The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Popova E.V.

Kafedra nervnykh bolezneĭ fakul'teta poslevuzovskogo professional'nogo obrazovaniia vracheĭ Moskovskoĭ meditsinskoĭ akademii im. I.M. Sechenova

Kiselev I.S.

GBOU VPO «Rossiĭskiĭ natsionalnyĭ issledovatelskiĭ meditsinskiĭ universitet im. N.I. Pirogova» Minzdrava RF, Moskva

Boĭko A.N.

KGBUZ "Krasnoiarskiĭ kraevoĭ Tsentr po profilaktike i bor'be so SPID i infektsionnymi zabolevaniiami"

Sivertseva S.A.

Tiumenskiĭ oblastnoĭ tsentr rasseiannogo skleroza

Malkova N.A.

Novosibirskiĭ okruzhnoĭ tsentr rasseiannogo skleroza

Korobko D.S.

Oblastnoĭ tsentr rasseiannogo skleroza, Gosudarstvennaia novosibirskaia oblastnaia klinicheskaia bol'nitsa

Spirin N.N.

Kafedra nervnykh bolezneĭ i meditsinskoĭ genetiki s kursom neĭrokhirurgii Iaroslavskoĭ gosudarstvennoĭ meditsinskoĭ akademii

Kasatkin D.S.

Poliklinika #5, Iaroslavl'

Karaeva A.V.

Sverdlovsk Regional Clinical Hospital №1, Yekaterinburg, Russia

Turova E.L.

GBUZ «Sverdlovskaja oblastnaja klinicheskaja bolnitsa №1», Ekaterinburg

Spirina N.N.

Kafedra nervnykh bolezneĭ s meditsinskoĭ genetikoĭ i neĭrokhirurgieĭ Iaroslavskoĭ gosudarstvennoĭ meditsinskoĭ akademii

Volkova L.I.

Ural State Medical Academy, Ekaterinburg

Baulina N.M.

GBOU VPO «Rossiĭskiĭ natsionalnyĭ issledovatelskiĭ meditsinskiĭ universitet im. N.I. Pirogova» Minzdrava RF, Moskva

Bashinskaja V.V.

GBOU VPO «Rossiĭskiĭ natsionalnyĭ issledovatelskiĭ meditsinskiĭ universitet im. N.I. Pirogova» Minzdrava RF, Moskva

Kulakova O.G.

Kafedra nevrologii i neĭrokhirurgii i kafedra molekuliarnoĭ biologii i biotekhnologii Rossiĭskogo natsional'nogo issledovatel'skogo meditsinskogo universiteta im. N.I. Pirogova, Moskva

Favorova O.O.

Kafedra nevrologii i neĭrokhirurgii i kafedra molekuliarnoĭ biologii i biotekhnologii Rossiĭskogo natsional'nogo issledovatel'skogo meditsinskogo universiteta im. N.I. Pirogova, Moskva

Polymorphic variants of the immune response genes as risk factors for primary progressive multiple sclerosis

Authors:

Popova E.V., Kiselev I.S., Boĭko A.N., Sivertseva S.A., Malkova N.A., Korobko D.S., Spirin N.N., Kasatkin D.S., Karaeva A.V., Turova E.L., Spirina N.N., Volkova L.I., Baulina N.M., Bashinskaja V.V., Kulakova O.G., Favorova O.O.

More about the authors

Read: 2700 times


To cite this article:

Popova EV, Kiselev IS, Boĭko AN, et al. Polymorphic variants of the immune response genes as risk factors for primary progressive multiple sclerosis. S.S. Korsakov Journal of Neurology and Psychiatry. 2017;117(2‑2):14‑21. (In Russ.)
https://doi.org/10.17116/jnevro20171172214-21

References:

  1. Ebers GC. Natural history of primary progressive multiple sclerosis. Multiple sclerosis. 2004;109(suppl 1):8-13; discussion 13-15.
  2. Lucchinetti C, Bruck W, Parisi J, Scheithauer B, Rodriguez M, Lassmann H. A quantitative analysis of oligodendrocytes in multiple sclerosis lesions. A study of 113 cases. Brain: a journal of neurology. 1999;122(12):2279-2295.
  3. Lucchinetti C, Bruck W, Parisi J, Scheithauer B, Rodriguez M, Lassmann H. Heterogeneity of multiple sclerosis lesions: implications for the pathogenesis of demyelination. Annals of neurology. 2000;47(6):707-717.
  4. Bitsch A, Schuchardt J, Bunkowski S, Kuhlmann T, Bruck W. Acute axonal injury in multiple sclerosis. Correlation with demyelination and inflammation. Brain: a journal of neurology. 2000;123(6):1174-1183.
  5. Leech S, Kirk J, Plumb J, McQuaid S. Persistent endothelial abnormalities and blood-brain barrier leak in primary and secondary progressive multiple sclerosis. Neuropathology and applied neurobiology. 2007;33(1):86-98. doi:10.1111/j.1365-2990.2006.00781.x
  6. Kutzelnigg A, Lucchinetti CF, Stadelmann C, et al. Cortical demyelination and diffuse white matter injury in multiple sclerosis. Brain : a journal of neurology. 2005;128(11):2705-2712. doi:10.1093/brain/awh641
  7. Barcellos LF, Sawcer S, Ramsay PP, et al. Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Human molecular genetics. 2006;15(18):2813-2824. doi:10.1093/hmg/ddl223
  8. Nada MA, Labib DA. Tumor necrosis factor alpha gene -376 polymorphism and susceptibility to multiple sclerosis: an Egyptian study. Journal of neuroimmune pharmacology: the official journal of the Society on NeuroImmune Pharmacology. 2011;6(1):142-147. doi:10.1007/s11481-010-9220-0
  9. Losonczi E, Bencsik K, Fricska Nagy Z, et al. APOE epsilon status in Hungarian patients with primary progressive multiple sclerosis. Swiss medical weekly. 2010;140:13119. doi:10.4414/smw.2010.13119
  10. Maurer M, Ponath A, Kruse N, Rieckmann P. CTLA4 exon 1 dimorphism is associated with primary progressive multiple sclerosis. Journal of neuroimmunology. 2002;131(1-2):213-215.
  11. Stankovich J, Butzkueven H, Marriott M, et al. HLA-DRB1 associations with disease susceptibility and clinical course in Australians with multiple sclerosis. Tissue antigens. 2009;74(1):17-21. doi:10.1111/j.1399-0039.2009.01262.x
  12. Martinelli-Boneschi F, Esposito F, Brambilla P et al. A genome-wide association study in progressive multiple sclerosis. Multiple sclerosis. 2012;18(10):1384-1394. doi:10.1177/1352458512439118
  13. Booth DR, Arthur AT, Teutsch SM, et al. Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis. Journal of molecular medicine. 2005;83(10):822-830. doi:10.1007/s00109-005-0684-y
  14. Ramil E, Sanchez AJ, Gonzalez-Perez P, et al. The cannabinoid receptor 1 gene (CNR1) and multiple sclerosis: an association study in two case-control groups from Spain. Multiple sclerosis. 2010;16(2):139-146. doi:10.1177/1352458509355071
  15. Galimberti D, Macmurray J, Scalabrini D, et al. GSK3beta genetic variability in patients with Multiple Sclerosis. Neuroscience letters. 2011;497(1):46-48. doi:10.1016/j.neulet.2011.04.024
  16. Zivkovic M, Stankovic A, Dincic E, et al. The tag SNP for HLA-DRB1*1501, rs3135388, is significantly associated with multiple sclerosis susceptibility: cost-effective high-throughput detection by real-time PCR. Clinica chimica acta; international journal of clinical chemistry. 2009;406(1-2):27-30. doi:10.1016/j.cca.2009.05.004
  17. Kallaur AP, Oliveira SR, Simao AN, et al. Cytokine Profile in Patients with Progressive Multiple Sclerosis and Its Association with Disease Progression and Disability. Molecular neurobiology. 2016. doi:10.1007/s12035-016-9846-x
  18. van Luijn MM, Kreft KL, Jongsma ML et al. Multiple sclerosis-associated CLEC16A controls HLA class II expression via late endosome biogenesis. Brain: a journal of neurology. 2015;138(6):1531-1547. doi:10.1093/brain/awv080
  19. International Multiple Sclerosis Genetics C, Hafler DA, Compston A, et al. Risk alleles for multiple sclerosis identified by a genomewide study. The New England journal of medicine. 2007;357(9):851-862. doi:10.1056/NEJMoa073493
  20. Zuvich RL, Bush WS, McCauley JL et al. Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex. Human molecular genetics. 2011;20(17):3517-3524. doi:10.1093/hmg/ddr250
  21. Hashimoto M, Hiwatashi K, Ichiyama K, et al. SOCS1 regulates type I/type II NKT cell balance by regulating IFNgamma signaling. International immunology. 2011;23(3):165-176. doi:10.1093/intimm/dxq469
  22. Polman CH, Reingold SC, Edan G, et al. Diagnostic criteria for multiple sclerosis: 2005 revisions to the «McDonald Criteria». Annals of neurology. 2005;58(6):840-846. doi:10.1002/ana.20703
  23. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual. 1989.
  24. Akkad DA, Arning L, Ibrahim SM, Epplen JT. Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels. Genes and immunity. 2007;8(8):703-706. doi:10.1038/sj.gene.6364429
  25. Fishman D, Faulds G, Jeffery R, et al. The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. The Journal of clinical investigation. 1998;102(7):1369-1376. doi:10.1172/JCI2629
  26. Liu XK, Lin X, Gaffen SL. Crucial role for nuclear factor of activated T cells in T cell receptor-mediated regulation of human interleukin-17. The Journal of biological chemistry. 2004;279(50):52762-52771. doi:10.1074/jbc.M405764200
  27. Huang P, Dong L, Lu X, et al. Genetic variants in antigen presentation-related genes influence susceptibility to hepatitis C virus and viral clearance: a case control study. BMC infectious diseases. 2014;14:716. doi:10.1186/s12879-014-0716-8
  28. Leikfoss IS, Mero IL, Dahle MK, et al. Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus. Genes and immunity. 2013;14(1):62-66. doi:10.1038/gene.2012.52
  29. www.ncbi.nlm.nih.gov/tools/primer-blast/
  30. www.bioinfo.ut.ee/primer3-0.4.0/primer3/
  31. www.bioinfo.iconcologia.net/SNPstats_web/
  32. Favorov AV, Andreewski TV, Sudomoina MA, Favorova OO, Parmigiani G, Ochs MF. A Markov chain Monte Carlo technique for identification of combinations of allelic variants underlying complex diseases in humans. Genetics. 2005;171(4):2113-2121. doi:10.1534/genetics.105.048090
  33. www.broadinstitute.org/haploview/haploview/
  34. Makarycheva OYu, Tsareva EYu, Sudomoina MA et al. Family Analysis of Linkage and Association of HLA-DRB1, CTLA4, TGFB1, IL4, CCR5, RANTES, MMP9 and TIMP1 Gene Polymorphisms with Multiple Sclerosis. Acta naturae. 2011;3(1):85-92. (In Russ.).
  35. Kantarci OH, Schaefer-Klein JL, Hebrink DD, et al. A population-based study of IL4 polymorphisms in multiple sclerosis. Journal of neuroimmunology. 2003;137(1-2):134-139.
  36. Suppiah V, Goris A, Alloza I, et al. Polymorphisms in the interleukin-4 and IL-4 receptor genes and multiple sclerosis: a study in Spanish-Basque, Northern Irish and Belgian populations. International journal of immunogenetics. 2005;32(6):383-388. doi:10.1111/j.1744-313X.2005.00542.x
  37. Snapper CM, Finkelman FD, Paul WE. Differential regulation of IgG1 and IgE synthesis by interleukin 4. The Journal of experimental medicine. 1988;167(1):183-196.
  38. Mills CD. M1 and M2 Macrophages: Oracles of Health and Disease. Critical reviews in immunology. 2012;32(6):463-488.
  39. Butti E, Bergami A, Recchia A et al. IL4 gene delivery to the CNS recruits regulatory T cells and induces clinical recovery in mouse models of multiple sclerosis. Gene therapy. 2008;15(7):504-515. doi:10.1038/gt.2008.10
  40. Bashinskaya VV, Kulakova OG, Kiselev IS, et al. GWAS-identified multiple sclerosis risk loci involved in immune response: validation in Russians. Journal of neuroimmunology. 2015;282:85-91. doi:10.1016/j.jneuroim.2015.03.015
  41. Mero IL, Ban M, Lorentzen AR, et al. Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus. Genes and immunity. 2011;12(3):191-198. doi:10.1038/gene.2010.59
  42. Nischwitz S, Cepok S, Kroner A, et al. More CLEC16A gene variants associated with multiple sclerosis. Acta neurologica Scandinavica. 2011;123(6):400-406. doi:10.1111/j.1600-0404.2010.01421.x
  43. www.biogps.org/
  44. Schuster C, Gerold KD, Schober K, et al. The Autoimmunity-Associated Gene CLEC16A Modulates Thymic Epithelial Cell Autophagy and Alters T Cell Selection. Immunity. 2015;42(5):942-952. doi:10.1016/j.immuni.2015.04.011
  45. Oksenberg JR. Decoding multiple sclerosis: an update on genomics and future directions. Expert review of neurotherapeutics. 2013;13(12 suppl):11-19. doi:10.1586/14737175.2013.865867
  46. Yu L, Li Q, Lin J et al. Association between polymorphisms of PSMB8, PSMB9 and TAP2 genes with rheumatoid arthritis in ethnic Han Chinese from Yunnan. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2013;30(2):222-226. doi:10.3760/cma.j.issn.1003-9406.2013.04.023
  47. Mo MS, Huang W, Sun CC, et al. Association Analysis of Proteasome Subunits and Transporter Associated with Antigen Processing on Chinese Patients with Parkinson's Disease. Chinese medical journal. 2016;129(9):1053-1058. doi:10.4103/0366-6999.180513

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.