Allelic combinations of immune-response genes as possible composite markers of IFN-β efficacy in multiple sclerosis patients

Pharmacogenomics

Volumn 13, Issue 15, 2012, Pages 1689-1700

  Kulakova, Olga G ^a,b   Tsareva, Ekaterina Yu ^a,b   Boyko, Alexey N ^a,c   Shchur, Sergey G ^c   Gusev, Evgeny I ^a   Lvovs, Dmitrijs ^d   Favorov, Alexander V ^d,e,f   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; biomarker; composite marker; epistasis; IFN ; interferon ; multiple sclerosis; pharmacogenomics; polymorphism; SNP

Indexed keywords

BETA INTERFERON;

ADULT; ARTICLE; CCR5 GENE; CTLA4 GENE; DISEASE SEVERITY; DRB1 GENE; DRUG EFFICACY; DRUG RESPONSE; EVENT FREE SURVIVAL; FEMALE; GENE; GENE FREQUENCY; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC EPISTASIS; GENETIC MARKER; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; IFNAR1 GENE; IFNB1 GENE; IFNG GENE; IMMUNE RESPONSE; MAJOR CLINICAL STUDY; MALE; MULTIPLE SCLEROSIS; POLYMORPHIC LOCUS; RELAPSE; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TGFB1 GENE; TREATMENT DURATION;

ALLELES; GENE FREQUENCY; GENETIC LOCI; GENOTYPE; HUMANS; INTERFERON-BETA; MULTIPLE SCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, INTERFERON ALPHA-BETA; RECEPTORS, CCR5; TRANSFORMING GROWTH FACTOR BETA1;

EID: 84870034810     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.12.161     Document Type: Article

References (52)

1. Comabella M, Khoury SJ. Immunopathogenesis of multiple sclerosis. Clin. Immunol. 142(1), 2-8 (2012).
2. Stadelmann C, Wegner C, Bruck W. Inflammation, demyelination, and degeneration - recent insights from MS pathology. Biochim. Biophys. Acta 1812(2), 275-282 (2011).
3. Rio J, Tintore M, Nos C et al. Interferon b in relapsing-remitting multiple sclerosis. An eight years experience in a specialist multiple sclerosis centre. J. Neurol. 252(7), 795-800 (2005). (Pubitemid 40984854)
4. Ford C, Goodman AD, Johnson K et al. Continuous long-term immunomodulatory therapy in relapsing multiple sclerosis: results from the 15-year analysis of the US prospective open-label study of glatiramer acetate. Mult. Scler. 16(3), 342-350 (2010).
5. 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).
6. Cohen BA, Rivera VM. PRISMS: the story of a pivotal clinical trial series in multiple sclerosis. Curr. Med. Res. Opin. 26(4), 827-838 (2010).
7. Maher SG, Romero-Weaver AL, Scarzello AJ et al. Interferon: cellular executioner or white knight? Curr. Med. Chem. 14(12), 179-1289 (2007).
8. Kieseier BC. The mechanism of action of interferon-b in relapsing multiple sclerosis. CNS Drugs 25(6), 491-502 (2011).
9. Oliver BJ, Kohli E, Kasper LH. Interferon therapy in relapsing-remitting multiple sclerosis: a systematic review and meta-analysis of the comparative trials. J. Neurol. Sci. 302(1-2), 96-105 (2011).
10. Durelli L, Verdun E, Barbero P et al. Every-other-day interferon b-1b versus once-weekly interferon b-1a for multiple sclerosis: results of a 2-year prospective randomised multicentre study (INCOMIN). Lancet 359(9316), 1453-1460 (2002). (Pubitemid 34457761)
11. Comi G. Shifting the paradigm toward earlier treatment of multiple sclerosis with interferon b. Clin. Ther. 31(6), 1142-1157 (2009).
12. Gauthier SA, Glanz BI, Mandel M et al. Incidence and factors associated with treatment failure in the CLIMB multiple sclerosis cohort study. J. Neurol. Sci. 284(1-2), 116-119 (2009).
13. Rio J, Nos C, Tintore M et al. Defining the response to interferon-b in relapsing-remitting multiple sclerosis patients. Ann. Neurol. 59(2), 344-352 (2006). (Pubitemid 43202488)
14. 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)
15. Martinez A, De Las Heras V, Mas Fontao A et al. An IFNG polymorphism is associated with interferon-b response in Spanish MS patients. J. Neuroimmunol. 173(1-2), 196-199 (2006).
16. Wergeland S, Beiske A, Nyland H et al. IL-10 promoter haplotype influence on interferon treatment response in multiple sclerosis. Eur J. Neurol. 12(3), 171-175 (2005). (Pubitemid 40278522)
17. Cunningham S, Graham C, Hutchinson M et al. Pharmacogenomics of responsiveness to interferon IFN-b treatment in multiple sclerosis: a genetic screen of 100 type I interferon-inducible genes. Clin. Pharmacol. Ther. 78(6), 635-646 (2005).
18. Vosslamber S, Van Der Voort LF, Van Den Elskamp IJ et al. Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of interferonb therapy in multiple sclerosis. Genes Immun. 12(6), 466-472 (2011).
19. 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).
20. Byun E, Caillier SJ, Montalban X et al. Genome-wide pharmacogenomic analysis of the response to interferon b therapy in multiple sclerosis. Arch. Neurol. 65(3), 337-344 (2008). (Pubitemid 351398518)
21. Comabella M, Craig DW, Morcillo-Suarez C et al. Genome-wide scan of 500,000 single-nucleotide polymorphisms among responders and nonresponders to interferon b therapy in multiple sclerosis. Arch. Neurol. 66(8), 972-978 (2009).
22. O'Doherty C, Favorov A, Heggarty S et al. Genetic polymorphisms, their allele combinations and IFN-b treatment response in Irish multiple sclerosis patients. Pharmacogenomics 10(7), 1177-1186 (2009).
23. Tsareva E, Kulakova OG, Makarycheva O et al. Pharmacogenomics of multiple sclerosis: association of immune response genes polymorphism with copaxone treatment efficacy. Mol. Biol. (Mosk.). 45(6), 963-972 (2011).
24. 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)
25. Dean M, Carrington M, Winkler C et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 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). (Pubitemid 26322495)
26. Gregory SG, Schmidt S, Seth P et al. Interleukin 7 receptor a chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat. Genet. 39(9), 1083-1091 (2007). (Pubitemid 47340652)
27. He B, Navikas V, Lundahl J et al. Tumor necrosis factor a-308 alleles in multiple sclerosis and optic neuritis. J. Neuroimmunol. 63(2), 143-147 (1995). (Pubitemid 26020718)
28. Sauna ZE, Kimchi-Sarfaty C, Ambudkar SV et al. Silent polymorphisms speak: how they affect pharmacogenomics and the treatment of cancer. Cancer Res. 67(20), 9609-9612 (2007). (Pubitemid 47621204)
29. Valli A, Sette A, Kappos L et al. Binding of myelin basic protein peptides to human histocompatibility leukocyte antigen class II molecules and their recognition by T cells from multiple sclerosis patients. J. Clin. Invest. 91(2), 616-628 (1993). (Pubitemid 23064148)
30. Pravica V, Perrey C, Stevens A et al. A single nucleotide polymorphism in the first intron of the human IFN-g gene: absolute correlation with a polymorphic CA microsatellite marker of high IFN-g production. Hum. Immunol. 61(9), 863-866 (2000).
31. Grainger DJ, Heathcote K, Chiano M et al. Genetic control of the circulating concentration of transforming growth factor type b1. Hum. Mol. Genet. 8(1), 93-97 (1999). (Pubitemid 29039053)
32. 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).
33. 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).
34. 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).
35. Tsareva EY, Kulakova OG, Boyko AN et al. Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients. Pharmacogenomics 13(1), 43-53 (2012).
36. 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).
37. Yusuf S, Peto R, Lewis J et al. b blockade during and after myocardial infarction: an overview of the randomized trials. Prog. Cardiovasc. Dis. 27(5), 335-371 (1985). (Pubitemid 15107153)
38. Altman DG, Bland JM. Diagnostic tests. 1: Sensitivity and specificity. BMJ 308(6943), 1552 (1994).
39. 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).
40. Comabella M, Vandenbroeck K. Pharmacogenomics and multiple sclerosis: moving toward individualized medicine. Curr. Neurol. Neurosci. Rep. 11(5), 484-491 (2011).
41. Villoslada P, Barcellos LF, Rio J et al. The HLA locus and multiple sclerosis in Spain. Role in disease susceptibility, clinical course and response to interferon-b. J. Neuroimmunol. 130(1-2), 194-201 (2002). (Pubitemid 35240007)
42. Comabella M, Fernandez-Arquero M, Rio J et al. HLA class I and II alleles and response to treatment with interferon-b in relapsing-remitting multiple sclerosis. J. Neuroimmunol. 210(1-2), 116-119 (2009).
43. Sriram U, Barcellos LF, Villoslada P et al. Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis. Genes Immun. 4(2), 147-152 (2003). (Pubitemid 38967589)
44. Leyva L, Fernandez O, Fedetz M et al. IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-b treatment response. J. Neuroimmunol. 163(1-2), 165-171 (2005). (Pubitemid 40692959)
45. Baranzini SE, Mousavi P, Rio J et al. Transcription-based prediction of response to IFNb using supervised computational methods. PLoS Biol. 3(1), e2 (2005).
46. He XX, Chang Y, Jiang HJ et al. Persistent effect of IFNAR-1 genetic polymorphism on the long-term pathogenesis of chronic HBV infection. Viral Immunol. 23(3), 251-257 (2010).
47. Axtell RC, De Jong BA, Boniface K et al. T helper type 1 and 17 cells determine efficacy of interferon-b in multiple sclerosis and experimental encephalomyelitis. Nat. Med. 16(4), 406-412 (2010).
48. Comabella M, Lunemann JD, Rio J et al. A type I interferon signature in monocytes is associated with poor response to interferon-b in multiple sclerosis. Brain 132(Pt 12), 3353-3365 (2009).
49. Axtell RC, Raman C, Steinman L. Type I interferons: beneficial in Th1 and detrimental in Th17 autoimmunity. Clin. Rev. Allergy Immunol. doi:10.1007/s12016- 011-8296-5 (2012) (Epub ahead of print).
50. Vandenbroeck K, Goris A. Cytokine gene polymorphisms in multifactorial diseases: gateways to novel targets for immunotherapy? Trends Pharmacol. Sci. 24(6), 284-289 (2003). (Pubitemid 36725003)
51. Avolio C, Giuliani F, Liuzzi GM et al. Adhesion molecules and matrix metalloproteinases in multiple sclerosis: effects induced by interferon-b. Brain Res. Bull. 61(3), 357-364 (2003). (Pubitemid 36952481)
52. Gutcher I, Donkor MK, Ma Q, Rudensky AY, Flavell RA, Li MO. Autocrine transforming growth factor-b1 promotes in vivo Th17 cell differentiation. Immunity 34(3), 396-408 (2011).