Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis

Journal of Neuroimmunology

Volumn 227, Issue 1-2, 2010, Pages 162-166

  Nischwitz, Sandra ^a   Cepok, Sabine ^b   Kroner, Antje ^c   Wolf, Christiane ^a   Knop, Matthias ^a   Müller Sarnowski, Felix ^a   Pfister, Hildegard ^a   Roeske, Darina ^a   Rieckmann, Peter ^d   Hemmer, Bernhard ^b   Ising, Marcus ^a   Uhr, Manfred ^a   Bettecken, Thomas ^a   Holsboer, Florian ^a   Müller Myhsok, Bertram ^a   Weber, Frank ^a  

^a MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Association study; Multiple sclerosis; Susceptibility genes; VAV2; ZNF433

Indexed keywords

HLA ANTIGEN; HLA C ANTIGEN; HLA DQA1 ANTIGEN; HLA DR ANTIGEN; REPRESSOR PROTEIN; VAV PROTEIN; VAV2 PROTEIN, HUMAN; ZINC FINGER PROTEIN; ZNF433 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; B LYMPHOCYTE; CASE CONTROL STUDY; CELLULAR IMMUNITY; CHROMOSOME 6; CONTROLLED STUDY; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; GERMANY; HLA SYSTEM; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE; VAV2 GENE; ZNF433 GENE; COMPARATIVE STUDY; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; METABOLISM; MIDDLE AGED; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HLA ANTIGENS; HUMANS; MALE; MIDDLE AGED; MULTIPLE SCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-VAV; REPRESSOR PROTEINS; YOUNG ADULT; ZINC FINGERS;

EID: 77956649792     PISSN: 01655728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jneuroim.2010.06.003     Document Type: Article

References (40)

1. Arana E., Vehlow A., Harwood N.E., Vigorito E., Henderson R., Turner M., Tybulewicz V.L., Batista F.D. Activation of the small GTPase Rac2 via the B cell receptor regulates B cell adhesion and immunological-synapse formation. Immunity 2008, 28:88-99.
2. Arthur A.T., Armati P.J., Bye C., Southern MS Genetics Consortium, Heard R.N., Stewart G.J., Pollard J.D., Booth D.R. Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission. BMC Med. Genet. 2008, 9:17-28.
3. Baranzini S.E., Wang J., Gibson R.A., Galwey N., Naegelin Y., Barkhof F., Radue E.W., Lindberg R.L., Uitdehaag B.M., Johnson M.R., Angelakopoulou A., Hall L., Richardson J.C., Prinjha R.K., Gass A., Geurts J.J., Kragt J., Sombekke M., Vrenken H., Qualley P., Lincoln R.R., Gomez R., Caillier S.J., Gorge M.F., Mousavi H., Guerriero R., Okuda D.T., Cree B.A., Green A.J., Waubant E., Goodin D.S., Pelletier D., Matthews P.M., Hauser S.L., Kappos L., Polman C.H., Oksenberg J.R. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Hum. Mol. Genet. 2009, 18:767-778.
4. Burfoot R.K., Jensen C.J., Field J., Stankovich J., Varney M.D., Johnson L.J., Butzkueven H., Booth D., Bahlo M., Tait B.D., Taylor B.V., Speed T.P., Heard R., Stewart G.J., Foote S.J., Kilpatrick T.J., Rubio J.P. SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians. Tissue Antigens 2008, 71:42-50.
5. Compston A., Coles A. Multiple sclerosis. Lancet 2008, 372:1502-1517.
6. DeFranco A.L. VAV and the B cell signalosome. Nat. Immunol. 2001, 2:482-484.
7. DeJager P.L., Jia X., Wang J., de Bakker P.I.W., Ottoboni L., Aggarwal N.T., Piccio L., Raychaudhuri S., Tran D., Aubin C., Briskin R., Romano S., IMSGC, Baranzini S.E., McCauley J.L., Pericak-Vance M.A., Haines J.L., Gibson R.A., Naeglin Y., Uitdehaag B., Matthews P.M., Kappos L., Polman C., McArdle W., Strachan D.P., Evans D., Cross A.H., Daly M.J., Compston A., Sawcer S.J., Weiner H.L., Hauer S.L., Hafler D.A., Oksenberg J.R. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1a as new multiple sclerosis susceptibility loci. Nat. Genet. 2009, 41:776-782.
8. D'Netto M.J., Ward H., Morrison K.M., Ramagopalan S.V., Dyment D.A., DeLuca G.C., Handunnetthi L., Sadovnick A.D., Ebers G.C. Risk alleles for multiple sclerosis in multiplex families. Neurology 2009, 72:1984-1988.
9. Doody G.M., Billadeau D.D., Clayton E., Hutchings A., Berland R., McAdam S., Leibson P.J., Turner M. Vav-2 controls NFAT-dependent transcription in B- but not T-lymphocytes. EMBO J. 2000, 19:6173-6184.
10. Doody G.M., Bell S.E., Vigorito E., Clayton E., McAdam S., Tooze R., Fernandez C., Lee I.J., Turner M. Signal transduction through Vav-2 participates in humoral immune responses and B cell maturation. Nat. Immunol. 2001, 2:542-547.
11. Duvefelt K., Anderson M., Fogdell-Hahn A., Hillert J. A NOTCH4 association with multiple sclerosis is secondary to HLA-DR*1501. Tissue Antigens 2004, 63:13-20.
12. Fogdell-Hahn A., Ligers A., Gronning M., Hillert J., Olerup O. Multiple sclerosis: a modifying influence of HLA class I genes in an HLA class II associated autoimmune disease. Tissue Antigens 2000, 55:140-148.
13. Franciotta D., Salvetti M., Lolli F., Serafini B., Aloisi F. B cells and multiple sclerosis. Lancet Neurol. 2008, 7:852-858.
14. Friese M.A., Fugger L. Pathogenic CD8(+) T cells in multiple sclerosis. Ann. Neurol. 2009, 66:132-141.
15. Gregory S.G., Schmidt S., Seth P., Oksenberg J.R., Hart J., Prokop A., Caillier S.J., Ban M., Goris A., Barcellos L.F., Lincolnm R., McCauley J.L., Sawcer S.J., Compston D.A., Dubois B., Hauser S.L., Garcia-Blanco M.A., Pericak-Vance M.A., Haines J.L. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat. Genet. 2007, 39:1083-1091. Multiple Sclerosis Genetics Group.
16. Hauser S.L., Bhan A.K., Gilles F., Kemp M., Kerr C., Weiner H.L. Immunohistochemical analysis of the cellular infiltrate in multiple sclerosis lesions. Ann. Neurol. 1986, 19:578-587.
17. Henning S.W., Cantrell D.A. GTPases in antigen receptor signalling. Curr. Opin. Immunol. 1998, 10:322-329.
18. Hoppenbrouwers I.A., Aulchenko Y.S., Janssens A.C., Ramagopalan S.V., Broer L., Kayser M., Ebers G.C., Oostra B.A., van Duijn C.M., Hintzen R.Q. Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis. J. Hum. Genet. 2009, 54:676-680.
19. Hyde C.A., Missailidis S. Inhibition of arachidonic acid metabolism and its implication on cell proliferation and tumour-angiogenesis. Int. Immunopharmacol. 2009, 9:701-715.
20. International Multiple Sclerosis Genetics Consortium (IMSGC) Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J. Med. 2007, 357:851-862.
21. Jagodic M., Colacios C., Nohra R., Dejean A.S., Beyeen A.D., Khademi M., Casemayou A., Lamouroux L., Duthoit C., Papapietro O., Sjöhölm L., Bernard I., Lagrange D., Dahlman I., Lundmark F., Oturai A.B., Soendergaard H.B., Kemppinen A., Saarela J., Tienari P.J., Harbo H.F., Spurkland A., Ramagopalan S.V., Sadovnick D.A., Ebers G.C., Seddighzadeh M., Klareskog L., Alfredsson L., Padyukov L., Hillert J., Clanet M., Edan G., Fontaine B., Fournié G.J., Kockum I., Saoudi A., Olsson T. A role for VAV1 in experimental autoimmune encephalomyelitis and multiple sclerosis. Sci. Transl. Med. 2009, 1:10-21.
22. Lincoln M.R., Ramagopalan S.V., Chao M.J., Herrera B.M., Deluca G.C., Orton S.M., Dyment D.A., Sadovnick A.D., Ebers G.C. Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:7542-7547.
23. Lundmark F., Duvefelt K., Iacobaeus E., Kockum I., Wallström E., Khademi M., Oturai A., Ryder L.P., Saarela J., Harbo H.F., Celius E.G., Salter H., Olsson T., Hillert J. Variation in interleukin 7 receptor α chain (IL7R) influences risk of multiple sclerosis. Nat. Genet. 2007, 39:1108-1113.
24. Martínez A., Perdigones N., Cénit M., Espino L., Varadé J., Lamas J.R., Santiago J.L., Fernández-Arquero M., de la Calle H., Arroyo R., de la Concha E.G., Fernandez-Gutierrez B., Urcelay E. Chromosomal region 16p13: further evidence of increased predisposition to immune diseases. Ann. Rheum. Dis. 2010, 69:309-311.
25. Marusic S., Thakker P., Pelker J.W., Stedman N.L., Lee K.L., McKew J.C., Han L., Xu X., Wolf S.F., Borey A.J., Cui J., Shen M.W., Donahue F., Hassan-Zahraee M., Leach M.W., Shimizu T., Clark J.D. Blockade of cytosolic phospholipase A2 alpha prevents experimental autoimmune encephalomyelitis and diminishes development of Th1 and Th17 responses. J. Neuroimmunol. 2008, 204:29-37.
26. McDonald W.I., Compston A., Edan G., Goodkin D., Hartung H.P., Lublin F.D., McFarland H.F., Paty D.W., Polman C.H., Reingold S.C., Sandberg-Wollheim M., Sibley W., Thompson A., van den Noort S., Weinshenker B.Y., Wolinsky J.S. Recommended diagnostic criteria for multiple sclerosis: guidelines from the international panel on the diagnosis of multiple sclerosis. Ann. Neurol. 2001, 50:121-127.
27. Nielsen A.L., Ortiz J.A., You J., Oulad A.M., Khechumian R., Gansmuller A., Chambon P., Losson R. Interaction with members of the heterochromatin protein1 (HP1) family and histone deacetylation are differentially involved in transcriptional silencing by members of the TIF1 family. EMBO J. 1999, 18:6385-6395.
28. Olerup O., Hillert J. HLA class II-associated genetic susceptibility in multiple sclerosis: a critical evaluation. Tissue Antigens 1991, 38:1-15.
29. Perera D., Stankovich J., Butzkueven H., Taylor B.V., Foote S.J., Kilpatrick T.J., Rubio J.P. Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus. J. Neuroimmunol. 2009, 211:105-109.
30. Poser C.M., Paty D.W., Scheinberg L., McDonald W.I., Davis F.A., Ebers G.C., Johnson K.P., Sibley W.A., Silberberg D.H., Tourtellotte W.W. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann. Neurol. 1983, 13:227-231.
31. Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M.A.R., Bender D., Maller J., Sklar P., de Bakker P.I.W., Daly M.J., Sham P.C. PLINK: a toolset for whole-genome association and population-based linkage analysis. Am. J. Hum. Genet. 2007, 81:559-575.
32. Rubio J.P., Stankovich J., Field J., Tubridy N., Marriott M., Chapman C., Bahlo M., Perera D., Johnson L.J., Tait B.D., Varney M.D., Speed T.P., Taylor B.V., Foote S.J., Butzkueven H., Kilpatrick T.J. Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians. Genes Immun. 2008, 9:624-630.
33. Serafini B., Rosicarelli B., Magliozzi R., Stigliano E., Aloisi F. Detection of ectopic B-cell follicles with germinal centers in the meninges of patients with secondary progressive multiple sclerosis. Brain Pathol. 2004, 14:164-174.
34. Tedford K., Nitschke L., Girkontaite I., Charlesworth A., Chan G., Sakk V., Barbacid M., Fischer K.D. Compensation between Vav-1 and Vav-2 in B cell development and antigen receptor signaling. Nat. Immunol. 2001, 2:548-555.
35. Torosyan Y., Dobi A., Naga S., Mezhevaya K., Glasman M., Norris C., Jiang G., Mueller G., Pollard H., Srivastava M. Distinct effects of annexin A7 and p53 on arachidonate lipoxygenation in prostate cancer cells involve 5-lipoxygenase transcription. Cancer Res. 2006, 66:9609-9616.
36. Tybulewicz V.L.J. Vav-family proteins in T-cell signalling. Curr. Opin. Immunol. 2005, 17:267-274.
37. Weber F., Fontaine B., Cournu-Rebeix I., Kroner A., Knop M., Lutz S., Mueller-Sarnowski F., Uhr M., Bettecken T., Kohli M., Ripke S., Ising M., Rieckmann P., Brassat D., Semana G., Babron M.C., Mrejen S., Gout C., Lyon-Caen O., Yaouanq J., Edan G., Clanet M., Holsboer F., Clerget-Darpoux F., Mueller-Myhsok B. IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations. Genes Immun. 2008, 9:259-263.
38. Witzgall R., O'Leary E., Leaf A., Onaldi D., Bonventre J.V. The Krüppel-associated box-A (KRAB-A) domain of zinc finger proteins mediates transcriptional repression. Proc. Natl .Acad. Sci. U. S. A. 1994, 91:4514-4518.
39. Yeo T.W., De Jager P.L., Gregory S.G., Barcellos L.F., Walton A., Goris A., Fenoglio C., Ban M., Taylor C.J., Goodman R.S., Walsh E., Wolfish C.S., Horton R., Traherne J., Beck S., Trowsdale J., Caillier S.J., Ivinson A.J., Green T., Pobywajlo S., Lander E.S., Pericak-Vance M.A., Haines J.L., Daly M.J., Oksenberg J.R., Hauser S.L., Compston A., Hafler D.A., Rioux J.D., Sawcer S. A second major histocompatibility complex susceptibility locus for multiple sclerosis. Ann. Neurol. 2007, 61:228-236.
40. Zoledziewska M., Costa G., Pitzalis M., Cocco E., Melis C., Moi L., Zavattari P., Murru R., Lampis R., Morelli L., Poddie F., Frongia P., Pusceddu P., Bajorek M., Marras A., Satta A.M., Chessa A., Pugliatti M., Sotgiu S., Whalen M.B., Rosati G., Cucca F., Marrosu M.G. Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia. Genes Immun. 2009, 10:15-17.