Susceptibility to relapsing-progressive multiple sclerosis is associated with inheritance of genes linked to the variable region of the TcR β locus: Use of affected family-based controls

American Journal of Human Genetics

Volumn 62, Issue 2, 1998, Pages 373-385

  Hockertz, Michael K ^a   Paty, Donald W ^a   Beall, Steven S ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HLA ANTIGEN CLASS 2; HLA DR ANTIGEN; T LYMPHOCYTE RECEPTOR BETA CHAIN;

ALLELE; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DISEASE COURSE; FAMILY STUDY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; RELAPSE; T LYMPHOCYTE RECEPTOR GENE;

EID: 0031911063     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301700     Document Type: Article

References (71)

1. Beall SS, Biddison WE, McFarlin DE, McFarland HF, Hood LE (1993) Susceptibility for multiple sclerosis is determined, in part, by inheritance of a 175 Kb region of the TcR beta chain locus in conjunction with HLA class II genes. J Neuroimmunol 45:53-60
2. Beall SS, Concannon P, Biddison WE, McFarland H, Hood L, McFarlin DE (1987a) Analysis of the germline V beta and V alpha genes in patients with multiple sclerosis. Paper presented at the 16th annual meeting of the UCLA Symposia on Molecular and Cellular Biology: The T-cell receptor, Keystone, CO, April 26-May 1.
3. Beall SS, Concannon P, Charmley P, McFarland HF, Gatti RA, Hood LE, McFarlin DE, et al (1989) The germline repertoire of T cell receptor beta-chain genes in patients with chronic progressive multiple sclerosis. J Neuroimmunol 21:59-66
4. Beall SS, Hockertz MK (1993) Association of class II HLA genes and T-cell receptor V beta genes with susceptibility to multiple sclerosis. Paper presented at the 43d annual meeting of The American Society of Human Genetics, New Orleans, October 5-9
5. Beall S, Hockertz M, Studney D, Paty D (1996) Use of genotypic-phenotypic correlations within CHIAARRA and COSTAR to determine liability to develop multiple sclerosis and its response to drug treatment: preliminary report. Paper presented at the 31st annual meeting of the Canadian Congress of Neurological Sciences, London, Ontario, June 25-29
6. Beall S, Hockertz M, Thomson G (1995) Susceptibility for multiple sclerosis is positively associated with recessive inheritance of a gene linked to the DR2-DQ beta 1b haplotype in the HLA class II locus: use of affected family-based controls. Paper presented at the 47th annual meeting of the American Academy of Neurology, Seattle, May 6-13
7. Beall SS, Lawrence JV, Bradley DA, Mattson DH, Singer DS, Biddison WE (1987b) Beta-chain gene rearrangements and V beta gene usage in DPw2-specific T cells. J Immunol 139: 1320-1325
8. Bell JI, Lathrop M (1996) Multiple loci for multiple sclerosis. Nat Genet 13:377-378
9. Bidwell JL, Bidwell EA, Laundy GJ, Klouda PT, Bradley BA (1987) Allogenotypes defined by short DQ alpha and DQ beta cDNA probes correlate with and define splits of HLA-DQ serological specificities. Mol Immunol 24:513-522
10. Charmley P, Beall SS, Concannon P, Hood LE, Gatti RA (1991) Further localization of a multiple sclerosis susceptibility gene on chromosome 7q using a new T-cell receptor beta-chain DNA polymorphism. J Neuroimmunol 32:231-240
11. Charmley P, Concannon P (1993) Polymorphism and phylogeny of dinucleotide repeats in human T-cell receptor Vβ6 genes. Immunogenetics 38:92-97
12. Cochran WG (1954) Some methods for strengthening the common chi-square tests. Biometrics 10:417-451
13. Concannon P, Gatti RA, Hood LE (1987) Human T cell receptor Vβ gene polymorphism. J Exp Med 165:1130-1140
14. Cox NJ, Mela AP, Zmijewski CM, Spielman RS (1988) HLA-DR typing "at the DNA level": RFLPs and subtypes detected with a DRβ cDNA probe. Am J Hum Genet 43:954-963
15. Crow JF (1986) Genes in populations. In: Basic concepts in population, quantitative, and evolutionary genetics. WH Freeman, New York, pp 1-13
16. Dal Canto MC, Melvold RW, Kim BS, Miller SD (1995) Two models of multiple sclerosis: experimental allergic encephalomyelitis (EAE) and Theiler's murine encephalomyelitis virus (TMEV) infection: a pathological and immunological comparison. Microsc Res Tech 32:215-229
17. Droogan AG, Kirk CW, Hawkins SA, McMillan SA, Nevin NC, Graham CA (1996) T-cell receptor alpha, beta, gamma, and delta chain gene microsatellites show no association with multiple sclerosis. Neurology 47:1049-1052
18. Ebers G (1994) Genetics and multiple sclerosis: an overview. Ann Neurol 36 Suppl 1:S12-S14
19. Ebers G, Bulman D, Sadovnick A, Paty D, Warren S, Hader W, Murray T, et al (1986) A population-based study of multiple sclerosis in twins. N Engl J Med 315:1638-1642
20. Ebers G, Kukay K, Bulman DE, Sadovnick AD, Rice G, Anderson C, Armstrong H, et al (1996) A full genome search in multiple sclerosis. Nat Genet 13:472-476
21. Ebers G, Sadovnick A (1994) Association studies in multiple sclerosis. J Neuroimmunol 53:117-122
22. Epplen C, Jackel S, Santos EJM, D'Souza M, Poehlau D, Dotzauer B, Sindern E, et al (1997) Genetic predisposition to multiple sclerosis as revealed by immunoprinting. Ann Neurol 41:341-352
23. Falconer DS (1989) Threshold characters. In: Introduction to quantitative genetics. Longman Scientific and Technical, New York, pp 300-312
24. Falk C, Rubinstein P (1987) Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 51:227-233
25. Field LL, Stephure DK, McArthur RG (1991) Interaction between T-cell receptor beta chain and immunoglobulin heavy chain region genes in susceptibility to insulin-dependent diabetes mellitus. Am J Hum Genet 49:627-634
26. Fugger L, Sandberg-Wollheim M, Morling N, Ryder LP, Svejgaard A (1990) The germline repertoire of T-cell receptor beta chain genes in patients with relapsing/remitting multiple sclerosis or optic neuritis. Immunogenetics 31:278-280
27. Goverman J, Woods A, Larson L, Weiner LP, Hood L, Zaller DM (1993) Transgenic mice that express a myelin basic protein-specific T cell receptor develop spontaneous autoimmunity. Cell 72:551-560
28. Haegert DG, Marrosu MG (1994) Genetic susceptibility to multiple sclerosis. Ann Neurol 36 Suppl 2:S204-S210
29. Haines JL, Ter-Minassian M, Bazyk A, Gusella JF, Kim DJ, Terwedow H, Pericak-Vance MA, et al (1996) A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. Nat Genet 13: 469-471
30. Hauser SL (1995) T-cell receptor genes: germline polymorphisms and genetic susceptibility to demyelinating diseases. Ann NY Acad Sci 756:233-240
31. Hillert J (1994) Human leukocyte antigen studies in multiple sclerosis. Ann Neurol 36 Suppl 1:S15-S17
32. Hillert J, Leng C, Olerup O (1991) No association with germline T cell receptor beta-chain gene alleles or haplotypes in Swedish patients with multiple sclerosis. J Neuroimmunol 31:141-147
33. Hockertz M, Paty D, Beall S (1996) Susceptibility to relapsing progressive multiple sclerosis is associated with inheritance of a gene linked to the variable region of the T-cell receptor beta chain locus. Paper presented at the 31st annual meeting of the Canadian Congress of Neurological Sciences, London, Ontario, June 25-29
34. Hodge SE (1993) Linkage analysis versus association analysis: distinguishing between two models that explain disease-marker associations. Am J Hum Genet 53:367-384
35. Horne C, Keown PA (1993) Rapid DNA typing for class II HLA antigens: subtyping of DRw52-associated DRB1 alleles. Tissue Antigens 41:243-248
36. Ingelfinger JA, Mosteller F, Thibodeau LA, Ware JH (1983) What are p values? In: Biostatistics in clinical medicine. MacMillan, New York, pp 160-176
37. Kellar-Wood HF, Wood NW, Holmans P, Clayton D, Robertson N, Compston DAS (1995) Multiple sclerosis and the HLA-D region: linkage and association studies. J Neuroimmunol 58:183-190
38. Khoury MJ (1994) Case-parental control method in the search for disease-susceptibility genes. Am J Hum Genet 55: 414-415
39. Lander E, Schork N (1994) Genetic dissection of complex traits. Science 265:2037-2048
40. Lynch SG, Rose JW, Petajan JH, Stauffer D, Kamerath C, Leppert M (1991) Discordance of T-cell receptor beta chain genes in familial multiple sclerosis. Ann Neurol 30:402-410
41. Mahtani MM, Widen E, Lehto M, Thomas J, McCarthy M, Brayer J, Bryant B, et al (1996) Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet 14:90-94
42. Martinez-Naves E, Victoria-Gutierrez M, Uria DF, Lopez-Larrea C (1993) The germline repertoire of T cell receptor beta-chain genes in multiple sclerosis patients from Spain. J Neuroimmunol 47:9-14
43. Melvold RW, Jokinen DM, Knobler RL, Lipton HL (1987) Variations in genetic control of susceptibility to Theiler's murine encephalomyelitis virus (TMEV) induced demyelinating disease. I. Differences between susceptible SJL/J and resistant Balb/c strains map near the T cell beta-chain constant gene on chromosome 6. J Immunol 138:1429-1433
44. Olerup O, Hillert J (1991) HLA class II-associated genetic susceptibility in multiple sclerosis: a critical evaluation. Tissue Antigens 38:1-15
45. Paty D, Studney D, Redekop K, Lublin F (1994) MS COSTAR: a computerized patient record adapted for clinical research purposes. Ann Neurol 36 Suppl 1:S134-S135
46. Payami H, Joe S, Farid NR, Stenszky V, Cheah SH, Yeo PPB, Chan JS, et al (1989) Relative predispositional effects (RPEs) of marker alleles with disease: HLA-DR alleles and Graves disease. Am J Hum Genet 45:541-546
47. Perl A, Divincenzo JP, Gergely P, Condemi JJ, Abraham GN (1989) Detection and mapping of polymorphic Kpn 1 alleles in the human T-cell receptor constant beta-2 locus. Immunology 67:135-138
48. Poser CM, Paty DW, Scheinberg L, McDonald WI, Davis F, Ebers GC, Johnson KP, et al (1983) New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 13:227-231
49. Redekop WK (1995) Prognosis in multiple sclerosis: the predictors and prediction of specific functional impairments. PhD thesis, University of British Columbia, Vancouver
50. Risch N (1987) Assessing the role of HLA-linked and unlinked determinants of disease. Am J Hum Genet 40:1-14
51. Risch N, Merikangas K (1997) Genetic analysis of complex diseases. Science 275:1327-1330
52. Robinson MA, Kindt TJ (1985) Segregation of polymorphic T-cell receptor genes in human families. Proc Natl Acad Sci USA 82:3804-3808
53. Rodriguez M, Nabozny GH, Thiemann RL, David CS (1994) Influence of deletion of T cell receptor V beta genes on the Theiler's virus model of multiple sclerosis. Autoimmunity 19:221-230
54. Rodriguez M, Patick AK, Pease LR, David CS (1992) Role of T cell receptor V beta genes in Theiler's virus-induced demyelination of mice. J Immunol 148:921-927
55. Rowen L, Koop BF, Hood L (1996) The complete 685-kilobase DNA sequence of the human β T cell receptor locus. Science 272:1755-1762
56. Sadovnick AD (1994) Genetics of multiple sclerosis in British Columbia and throughout Canada. Ann Neurol 36 Suppl 1:S18-S21
57. Sadovnick A, Armstrong H, Rice G, Bulman D, Hashimoto L, Paty D, Hashimoto S, et al (1993) A population-based study of multiple sclerosis in twins: update. Ann Neurol 33: 281-285
58. Sawcer S, Jones HB, Feakes R, Gray J, Smaldon N, Chataway J, Robertson N, et al (1996) A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 13:464-468
59. Schaid DJ, Sommer SS (1993) Genotype relative risks: methods for design and analysis of candidate-gene association studies. Am J Hum Genet 53:1114-1126
60. Seboun E, Robinson MA, Doolittle TH, Ciulla TA, Kindt TJ, Hauser SL (1989) A susceptibility locus for multiple sclerosis is linked to the T cell receptor beta chain complex. Cell 57: 1095-1100
61. Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516
62. Suarez BK, Hampe CL (1994) Linkage and association. Am J Hum Genet 54:554-559
63. Thomson G (1988) HLA disease associations: models for insulin dependent diabetes mellitus and the study of complex human genetic disorders. Annu Rev Genet 22:31-50
64. Thomson G (1991) Theoretical modelling and population epidemiology of complex genetic diseases. In: Farid NR (ed) The immunogenetics of autoimmune diseases. CRC Press, Boston, pp 195-196
65. Thomson G (1995) Mapping disease genes: family-based association studies. Am J Hum Genet 57:487-498
66. Thomson G, Robinson W, Kuhner M, Klitz W (1989) HLA and insulin gene associations with IDDM. Genet Epidemiol 6:155-160
67. Tiwari J, Terasaki P (1985) Multiple sclerosis. In: HLA and disease associations. Springer-Verlag, New York, pp 152-167
68. Vandevyver C, Philippaerts L, Ghabanbasani Z, Medaer R, Carton H, Cassiman J-J, Raus J (1994) HLA and T-cell receptor polymorphisms in Belgian multiple sclerosis patients: no evidence for disease association with the T-cell receptor. J Neuroimmunol 52:25-32
69. Wei S, Charmley P, Birchfield RI, Concannon P (1995) Human T-cell receptor V β gene polymorphism and multiple sclerosis. Am J Hum Genet 56:963-969
70. Weinshenker BG, Bass B, Rice GPA, Noseworthy J, Carriere W, Baskerville J, Ebers GC (1989) The natural history of multiple sclerosis: a geographically based study. I. Clinical course and disability. Brain 112:133-146
71. Wood NW, Sawcer SJ, Kellar-Wood HF, Holmans P, Clayton D, Robertson N, Compston DAS (1995) The T-cell receptor beta locus and susceptibility to multiple sclerosis. Neurology 45:1859-1863