371: 104-5.
11. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE et al. A genome-wide search for human type 1 diabetes susceptibility genes [see comments]. Nature 1994; 371: 130-6. Comment in: Nature 1996; 371: 104-5.
12. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5,264 micro satellites [see comments]. Nature 1996; 380: 152-4. Comment in: Nature 1996: 380: 111.
13. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5,264 micro satellites [see comments]. Nature 1996; 380: 152-4. Comment in: Nature 1996: 380: 111.
14. Diehl SR, Ziegle J, Buck GA, Reynolds TR, Weber JL. Automated genotyping of human DNA polymorphisms [abstract]. Am J Hum Genet 1990; 47 (3 Suppl): A177.
15. Don RH, Cox PT, Wainwright BJ, Baker K, Mattick JS. 'Touchdown' PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res 1991; 19: 4008.
16. Doolittle TH, Myers RH, Lehrich JR, Birnbaum G, Sheremata W, Franklin GM, et al. Multiple sclerosis sibling pairs: clustered onset and familial predisposition. Neurology 1990; 40: 1546-52.
17. Ebers GC, Sadovnick AD, Risch NJ, the Canadian Collaborative Study Group. A genetic basis for familial aggregation in multiple sclerosis [see comments]. Nature 1995; 377: 150-1. Comment in: Nature; 377: 105-6.
18. Ebers GC, Sadovnick AD, Risch NJ, the Canadian Collaborative Study Group. A genetic basis for familial aggregation in multiple sclerosis [see comments]. Nature 1995; 377: 150-1. Comment in: Nature; 377: 105-6.
19. Ebers GC, Kukay K, Bulman DE, Sadovnick AD, Rice G, Anderson C, et al. A full genome search in multiple sclerosis [see comments]. Nat Genet 1996; 13: 472-6. Comment in: Nat Genet 1996; 13: 377-8.
20. Ebers GC, Kukay K, Bulman DE, Sadovnick AD, Rice G, Anderson C, et al. A full genome search in multiple sclerosis [see comments]. Nat Genet 1996; 13: 472-6. Comment in: Nat Genet 1996; 13: 377-8.
21. Elston RC. Designs for the global search of the human genome by linkage analysis. Hamilton (New Zealand): 1992.
22. Eoli M, Pandolfo M, Milanese C, Gasparini P, Salmaggi A, Zeviani M. The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients, J Neurol 1994a; 241: 615-9.
23. Eoli M, Wood NW, Kellar-Wood HF, Holmans P, Clayton D, Compston DA. No linkage between multiple sclerosis and the T cell receptor alpha chain locus. J Neurol Sci 1994b; 124: 32-7.
24. Ginns EI, Ott J, Egeland JA, Allen CR, Fann CS, Pauls DL, et al. A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish. Nat Genet 1996; 12: 431-5.
25. Graham CA, Kirk CW, Nevin NC, Droogan AG, Hawkins SA, McMillan SA, et al. Lack of association between myelin basic protein gene micro satellite and multiple sclerosis [letter]. Lancet 1993; 341: 1596.
26. Haines JL, Ter-Minassian M, Bazyk A, Gusella JF, Kim DJ, Terwedow H, et al. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatibility complex [see comments]. Nat Genet 1996; 13: 469-71. Comment in Nat Genet 1996; 13: 377-8.
27. Haines JL, Ter-Minassian M, Bazyk A, Gusella JF, Kim DJ, Terwedow H, et al. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatibility complex [see comments]. Nat Genet 1996; 13: 469-71. Comment in Nat Genet 1996; 13: 377-8.
28. Hashimoto LL, Mak TW, Ebers GC. T cell receptor alpha chain polymorphisms in multiple sclerosis. J Neuroimmunol 1992; 40: 41-8.
29. Hashimoto L, Walter MA, Cox DW, Ebers GC. Immunoglobulin heavy chain variable region polymorphisms and multiple sclerosis susceptibility. J Neuroimmunol 1993; 44: 77-83.
30. Hauser ER, Boehnke M, Guo S-W, Risch N. Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations. Genet Epidemiol 1996; 13: 117-37.
31. Hillert J. Immunoglobulin gamma constant gene region polymorphisms in multiple sclerosis. J Neuroimmunol 1993; 43: 9-14.
32. Hillert J, Leng C, Olerup O. T-cell receptor alpha chain germline gene polymorphisms in multiple sclerosis [see comments]. Neurology 1992; 42: 80-4. Comment in: Neurology 1992; 42: 466-7.
33. Hillert J, Leng C, Olerup O. T-cell receptor alpha chain germline gene polymorphisms in multiple sclerosis [see comments]. Neurology 1992; 42: 80-4. Comment in: Neurology 1992; 42: 466-7.
34. Holmans P. Asymptotic properties of affected-sib-pair linkage analysis. Am J Hum Genet 1993; 52: 362-74.
35. Holmans P, Clayton D. Efficiency of typing unaffected relatives in an affected-sib-pair linkage study with single-locus and multiple tightly linked markers. Am J Hum Genet 1995; 57: 1221-32.
36. Holmans P, Craddock N. Efficient strategies for genome scanning using maximum-likelihood affected-sib-pair analysis. Am J Hum Genet 1997; 60: 657-66.
37. Kellar-Wood HF, Powis SH, Gray J, Compston DA. MHC-encoded TAPI and TAP2 dimorphisms in multiple sclerosis. Tissue Antigens 1994a; 43: 129-32.
38. Kellar-Wood H, Robertson N, Govan GG, Compston DA, Harding AE. Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 1994b; 36: 109-12.
39. Kruglyak L, Lander ES. Complete multipoint sib-pair analysis of qualitative and quantitative traits [see comments]. Am J Hum Genet 1995; 57: 439-54. Comment in: Am J Hum Genet 1997; 60: 740-2, Comment in: Am J Hum Genet 1997; 61: 452-4.
40. Kruglyak L, Lander ES. Complete multipoint sib-pair analysis of qualitative and quantitative traits [see comments]. Am J Hum Genet 1995; 57: 439-54. Comment in: Am J Hum Genet 1997; 60: 740-2, Comment in: Am J Hum Genet 1997; 61: 452-4.
41. Kruglyak L, Lander ES. Complete multipoint sib-pair analysis of qualitative and quantitative traits [see comments]. Am J Hum Genet 1995; 57: 439-54. Comment in: Am J Hum Genet 1997; 60: 740-2, Comment in: Am J Hum Genet 1997; 61: 452-4.
42. Kuokkanen S, Sundvall M, Terwilliger JD, Tienari PJ, Wikstrom J, Holmdahl R, et al. A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2 [see comments]. Nat Genet 1996; 13: 477-80. Comment in: Nat Genet 1996; 13: 377-8.
43. Kuokkanen S, Sundvall M, Terwilliger JD, Tienari PJ, Wikstrom J, Holmdahl R, et al. A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2 [see comments]. Nat Genet 1996; 13: 477-80. Comment in: Nat Genet 1996; 13: 377-8.
44. Kuokkanen S, Gschwend M, Rioux JD, Daly MJ, Terwilliger JD, Tienari PJ, et al. Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet 1997; 61: 1379-87.
45. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results [see comments]. Nat Genet 1995; 11: 241-7.
46. Comment in: Nat Genet 1995; 11: 223-4,
47. Comment in Nat Genet 1996; 14: 132-3.
48. Lynch SG, Rose JW, Petajan JH, Stauffer D, Kamerath C, Leppert M. Discordance of T-cell receptor beta-chain genes in familial multiple sclerosis. Ann Neurol 1991; 30: 402-10.
49. Mahtani MM, Widen E, Lehto M, Thomas J, McCarthy M, Brayer J, et al. Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families [see comments]. Nat Genet 1996; 14: 90-4. Comment in: Nat Genet 1997; 17: 148.
50. Mahtani MM, Widen E, Lehto M, Thomas J, McCarthy M, Brayer J, et al. Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families [see comments]. Nat Genet 1996; 14: 90-4. Comment in: Nat Genet 1997; 17: 148.
51. Matthews D, Fry L, Powles A, Weber J, McCarthy M, Fisher E, et al. Evidence that a locus for familial psoriasis maps to chromosome 4q. Nat Genet 1996; 14: 231-3.
52. Moises HW, Yang L, Kristbjarnarson H, Wiese C, Byerley W, Macciardi F, et al. An international two-stage genome-wide search for schizophrenia susceptibility genes. Nat Genet 1995; 11: 321-4.
53. Mumford CJ, Wood NW, Kellar-Wood HF, Thorpe JW, Miller DH, Compston DA. The British Isles survey of multiple sclerosis in twins. Neurology 1994; 44: 11-5.
54. Nakamura Y, Leppert M, O'Connell P, Wolff R, Holm T, Culver M, et al. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 1987; 235: 1616-22.
55. Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, et al. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22,3. Nat Genet 1996; 13: 101-4.
56. Olerup O, Hillert J. HLA class II-associated genetic susceptibility in multiple sclerosis: a critical evaluation. [Review]. Tissue Antigens 1991; 38: 1-15.
57. Olerup O, Zetterquist H. HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation [see comments]. Tissue Antigens 1992; 39: 225-35. Comment in: Tissue Antigens 1993; 41: 55-6
58. Olerup O, Zetterquist H. HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation [see comments]. Tissue Antigens 1992; 39: 225-35. Comment in: Tissue Antigens 1993; 41: 55-6
59. Olerup O, Aldener A, Fogdell A. HLA-DQB1 and -DQA1 typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours. Tissue Antigens 1993; 41: 119-34.
60. Ott J. Analysis of human genetic linkage. Baltimore (MD): Johns Hopkins University Press; 1991.
61. Poser CM, Paty DW, Scheinberg L, McDonald WI, Davis FA, Ebers GC, et al. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 1983; 13: 227-31.
62. Pratt RTC, Compston ND, McAlpine D. The familial incidence of disseminated sclerosis and its significance. Brain 1951; 74: 191-232.
63. Reed PW, Davies JL, Copeman JB, Bennett ST, Palmer SM, Pritchard LE, et al. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping [see comments]. Nat Genet 1994; 7: 390-5.
64. Comment in: Nat Genet 1994; 7: 343-4.
65. Rice JP, Goate A, Williams JT, Bierut L, Dorr D, Wu W, et al. Initial genome scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 1, 6, 8, 10, and 12. Am J Med Genet 1997; 74: 247-53.
66. Risch N, Botstein D. A manic depressive history [news]. Nat Genet 1996; 12: 351-3.
67. Robertson N, Deans J, Fraser M, Compston DA. Multiple sclerosis in the north Cambridgeshire districts of East Anglia. J Neurol Neurosurg Psychiatry 1995; 59: 71-6.
68. Robertson NP, Fraser M, Deans J, Clayton D, Walker N, Compston DA. Age-adjusted recurrence risks for relatives of patients with multiple sclerosis. Brain 1996; 119: 449-55.
69. Robertson NP, O'Riordan JI, Chataway J, Kingsley DP, Miller DH, Clayton D, et al. Offspring recurrence rates and clinical characteristics of conjugal multiple sclerosis. Lancet 1997; 349: 1587-90.
70. Rose J, Gerken S, Lynch S, Pisani P, Varvil T, Otterud B, et al. Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene [see comments]. Lancet 1993; 341: 1179-81. Comment in: Lancet 1993; 341: 1595.
71. Rose J, Gerken S, Lynch S, Pisani P, Varvil T, Otterud B, et al. Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene [see comments]. Lancet 1993; 341: 1179-81. Comment in: Lancet 1993; 341: 1595.
72. Roth MP, Nogueira L, Coppin H, Clanet M, Clayton J, Cambon-Thomsen A. Tumor necrosis factor polymorphism in multiple sclerosis: no additional association independent of HLA. J Neuroimmunol 1994; 51: 93-9.
73. Saar K, Chrzanowska KH, Stumm M, Jung M, Nurnberg G, Wienker TF, et al. The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am J Hum Genet 1997; 60: 605-10.
74. Sadovnick AD, Armstrong H, Rice GP, Bulman D, Hashimoto L, Paty DW, et al. A population-based study of multiple sclerosis in twins: update. Ann Neurol 1993; 33: 281-5.
75. Sadovnick AD, Ebers GC, Dyment DA, Risch NJ, the Canadian Collaborative Study Group. Evidence for genetic basis of multiple sclerosis. Lancet 1996; 347: 1728-30.
76. Sandberg-Wollheim M, Ciusani E, Salmaggi A, Pociot F. An evaluation of tumor necrosis factor microsatellite alleles in genetic susceptibility to multiple sclerosis. Mult Scler 1995; 1: 181-5.
77. Satsangi J, Parkes M, Louis E, Hashimoto L, Kato N, Welsh K, et al. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet 1996; 14: 199-202.
78. Sawcer S, Jones HB, Feakes R, Gray J, Smaldon N, Chataway J, et al. A genome screen in multiple sclerosis reveals susceptibility loci on chromosomes 6p21 and 17q22 [see comments]. Nat Genet 1996; 13: 464-8.
79. Comment in: Nat Genet 1996; 13: 377-8.
80. Sawcer S, Goodfellow PN, Compston DA. The genetic analysis of multiple sclerosis. Trends Genet 1997a; 13: 234-9.
81. Sawcer S, Jones HB, Judge D, Visser F, Compston DA, Goodfellow PN, et al. Empirical genomewide significance levels established by whole genome simulations. Genet Epidemiol 1997b; 14: 223-9.
82. Seboun E, Robinson MA, Doolittle TH, Ciulla TA, Kindt TJ, Hauser SL. A susceptibility locus for multiple sclerosis is linked to the T cell receptor beta chain complex. Cell 1989; 57: 1095-100.
83. Smith JR, Freije D, Carpten JD, Gronberg H, Xu J, Isaacs SD, et al. Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search [see comments]. Science 1996; 274: 1371-4.
84. Comment in: Science 1996; 274: 1301.
85. Stine OC, McMahon FJ, Chen L, Xu J, Meyer DA, MacKinnon DF, et al. Initial genome screen for bipolar disorder in the NIMH genetics initiative pedigrees: chromosomes 2, 11, 13, 14, and X. Am J Med Genet 1997; 74: 263-9.
86. Suarez BK, Rice J, Reich T. The generalized sib pair IBD distribution: its use in the detection of linkage. Ann Hum Genet 1978; 42: 87-94.
87. Suarez BK, Hampe CL, Van-Eerdewegh P. Genetic approaches to mental disorders. Washington (DC): American Psychiatric Press; 1994.
88. Tienari PJ, Wikstrom J, Sajantila A, Palo J, Peltonen L. Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene [see comments]. Lancet 1992; 340: 987-91. Comment in: Lancet 1993; 341: 56.
89. Tienari PJ, Wikstrom J, Sajantila A, Palo J, Peltonen L. Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene [see comments]. Lancet 1992; 340: 987-91. Comment in: Lancet 1993; 341: 56.
90. Walter MA, Gibson WT, Ebers GC, Cox DW. Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region. J Clin Invest 1991; 87: 1266-73.
91. Wansen K, Pastinen T, Kuokkanen S, Wikstrom J, Palo J, Peltonen L, et al. Immune system genes in multiple sclerosis: genetic association and linkage analyses on TCR beta, IGH, IFN-gamma and IL-1ra/IL-1 beta loci. I Neuroimmunol 1997; 79: 29-36.
92. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989; 44: 388-96.
93. Wood NW, Holmans P, Clayton D, Robertson N, Compston DA. No linkage or association between multiple sclerosis and the myelin basic protein gene in affected sibling pairs. J Neurol Neurosurg Psychiatry 1994; 57: 1191-4.
94. Wood NW, Sawcer SJ, Kellar-Wood HF, Holmans P, Clayton D, Robertson N, et al. Susceptibility to multiple sclerosis and the immunoglobulin heavy chain variable region. J Neurol 1995a; 242: 677-82.
95. Wood NW, Sawcer SJ, Kellar-Wood HF, Holmans P, Clayton D, Robertson N, et al. The T-cell receptor beta locus and susceptibility to multiple sclerosis. Neurology 1995b; 45: 1859-63.
96. Yu JS, Pandey JP, Massacesi L, Lincoln R, Usuku R, Seboun E, et al. Segregation of immunoglobulin heavy chain constant region genes in multiple sclerosis sibling pairs. J Neuroimmunol 1993; 42: 113-6.
97. Ziegle JS, Su Y, Corcoran KP, Nie L, Mayrand PE, Hoff LB, et al. Application of automated DNA sizing technology for genotyping microsatellite loci. Genomics 1992; 14: 1026-31.