Genotype-phenotype correlations in multiple sclerosis: HLA genes influence disease severity inferred by 1HMR spectroscopy and MRI measures

Brain

Volumn 132, Issue 1, 2009, Pages 250-259

  Okuda, D T ^a   Srinivasan, R ^b   Oksenberg, J R ^a   Goodin, D S ^a   Baranzini, S E ^a   Beheshtian, A ^a   Waubant, E ^a   Zamvil, S S ^a   Leppert, D ^c   Qualley, P ^a   Lincoln, R ^a   Gomez, R ^a   Caillier, S ^a   George, M ^a   Wang, J ^a   Nelson, S J ^b   Cree, B A C ^a   Hauser, S L ^a   Pelletier, D ^a,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

^d UCSF Multiple Sclerosis Center   (United States)

Author keywords

Brain atrophy; Cognition; HLA; Multiple sclerosis; Spectroscopy

Indexed keywords

BIOLOGICAL MARKER; N ACETYLASPARTIC ACID;

ADULT; AGED; ARTICLE; BRAIN DAMAGE; BRAIN SIZE; CHROMOSOME ABERRATION; CLINICAL TRIAL; COGNITION; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; DRB1 1501 GENE; FEMALE; GENE; GENOTYPE PHENOTYPE CORRELATION; HLA SYSTEM; HMR SPECTROSCOPY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MULTIPLE SCLEROSIS; NERVE CELL DEGENERATION; NERVE FIBER; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PACED AUDITORY SERIAL ADDITION TEST; PATIENT MONITORING; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SPECTROSCOPY; TASK PERFORMANCE; TISSUE LEVEL; WHITE MATTER;

EID: 58849146101     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn301     Document Type: Article

References (53)

1. Allegretta M, Nicklas JA, Sriram S, Albertini RJ. T cells responsive to myelin basic protein in patients with multiple sclerosis. Science 1990; 247: 718-21.
2. Barcellos LF, Oksenberg JR, Green AJ, Bucher P, Rimmler JB, Schmidt S, et al. Genetic basis for clinical expression in multiple sclerosis. Brain 2002; 125: 150-8.
3. Barcellos LF, Oksenberg JR, Begovich AB, Martin ER, Schmidt S, Vittinghoff E, et al. HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. Am J Hum Genet 2003; 72: 710-6.
4. Barcellos LF, Sawcer S, Ramsay PP, Baranzini SE, Thomson G, Briggs F, et al. Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet 2006; 15: 2813-24.
5. 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.
6. Birken DL, Oldendorf WH. N-acetyl-L-aspartic acid: a literature review of a compound prominent in 1H-NMR spectroscopic studies of brain. Neurosci Biobehav Rev 1989; 13: 23-31.
7. Blum D, Yonelinas AP, Luks T, Newitt D, Oh J, Lu Y, et al. Dissociating perceptual and conceptual implicit memory in multiple sclerosis patients. Brain Cogn 2002; 50: 51-61.
8. Box GEP, Cox DR. An analysis of transformations. J Roy Stat Soc 1964; B-26: 211-52.
9. Brassat D, Salemi G, Barcellos LF, McNeill G, Proia P, Hauser SL, et al. The HLA locus and multiple sclerosis in Sicily. Neurology 2005; 64: 361-3.
10. Charlton RA, McIntyre DJ, Howe FA, Morris RG, Markus HS. The relationship between white matter brain metabolites and cognition in normal aging: the GENIE study. Brain Res 2007; 1164: 108-16.
11. Corvol J-C, Pelletier D, Henry R, Caillier SJ, Wang J, Pappas D, et al. Abrogation of T cell quiescence characterizes patients at high risk for multiple sclerosis after the initial neurological event. Proc Natl Acad Sci USA 2008; 105: 11839-44.
12. Ebers GC, Kukay K, Bulman DE, Sadovnick AD, Rice G, Anderson C, et al. A full genome search in multiple sclerosis. Nat Genet 1996; 13: 472-6.
13. Fischer JS, Rudick RA, Cutter GR, Reingold SC. The multiple sclerosis functional composite measure (MSFC): an integrated approach to MS clinical outcome assessment. National MS society clinical outcomes assessment task force. Mult Scler 1999; 5: 244-50.
14. Fusco C, Andreone V, Coppola G, Luongo V, Guerini F, Pace E, et al. HLA-DRB1*1501 and response to copolymer-1 therapy in relapsing-remitting multiple sclerosis. Neurology 2001; 57: 1976-79.
15. Fu L, Matthews PM, De Stefano N, Worsley KJ, Narayanan S, Francis GS, et al. Imaging axonal damage of normal-appearing white matter in multiple sclerosis. Brain 1998; 121: 103-13.
16. Govaerts A, Gony J, Martin-Mondiere C, Poirier JC, Schmid M, Schuller E, et al. HLA and multiple sclerosis: population and families study. Tissue Antigens 1985; 25: 187-99.
17. Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, et al. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 2007; 357: 851-62.
18. Haines JL, Terwedow HA, Burgess K, Pericak-Vance MA, Rimmler JB, Martin ER, et al. Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The multiple sclerosis genetics group. Hum Mol Genet 1998; 7: 1229-34.
19. Hauser SL, Oksenberg JR, Lincoln R, Garovoy J, Beck RW, Cole SR, et al. Interaction between HLA-DR2 and abnormal brain MRI in optic neuritis and early MS. Optic neuritis study group. Neurology 2000; 54: 1859-61.
20. Hetherington HP, Pan JW, Mason GF, Adams D, Vaughn MJ, Twieg DB, et al. Quantitative 1H spectroscopic imaging of human brain at 4.1 T using image segmentation. Magn Reson Med 1996; 36: 21-9.
21. Houtchens MK, Benedict RH, Killiany R, Sharma J, Jaisani Z, Singh B, et al. Thalamic atrophy and cognition in multiple sclerosis. Neurology 2007; 69: 1213-23.
22. Kantarci OH, de Andrade M, Weinshenker BG. Identifying disease modifying genes in multiple sclerosis. J Neuroimmunol 2002; 123: 144-59.
23. Kurtzke JF. Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS). Neurology 1983; 33: 1444-52.
24. Lorentzen JC, Issazadeh S, Storch M, Mustafa MI, Lassman H, Linington C, et al. Protracted, relapsing and demyelinating experimental autoimmune encephalomyelitis in DA rats immunized with syngeneic spinal cord and incomplete Freund. J Neuroimmunol 1995; 63: 193-205.
25. Marrosu MG, Lai M, Cocco E, Loi V, Spinicci G, Pischedda MP, et al. Genetic factors and the founder effect explain familial MS in Sardinia. Neurology 2002; 58: 283-8.
26. McDonald WI, Compston A, Edan G, Goodkin D, Hartung HP, Lublin FD, et al. Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 2001; 50: 121-7.
27. Noworolski SM, Nelson SJ, Henry RG, Day MR, Wald LL, Star-Lack J, et al. High spatial resolution 1H-MRSI and segmented MRI of cortical gray matter and subcortical white matter in three regions of the human brain. Magn Reson Med 1999; 41: 21-9.
28. Oh J, Henry RG, Genain C, Nelson SJ, Pelletier D. Mechanisms of normal appearing corpus callosum injury related to pericallosal T1 lesions in multiple sclerosis using directional diffusion tensor and 1H MRS imaging. J Neurol Neurosurg Psychiatry 2004; 75: 1281-6.
29. Oksenberg JR, Barcellos LF, Cree BA, Baranzini SE, Bugawan TL, Khan O, et al. Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet 2004; 74: 160-7.
30. Oksenberg JR, Begovich AB, Erlich HA, Steinman L. Genetic factors in multiple sclerosis. JAMA 1993; 270: 2362-9.
31. Ota K, Matsui M, Milford EL, Mackin GA, Weiner HL, Hafler DA. T-cell recognition of an immunodominant myelin basic protein epitope in multiple sclerosis. Nature 1990; 346: 183-7.
32. Piras MR, Magnano I, Canu ED, Paulus KS, Satta WM, Soddu A, et al. Longitudinal study of cognitive dysfunction in multiple sclerosis: neuropsychological, neuroradiological, and neurophysiological findings. J Neurol Neurosurg Psychiatry 2003; 74: 878-85.
33. Polman CH, Reingold SC, Edan G, Filippi M, Hartung HP, Kappos L, et al. Diagnostic criteria for multiple sclerosis: 2005 revisions to the 'McDonald Criteria'. Ann Neurol 2005; 58: 840-6.
34. Rao SM, Leo GJ, Haughton VM, St Aubin-Faubert P, Bernardin L. Correlation of magnetic resonance imaging with neuropsychological testing in multiple sclerosis. Neurology 1989; 39: 161-6.
35. Rao SM, Leo GJ, Bernardin L, Unverzagt F. Cognitive dysfunction in multiple sclerosis. I. Frequency, patterns, and prediction. Neurology 1991; 41: 685-91.
36. Ratiney H, Noworolski SM, Sdika M, Srinivasan R, Henry RG, Nelson SJ, et al. Estimation of metabolite T1 relaxation times using tissue specific analysis, signal averaging and bootstrapping from magnetic resonance spectroscopic imaging data. Magma 2007; 20: 143-55.
37. Rubio JP, Bahlo M, Butzkueven H, van Der Mei IA, Sale MM, Dickinson JL, et al. Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis. Am J Hum Genet 2002; 70: 1125-37.
38. Sawcer S, Ban M, Maranian M, Yeo TW, Compston A, Kirby A, et al. A high-density screen for linkage in multiple sclerosis. Am J Hum Genet 2005; 77: 454-67.
39. Scholz C, Patton KT, Anderson DE, Freeman GJ, Hafler DA. Expansion of autoreactive T cells in multiple sclerosis is independent of exogenous B7 costimulation. J Immunol 1998; 160: 1532-8.
40. Simmons ML, Frondoza CG, Coyle JT. Immunocytochemical localization of N-acetyl-aspartate with monoclonal antibodies. Neuroscience 1991; 45: 37-45.
41. Smith SM, De Stefano N, Jenkinson M, Matthews PM. Normalized accurate measurement of longitudinal brain change. J Comp Assist Tomography 2001; 3: 466-75.
42. Smith SM, Rao A, De Stefano N, Jenkinson M, Schott JM, Matthews PM, et al. Longitudinal and cross-sectional analysis of atrophy in Alzheimer's disease: cross-validation of BSI, SIENA and SIENAX. Neuroimage 2007; 36: 1200-6.
43. Srinivasan R, Cunningham C, Chen A, Vigneron D, Hurd R, Nelson S, et al. TE-averaged two-dimensional proton spectroscopic imaging of glutamate at 3 T. Neuroimage 2006; 30: 1171-8.
44. Srinivasan R, Sailasuta N, Hurd R, Nelson S, Pelletier D. Evidence of elevated glutamate in multiple sclerosis using magnetic resonance spectroscopy at 3 T. Brain 2005; 128: 1016-25.
45. Trapp BD, Peterson J, Ransohoff RM, Rudick R, Mork S, Bo L. Axonal transection in the lesions of multiple sclerosis. N Engl J Med 1998; 338: 278-85.
46. van Walderveen MA, Barkhof F, Pouwels PJ, van Schijndel RA, Polman CH, Castelijns JA. Neuronal damage in T1-hypointense multiple sclerosis lesions demonstrated in vivo using proton magnetic resonance spectroscopy. Ann Neurol 1999; 46: 79-87.
47. Villoslada P, Barcellos LF, Rio J, Begovich AB, Tintore M, Sastre-Garriga J, et al. The HLA locus and multiple sclerosis in Spain. Role in disease susceptibility, clinical course and response to interferon-beta. J Neuroimmunol 2002; 130: 194-201.
48. Wucherpfennig KW, Hafler DA. A review of T-cell receptors in multiple sclerosis: clonal expansion and persistence of human T-cells specific for an immunodominant myelin basic protein peptide. Ann N Y Acad Sci 1995; 756: 241-58.
49. Wucherpfennig KW, Zhang J, Witek C, Matsui M, Modabber Y, Ota K, et al. Clonal expansion and persistence of human T cells specific for an immunodominant myelin basic protein peptide. J Immunol 1994; 152: 5581-92.
50. Yeo TW, De Jager PL, Gregory SG, Barcellos LF, Walton A, Goris A, et al. A second major histocompatibility complex susceptibility locus for multiple sclerosis. Ann Neurol 2007; 61: 228-36.
51. Zamvil S, Nelson P, Trotter J, Mitchell D, Knobler R, Fritz R, et al. T-cell clones specific for myelin basic protein induce chronic relapsing paralysis and demyelination. Nature 1985; 317: 355-8.
52. Zhang Y, Brady M, Smith S. Segmentation of brain MR images through a hidden Markov random field model and the expectation-maximization algorithm. IEEE Trans Med Imaging 2001; 20: 45-57.
53. Zhou D, Srivastava R, Nessler S, Grummel V, Sommer N, Bruck W, et al. Identification of a pathogenic antibody response to native myelin oligodendrocyte glycoprotein in multiple sclerosis. Proc Natl Acad Sci USA 2006; 103: 19057-62.