HERV-W polymorphism in chromosome X is associated with multiple sclerosis risk and with differential expression of MSRV

Retrovirology

Volumn 11, Issue 1, 2014, Pages

  García Montojo, Marta ^a   de la Hera, Belén ^a   Varadé, Jezabel ^a   de la Encarnación, Ana ^a   Camacho, Iris ^a   Domínguez Mozo, María ^a   Arias Leal, Ana ^a   García Martínez, Ángel ^a   Casanova, Ignacio ^a   Izquierdo, Guillermo ^b   Lucas, Miguel ^b   Fedetz, Maria ^c   Alcina, Antonio ^c   Arroyo, Rafael ^a   Matesanz, Fuencisla ^c   Urcelay, Elena ^a   Alvarez Lafuente, Roberto ^a  

^a INSTITUTO DE INVESTIGACIÓN SANITARIA DEL HOSPITAL CLÍNICO SAN CARLOS IDISSC   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN MACARENA   (Spain)

^c INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

Author keywords

Autoimmunity; Chromosome x; Gender differences; HERV W; Human endogenous retrovirus; Multiple sclerosis; Multiple sclerosis associated retrovirus; Sex

Indexed keywords

ARTICLE; CHROMOSOME MAP; CHROMOSOME XQ; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; ENDOGENOUS RETROVIRUS; FEMALE; GENETIC MARKER; GENOTYPE; HUMAN; HUMAN ENDOGENOUS RETROVIRUS W; MAJOR CLINICAL STUDY; MALE; MULTIPLE SCLEROSIS; MULTIPLE SCLEROSIS ASSOCIATED RETROVIRUS; MULTIPLE SCLEROSIS SEVERITY SCORE; NAMED INVENTORIES, QUESTIONNAIRES AND RATING SCALES; OPEN READING FRAME; PATHOGENESIS; PREVALENCE; RANK SUM TEST; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; VIRUS EXPRESSION; VIRUS TRANSCRIPTION; X CHROMOSOME;

HUMAN ENDOGENOUS RETROVIRUS; HUMAN ENDOGENOUS RETROVIRUS W; MULTIPLE SCLEROSIS ASSOCIATED RETROVIRUS;

ADULT; CHROMOSOMES, HUMAN, X; ENDOGENOUS RETROVIRUSES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MULTIPLE SCLEROSIS; POLYMORPHISM, GENETIC; RISK ASSESSMENT;

EID: 84892186588     PISSN: None     EISSN: 17424690     Source Type: Journal    
DOI: 10.1186/1742-4690-11-2     Document Type: Article

References (46)

1. Lower R, Lower J, Kurth R. The viruses in all of us: characteristics and biological significance of human endogenous retrovirus sequences. Proc Natl Acad Sci USA 1996, 93:5177-5184. 10.1073/pnas.93.11.5177, 39218, 8643549.
2. Blond JL, Lavillette D, Cheynet V, Bouton O, Oriol G, Chapel-Fernandes S, et al. An envelope glycoprotein of the human endogenous retrovirus HERV-W is expressed in the human placenta and fuses cells expressing the type D mammalian retrovirus receptor. J Virol 2000, 74:3321-3329. 10.1128/JVI.74.7.3321-3329.2000, 111833, 10708449.
3. Wang-Johanning F, Rycaj K, Plummer JB, Li M, Yin B, Frerich K, et al. Immunotherapeutic potential of anti-human endogenous retrovirus-k envelope protein antibodies in targeting breast tumors. J Natl Cancer Inst 2012, 104:189-210. 10.1093/jnci/djr540, 3274512, 22247020.
4. Liang Q, Xu Z, Xu R, Wu L, Zheng S. Expression patterns of non-coding spliced transcripts from human endogenous retrovirus HERV-H elements in colon cancer. PLoS One 2012, 7:e29950. 10.1371/journal.pone.0029950, 3253121, 22238681.
5. Goering W, Ribarska T, Schulz WA. Selective changes of retroelement expression in human prostate cancer. Carcinogenesis 2011, 32:1484-1492. 10.1093/carcin/bgr181, 21828060.
6. Rakoff-Nahoum S, Kuebler PJ, Heymann JJ, Sheehy E, Ortiz M, Ogg S, et al. Detection of T lymphocytes specific for human endogenous retrovirus K (HERV-K) in patients with seminoma. AIDS Res Hum Retroviruses 2006, 22:52-56. 10.1089/aid.2006.22.52, 16438646.
7. Muster T, Waltenberger A, Grassauer A, Hirschl S, Caucig P, Romirer I, et al. An endogenous retrovirus derived from human melanoma cells. Cancer Res 2003, 63:8735-8741.
8. Perron H, Hamdani N, Faucard R, Lajnef M, Jamain S, ban-Huard C, et al. Molecular characteristics of Human Endogenous Retrovirus type-W in schizophrenia and bipolar disorder. Transl Psychiatry 2012, 2:e201. 10.1038/tp.2012.125, 3565190, 23212585.
9. Yolken RH, Karlsson H, Yee F, Johnston-Wilson NL, Torrey EF. Endogenous retroviruses and schizophrenia. Brain Res Brain Res Rev 2000, 31:193-199. 10.1016/S0165-0173(99)00037-5, 10719148.
10. Yao Y, Schroder J, Nellaker C, Bottmer C, Bachmann S, Yolken RH, et al. Elevated levels of human endogenous retrovirus-W transcripts in blood cells from patients with first episode schizophrenia. Genes Brain Behav 2008, 7:103-112.
11. Nakagawa K, Brusic V, McColl G, Harrison LC. Direct evidence for the expression of multiple endogenous retroviruses in the synovial compartment in rheumatoid arthritis. Arthritis Rheum 1997, 40:627-638. 10.1002/art.1780400407, 9125244.
12. Perron H, Germi R, Bernard C, Garcia-Montojo M, Deluen C, Farinelli L, et al. Human endogenous retrovirus type W envelope expression in blood and brain cells provides new insights into multiple sclerosis disease. Mult Scler 2012,
13. Christensen T, Dissing SP, Riemann H, Hansen HJ, Munch M, Haahr S, et al. Molecular characterization of HERV-H variants associated with multiple sclerosis. Acta Neurol Scand 2000, 101:229-238.
14. Antony JM, Deslauriers AM, Bhat RK, Ellestad KK, Power C. Human endogenous retroviruses and multiple sclerosis: innocent bystanders or disease determinants?. Biochim Biophys Acta 1812, 2011:162-176.
15. Garson JA, Tuke PW, Giraud P, Paranhos-Baccala G, Perron H. Detection of virion-associated MSRV-RNA in serum of patients with multiple sclerosis. Lancet 1998, 351:33.
16. Serra C, Sotgiu S, Mameli G, Pugliatti M, Rosati G, Dolei A. Multiple sclerosis and multiple sclerosis-associated retrovirus in Sardinia. Neurol Sci 2001, 22:171-173. 10.1007/s100720170019, 11603622.
17. Perron H, Lazarini F, Ruprecht K, Pechoux-Longin C, Seilhean D, Sazdovitch V, et al. Human endogenous retrovirus (HERV)-W ENV and GAG proteins: physiological expression in human brain and pathophysiological modulation in multiple sclerosis lesions. J Neurovirol 2005, 11:23-33.
18. Mameli G, Astone V, Arru G, Marconi S, Lovato L, Serra C, et al. Brains and peripheral blood mononuclear cells of multiple sclerosis (MS) patients hyperexpress MS-associated retrovirus/HERV-W endogenous retrovirus, but not Human herpesvirus 6. J Gen Virol 2007, 88:264-274. 10.1099/vir.0.81890-0, 17170460.
19. Antony JM, Izad M, Bar-Or A, Warren KG, Vodjgani M, Mallet F, et al. Quantitative analysis of human endogenous retrovirus-W env in neuroinflammatory diseases. AIDS Res Hum Retroviruses 2006, 22:1253-1259. 10.1089/aid.2006.22.1253, 17209768.
20. Garcia-Montojo M, Dominguez-Mozo M, Arias-Leal A, Garcia-Martinez A, de Las Heras V, Casanova I, et al. The DNA copy number of human endogenous retrovirus-W (MSRV-type) is increased in multiple sclerosis patients and is influenced by gender and disease severity. PLoS One 2013, 8(1). Ref Type: Generic.
21. Zawada M, Liwien I, Pernak M, Januszkiewicz-Lewandowska D, Nowicka-Kujawska K, Rembowska J, et al. MSRV pol sequence copy number as a potential marker of multiple sclerosis. Pol J Pharmacol 2003, 55:869-875.
22. Mameli G, Serra C, Astone V, Castellazzi M, Poddighe L, Fainardi E, et al. Inhibition of multiple-sclerosis-associated retrovirus as biomarker of interferon therapy. J Neurovirol 2008, 14:73-77. 10.1080/13550280701801107, 18300077.
23. Saresella M, Rolland A, Marventano I, Cavarretta R, Caputo D, Marche P, et al. Multiple sclerosis-associated retroviral agent (MSRV)-stimulated cytokine production in patients with relapsing-remitting multiple sclerosis. Mult Scler 2009, 15:443-447. 10.1177/1352458508100840, 19251836.
24. Rolland A, Jouvin-Marche E, Viret C, Faure M, Perron H, Marche PN. The envelope protein of a human endogenous retrovirus-W family activates innate immunity through CD14/TLR4 and promotes Th1-like responses. J Immunol 2006, 176:7636-7644.
25. Perron H, Jouvin-Marche E, Michel M, Ounanian-Paraz A, Camelo S, Dumon A, et al. Multiple sclerosis retrovirus particles and recombinant envelope trigger an abnormal immune response in vitro, by inducing polyclonal Vbeta16 T-lymphocyte activation. Virology 2001, 287:321-332. 10.1006/viro.2001.1045, 11531410.
26. Firouzi R, Rolland A, Michel M, Jouvin-Marche E, Hauw JJ, Malcus-Vocanson C, et al. Multiple sclerosis-associated retrovirus particles cause T lymphocyte-dependent death with brain hemorrhage in humanized SCID mice model. J Neurovirol 2003, 9:79-93.
27. Laufer G, Mayer J, Mueller BF, Mueller-Lantzsch N, Ruprecht K. Analysis of transcribed human endogenous retrovirus W env loci clarifies the origin of multiple sclerosis-associated retrovirus env sequences. Retrovirology 2009, 6:37. 10.1186/1742-4690-6-37, 2672075, 19368703.
28. Pavlicek A, Paces J, Elleder D, Hejnar J. Processed pseudogenes of human endogenous retroviruses generated by LINEs: their integration, stability, and distribution. Genome Res 2002, 12:391-399. 155283, 11875026.
29. Voisset C, Bouton O, Bedin F, Duret L, Mandrand B, Mallet F, et al. Chromosomal distribution and coding capacity of the human endogenous retrovirus HERV-W family. AIDS Res Hum Retroviruses 2000, 16:731-740. 10.1089/088922200308738, 10826480.
30. Roebke C, Wahl S, Laufer G, Stadelmann C, Sauter M, Mueller-Lantzsch N, et al. An N-terminally truncated envelope protein encoded by a human endogenous retrovirus W locus on chromosome Xq22.3. Retrovirology 2010, 7:69. 10.1186/1742-4690-7-69, 2936387, 20735848.
31. Mameli G, Poddighe L, Astone V, Delogu G, Arru G, Sotgiu S, et al. Novel reliable real-time PCR for differential detection of MSRVenv and syncytin-1 in RNA and DNA from patients with multiple sclerosis. J Virol Methods 2009, 161:98-106. 10.1016/j.jviromet.2009.05.024, 19505508.
32. Roxburgh RH, Seaman SR, Masterman T, Hensiek AE, Sawcer SJ, Vukusic S, et al. Multiple sclerosis severity score: using disability and disease duration to rate disease severity. Neurology 2005, 64:1144-1151. 10.1212/01.WNL.0000156155.19270.F8, 15824338.
33. Mameli G, Poddighe L, Mei A, Uleri E, Sotgiu S, Serra C, et al. Expression and activation by Epstein Barr virus of human endogenous retroviruses-W in blood cells and astrocytes: inference for multiple sclerosis. PLoS One 2012, 7:e44991. 10.1371/journal.pone.0044991, 3459916, 23028727.
34. Brudek T, Luhdorf P, Christensen T, Hansen HJ, Moller-Larsen A. Activation of endogenous retrovirus reverse transcriptase in multiple sclerosis patient lymphocytes by inactivated HSV-1, HHV-6 and VZV. J Neuroimmunol 2007, 187:147-155. 10.1016/j.jneuroim.2007.04.003, 17493688.
35. Koch-Henriksen N, Sorensen PS. The changing demographic pattern of multiple sclerosis epidemiology. Lancet Neurol 2010, 9:520-532. 10.1016/S1474-4422(10)70064-8, 20398859.
36. Duquette P, Pleines J, Girard M, Charest L, Senecal-Quevillon M, Masse C. The increased susceptibility of women to multiple sclerosis. Can J Neurol Sci 1992, 19:466-471.
37. Ramagopalan SV, Yee IM, Dyment DA, Orton SM, Marrie RA, Sadovnick AD, et al. Parent-of-origin effect in multiple sclerosis: observations from interracial matings. Neurology 2009, 73:602-605. 10.1212/WNL.0b013e3181af33cf, 2830902, 19515994.
38. Ebers GC, Sadovnick AD, Dyment DA, Yee IM, Willer CJ, Risch N. Parent-of-origin effect in multiple sclerosis: observations in half-siblings. Lancet 2004, 363:1773-1774. 10.1016/S0140-6736(04)16304-6, 15172777.
39. Pozzilli C, Tomassini V, Marinelli F, Paolillo A, Gasperini C, Bastianello S. 'Gender gap' in multiple sclerosis: magnetic resonance imaging evidence. Eur J Neurol 2003, 10:95-97. 10.1046/j.1468-1331.2003.00519.x, 12535003.
40. Voskuhl RR, Gold SM. Sex-related factors in multiple sclerosis susceptibility and progression. Nat Rev Neurol 2012, 8:255-263. 10.1038/nrneurol.2012.43, 22450508.
41. Bianchi I, Lleo A, Gershwin ME, Invernizzi P. The X chromosome and immune associated genes. J Autoimmun 2012, 38:J187-J192. 10.1016/j.jaut.2011.11.012, 22178198.
42. Curtin F, Lang AB, Perron H, Laumonier M, Vidal V, Porchet HC, Hartung HP. GNbAC1, a humanized monoclonal antibody against the envelope protein of multiple sclerosis associated endogenous retrovirus: a first in-humans randomized clinical study. Clin Ther 2012, 34:2268-2278. 10.1016/j.clinthera.2012.11.006, 23200102.
43. 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, 50:121-127. 10.1002/ana.1032, 11456302.
44. Rozen S, Skaletsky HJ. Primer3 on the WWW for general users and for biologist programmers. Bioinformatics Methods and Protocols: Methods in Molecular Biology 2000, 365-386. Totowa, NJ: Humana Press, Krawetz S, Misener S.
45. Schmittgen TD, Livak KJ. Analyzing real-time PCR data by the comparative C(T) method. Nat Protoc 2008, 3:1101-1108. 10.1038/nprot.2008.73, 18546601.
46. Pfaffl MW. Quantification strategies in real-time PCR. A-Z of quantitative PCR 2004, 97. La Jolla, CA, USA: International University Line (IUL), Bustin SA, 3.