Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients

Pharmacogenomics

Volumn 13, Issue 1, 2012, Pages 43-53

  Tsareva, Ekaterina Y ^a,b   Kulakova, Olga G ^a,b   Boyko, Alexey N ^a,c   Shchur, Sergey G ^c   Lvovs, Dmitrijs ^d   Favorov, Alexander V ^d,e,f   Gusev, Evgeny I ^a   Vandenbroeck, Koen ^g,h   Favorova, Olga O ^a,b  

^a PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

^b INSTITUTE OF EXPERIMENTAL CARDIOLOGY   (Russian Federation)

^c Moscow City Multiple Sclerosis Center   (Russian Federation)

^d STATE RESEARCH INSTITUTE OF GENETICS AND SELECTION OF INDUSTRIAL MICROORGANISMS   (Russian Federation)

^e VAVILOV INSTITUTE OF GENERAL GENETICS   (Russian Federation)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^h BASQUE FOUNDATION FOR SCIENCE   (Spain)

Author keywords

APSampler; Copaxone; Cytokines; Glatiramer acetate; Multiple sclerosis; Pharmacogenomics; Polymorphism; SNP

Indexed keywords

ADENINE; ALANINE; ALPHA BETA INTERFERON RECEPTOR; BETA1 INTERFERON; CHEMOKINE RECEPTOR CCR5; CYTOSINE; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; GAMMA INTERFERON; GLATIRAMER; GUANINE; HLA DR ANTIGEN; INTERLEUKIN 7 RECEPTOR ALPHA; ISOLEUCINE; THREONINE; THYMINE; TRANSFORMING GROWTH FACTOR BETA1; TUMOR NECROSIS FACTOR; TYROSINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CCR5 GENE; CONTROLLED STUDY; CTLA4 GENE; DRB1 GENE; ETHNIC GROUP; FEMALE; GENE; GENETIC EPISTASIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; IFNAR1 GENE; IFNG GENE; IL7RA GENE; IMMUNE RESPONSE; INFB1 GENE; MAJOR CLINICAL STUDY; MALE; MULTIPLE SCLEROSIS; RUSSIAN; SINGLE NUCLEOTIDE POLYMORPHISM; TGFB1 GENE; TNF GENE; TREATMENT OUTCOME; TREATMENT RESPONSE;

ADULT; ALLELES; BIOMARKERS, PHARMACOLOGICAL; EPISTASIS, GENETIC; FEMALE; GENES, MHC CLASS II; GENETIC ASSOCIATION STUDIES; HLA-DRB1 CHAINS; HUMANS; MALE; MIDDLE AGED; MULTIFACTORIAL INHERITANCE; MULTIPLE SCLEROSIS; PEPTIDES; RECEPTOR, INTERFERON ALPHA-BETA; RECEPTORS, CCR5; TRANSFORMING GROWTH FACTOR BETA1;

EID: 83755178224     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.11.136     Document Type: Article

References (52)

1. Bruck W. The pathology of multiple sclerosis is the result of focal inflammatory demyelination with axonal damage. J. Neurol. 252(Suppl. 5), v3-v9 (2005). (Pubitemid 41532349)
2. Prat A, Antel J. Pathogenesis of multiple sclerosis. Curr. Opin. Neurol. 18(3), 225-230 (2005). (Pubitemid 40813747)
3. Khan OA, Tselis AC, Kamholz JA, Garbern JY, Lewis RA, Lisak RP. A prospective, open-label treatment trial to compare the effect of IFN beta-1a (Avonex), IFNbeta-1b (Betaseron), and glatiramer acetate (Copaxone) on the relapse rate in Relapsing- remitting multiple sclerosis. Eur. J. Neurol. 8(2), 141-148 (2001). (Pubitemid 32269633)
4. Boiko AN, Davydovskaia MF, Demina TL et al. [The results of longitudinal use of copaxone and betaferon in Moscow Multiple Sclerosis Center: issues of efficacy and adherence to therapy]. Zh Nevrol. Psikhiatr. Im. S S Korsakova (Spec. No. 3), 101-110 (2006).
5. Dhib-Jalbut S. Mechanisms of action of interferons and glatiramer acetate in multiple sclerosis. Neurology 58(8 Suppl. 4), S3-S9 (2002). (Pubitemid 34411848)
6. Freedman MS. Disease-modifying drugs for multiple sclerosis: current and future aspects. Expert Opin. Pharmacother. 7(Suppl. 1), S1-S9 (2006).
7. Farina C, Weber MS, Meinl E, Wekerle H, Hohlfeld R. Glatiramer acetate in multiple sclerosis: update on potential mechanisms of action. Lancet Neurol. 4(9), 567-575 (2005). (Pubitemid 41139978)
8. Racke MK, Lovett-Racke AE, Karandikar NJ. The mechanism of action of glatiramer acetate treatment in multiple sclerosis. Neurology 74(Suppl. 1), S25-S30 (2010).
9. Lalive PH, Neuhaus O, Benkhoucha M et al. Glatiramer acetate in the treatment of multiple sclerosis: emerging concepts regarding its mechanism of action. CNS Drugs 25(5), 401-414 (2011).
10. Comi G, Filippi M, Wolinsky JS. European/Canadian multicenter, double-blind, randomized, placebo-controlled study of the effects of glatiramer acetate on magnetic resonance imaging - measured disease activity and burden in patients with relapsing multiple sclerosis. European/Canadian Glatiramer Acetate Study Group. Ann. Neurol. 49(3), 290-297 (2001). (Pubitemid 32202781)
11. Johnson KP, Brooks BR, Cohen JA et al. Copolymer 1 reduces relapse rate and improves disability in Relapsing-remitting multiple sclerosis: results of a Phase III multicenter, double-blind placebo-controlled trial. The Copolymer 1 Multiple Sclerosis Study Group. Neurology 45(7), 1268-1276 (1995).
12. Fusco C, Andreone V, Coppola G et al. HLA-DRB1*1501 and response to copolymer-1 therapy in Relapsing-remitting multiple sclerosis. Neurology 57(11), 1976-1979 (2001). (Pubitemid 33126861)
13. Gross R, Healy BC, Cepok S et al. Population structure and HLA DRB1*1501 in the response of subjects with multiple sclerosis to first-line treatments. J. Neuroimmunol. 233(1-2), 168-174 (2011).
14. Grossman I, Avidan N, Singer C et al. Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers. Pharmacogenet. Genomics 17(8), 657-666 (2007). (Pubitemid 47057715)
15. Ligers A, Teleshova N, Masterman T et al. CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms. Genes Immun. 2(3), 145-152 (2001). (Pubitemid 33674879)
16. Dean M, Carrington M, Winkler C et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CCR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study. Science 273(5283), 1856-1862 (1996).
17. Gregory SG, Schmidt S, Seth P et al. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat. Genet. 39(9), 1083-1091 (2007). (Pubitemid 47340652)
18. Fridkis-Hareli M, Teitelbaum D, Gurevich E et al. Direct binding of myelin basic protein and synthetic copolymer 1 to class II major histocompatibility complex molecules on living antigen-presenting cells - specificity and promiscuity. Proc. Natl Acad. Sci. USA 91(11), 4872-4876 (1994).
19. He B, Navikas V, Lundahl J, Soderstrom M, Hillert J. Tumor necrosis factor alpha-308 alleles in multiple sclerosis and optic neuritis. J. Neuroimmunol. 63(2), 143-147 (1995). (Pubitemid 26020718)
20. Sauna ZE, Kimchi-Sarfaty C, Ambudkar SV, Gottesman MM. Silent polymorphisms speak: how they affect pharmacogenomics and the treatment of cancer. Cancer Res. 67(20), 9609-9612 (2007). (Pubitemid 47621204)
21. Pravica V, Perrey C, Stevens A et al. A single nucleotide polymorphism in the first intron of the human IFN-gamma gene: absolute correlation with a polymorphic CA microsatellite marker of high IFN-gamma production. Hum. Immunol. 61(9), 863-866 (2000).
22. Grainger DJ, Heathcote K, Chiano M et al. Genetic control of the circulating concentration of transforming growth factor type beta 1. Hum. Mol. Genet. 8(1), 93-97 (1999). (Pubitemid 29039053)
23. Fujita M, Scheurer ME, Decker SA et al. Role of type 1 IFNs in antiglioma immunosurveillance: using mouse studies to guide examination of novel prognostic markers in humans. Clin. Cancer Res. 16(13), 3409-3419 (2010).
24. McDonald WI, Compston A, Edan G et al. Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann. Neurol. 50(1), 121-127 (2001).
25. Sambrook J, Fritsch EF, Maniatis T. Chapter 6: Preparation and analysis of eukaryotic genomic DNA. In: Molecular Cloning. Nolan C (Ed.). Cold Spring Harbor Lab Press, NY, USA, 6.4-6.5 (2001).
26. Sudomoina MA, Boiko AN, Demina TL et al. [Connection of multiple sclerosis in the Russian population with alleles of the major histocompatibility complex DRB1 gene]. Mol. Biol. (Mosk.) 32(2), 291-296 (1998). (Pubitemid 128741750)
27. Makarycheva OIU, Tsareva EIU, Sudomoina MA et al. Analysis of linkage and association of alleles of proinflammatory cytokines genes IL-6, IFNg and TNF with multiple sclerosis using transmission disequilibrium test (TDT). Mol. Biol. (Mosk.) 44(5), 824-830 (2010).
28. Sudomoina MA, Sukhinina TS, Barsova RM et al. [Complex analysis of association of inflammation genes with myocardial infarction]. Mol. Biol. (Mosk.) 44(3), 463-471 (2010).
29. Sandford AJ, Pare PD. Direct PCR of small genomic DNA fragments from serum. Biotechniques 23(5), 890-892 (1997). (Pubitemid 27476141)
30. Favorov AV, Andreewski TV, Sudomoina MA et al. A Markov chain Monte Carlo technique for identification of combinations of allelic variants underlying complex diseases in humans. Genetics 171(4), 2113-2121 (2005).
31. O'Doherty C, Favorov A, Heggarty S et al. Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients. Pharmacogenomics 10(7), 1177-1186 (2009).
32. Yusuf S, Peto R, Lewis J et al. Beta blockade during and after myocardial infarction: an overview of the randomized trials. Prog. Cardiovasc. Dis. 27(5), 335-371 (1985). (Pubitemid 15107153)
33. Vandenbroeck K, Comabella M. Single-nucleotide polymorphisms in response to interferon-beta therapy in multiple sclerosis. J. Interferon Cytokine Res. 30(10), 727-732 (2010).
34. Dhib-Jalbut S, Chen M, Said A et al. Glatiramer acetate-reactive peripheral blood mononuclear cells respond to multiple myelin antigens with a Th2-biased phenotype. J. Neuroimmunol. 140(1-2), 163-171 (2003). (Pubitemid 36836102)
35. Duda PW, Schmied MC, Cook SL et al. Glatiramer acetate (Copaxone) induces degenerate, Th2-polarized immune responses in patients with multiple sclerosis. J. Clin. Invest. 105(7), 967-976 (2000). (Pubitemid 30203069)
36. Smith KJ, Pyrdol J, Gauthier L et al. Crystal structure of HLA-DR2 (DRA*0101, DRB1*1501) complexed with a peptide from human myelin basic protein. J. Exp. Med. 188(8), 1511-1520 (1998). (Pubitemid 28489588)
37. Fridkis-Hareli M, Strominger JL. Promiscuous binding of synthetic copolymer 1 to purified HLA-DR molecules. J. Immunol. 160(9), 4386-4397 (1998). (Pubitemid 28217296)
38. Duda PW, Krieger JI, Schmied MC et al. Human and murine CD4+ T cell reactivity to a complex antigen: recognition of the synthetic random polypeptide glatiramer acetate. J. Immunol. 165(12), 7300-7307 (2000). (Pubitemid 32001210)
39. Zhang Y, Jalili F, Ouamara N et al. Glatiramer acetate-reactive T lymphocytes regulate oligodendrocyte progenitor cell number in vitro: role of IGF-2. J. Neuroimmunol. 227(1-2), 71-79 (2010).
40. Dabbert D, Rosner S, Kramer M et al. Glatiramer acetate (copolymer-1)-specific, human T cell lines: cytokine profile and suppression of T cell lines reactive against myelin basic protein. Neurosci. Lett. 289(3), 205-208 (2000). (Pubitemid 30657974)
41. Hestvik AL, Skorstad G, Price DA et al. Multiple sclerosis: glatiramer acetate induces anti-inflammatory T cells in the cerebrospinal fluid. Mult. Scler. 14(6), 749-758 (2008).
42. Li MO, Sanjabi S, Flavell RA. Transforming growth factor-beta controls development, homeostasis, and tolerance of T cells by regulatory T cell-dependent and -independent mechanisms. Immunity 25(3), 455-471 (2006). (Pubitemid 44354214)
43. Marie JC, Liggitt D, Rudensky AY. Cellular mechanisms of fatal early-onset autoimmunity in mice with the T cell-specific targeting of transforming growth factor-beta receptor. Immunity 25(3), 441-454 (2006). (Pubitemid 44354215)
44. Sato K, Kawasaki H, Nagayama H et al. TGF-beta 1 reciprocally controls chemotaxis of human peripheral blood monocyte-derived dendritic cells via chemokine receptors. J. Immunol. 164(5), 2285-2295 (2000). (Pubitemid 30115454)
45. Paglinawan R, Malipiero U, Schlapbach R et al. TGF beta directs gene expression of activated microglia to an anti-inflammatory phenotype strongly focusing on chemokine genes and cell migratory genes. Glia 44(3), 219-231 (2003). (Pubitemid 37484473)
46. Korn T, Bettelli E, Oukka M, Kuchroo VK. IL-17 and Th17 cells. Annu. Rev. Immunol. 27, 485-517 (2009).
47. Dardalhon V, Awasthi A, Kwon H et al. IL-4 inhibits TGF-beta-induced Foxp3+ T cells and, together with TGF-beta, generates IL-9+ IL-10+ Foxp3(-) effector T cells. Nat. Immunol. 9(12), 1347-1355 (2008).
48. Veldhoen M, Uyttenhove C, van Snick J et al. Transforming growth factor-beta 'reprograms' the differentiation of T helper 2 cells and promotes an interleukin 9-producing subset. Nat. Immunol. 9(12), 1341-1346 (2008).
49. Sorensen TL, Tani M, Jensen J et al. Expression of specific chemokines and chemokine receptors in the central nervous system of multiple sclerosis patients. J. Clin. Invest. 103(6), 807-815 (1999). (Pubitemid 29152626)
50. Platanias LC. Mechanisms of type-I- and type-II-interferon-mediated signalling. Nat. Rev. Immunol. 5(5), 375-386 (2005). (Pubitemid 40685987)
51. Goertsches RH, Zettl UK, Hecker M. Sieving treatment biomarkers from blood gene expression profiles: A pharmacogenomic update on two types of multiple sclerosis therapy. Pharmacogenomics 12(3), 423-432 (2011).
52. Comabella M, Vandenbroeck K. Pharmacogenomics and multiple sclerosis: moving toward individualized medicine. Curr. Neurol. Neurosci. Rep. 11(5), 484-491 (2011).