BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4

Arthritis and Rheumatism

Volumn 60, Issue 11, 2009, Pages 3447-3454

  Dieude P ^a   Wipff, J ^a   Guedj, M ^b   Ruiz, B ^a   Melchers, I ^c   Hachulla, E ^d   Riemekasten, G ^e   Diot, E ^f   Hunzelmann, N ^g   Sibilia, J ^h   Tiev, K ⁱ   Mouthon, L ^a   Cracowski, J L ^j   Carpentier, P H ^j   Distler, J ^k   Amoura, Z ^l   Tarner, I ^m   Avouac, J ^a   Meyer, O ^a   Kahan, A ^a   Boileau, C ^a   Allanore, Y ^a   more..

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIV LILLE   (France)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f CHU BRETONNEAU   (France)

^g UNIVERSITY OF COLOGNE   (Germany)

^h UNIVERSITÉ DE STRASBOURG   (France)

ⁱ HÔPITAL SAINT ANTOINE   (France)

^j GRENOBLE UNIVERSITY HOSPITAL   (France)

^k UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^l SORBONNE UNIVERSITÉ   (France)

^m JUSTUS LIEBIG UNIVERSITY   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTERFERON REGULATORY FACTOR 5; MEMBRANE PROTEIN; PROTEIN BANK 1; STAT4 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN INTERACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC SCLEROSIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ALLELES; CASE-CONTROL STUDIES; COHORT STUDIES; EPISTASIS, GENETIC; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FRANCE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GERMANY; HAPLOTYPES; HUMANS; INTERFERON REGULATORY FACTORS; MALE; MEMBRANE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SCLERODERMA, SYSTEMIC; STAT4 TRANSCRIPTION FACTOR;

EID: 70350521796     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.24885     Document Type: Article

References (23)

1. Allanore Y, Wipff J, Kahan A, Boileau C. Genetic basis for systemic sclerosis. Joint Bone Spine 2007;74:577-583
2. Arias-Nunez MC, Llorca J, Vazquez-Rodriguez TR, Gomez- Acebo I, Miranda-Filloy JA, Martin J, et al. Systemic sclerosis in northwestern Spain: a 19-year epidemiologic study. Medicine (Baltimore) 2008;87:272-280
3. Ouimet JM, Pope JE, Gutmanis I, Koval J. Work disability in scleroderma is greater than in rheumatoid arthritis and is predicted by high HAQ scores. Open Rheumatol J 2008;2:44-52.
4. Dieude P, Guedj M, Wipff J, Avouac J, Fajardy I, Diot E, et al. Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. Arthritis Rheum 2009;60:225-233
5. Rueda B, Broen J, Simeon C, Hesselstrand R, Diaz B, Suarez H, et al. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. Hum Mol Genet 2009;18:2071-2077
6. Dieude P, Guedj M, Wipff J, Ruiz B, Hachulla E, Diot E, et al. STAT4 is a genetic factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis. Arthritis Rheum. In press.
7. Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 2008;40:211-216 (Pubitemid 351171404)
8. Dieude P, Guedj M, Wipff J, Avouac J, Hachulla E, Diot E, et al. The PTPN22 620W allele confers susceptibility to systemic sclerosis: findings of a large case-control study of European Caucasians and a meta-analysis. Arthritis Rheum 2008;58:2183-2188 (Pubitemid 351988112)
9. Hunzelmann N, Genth E, Krieg T, Lehmacher W, Melchers I, Meurer M, et al. The registry of the German Network for Systemic Scleroderma: frequency of disease subsets and patterns of organ involvement. Rheumatology (Oxford) 2008;47:1185-1192 (Pubitemid 352038224)
10. LeRoy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, Medsger TA, Jr., et al. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988;15:202-205 (Pubitemid 18073738)
11. Valentini G, Matucci Cerinic M. Disease-specific quality indicators, guidelines and outcome measures in scleroderma. Clin Exp Rheumatol 2007;25 Suppl 47:159-162 (Pubitemid 350167902)
12. Guedj M, Della-Chiesa E, Picard F, Nuel G. Computing power in case-control association studies through the use of quadratic approximations. II. Application to meta-statistics. Ann Hum Genet 2007;71:262-270
13. Sato S, Fujimoto M, Hasegawa M, Takehara K. Altered blood B lymphocyte homeostasis in systemic sclerosis: expanded naive B cells and diminished but activated memory B cells. Arthritis Rheum 2004;50:1918-1927 (Pubitemid 38725103)
14. Matsushita T, Hasegawa M, Yanaba K, Kodera M, Takehara K, Sato S. Elevated serum BAFF levels in patients with systemic sclerosis: enhanced BAFF signaling in systemic sclerosis B lymphocytes. Arthritis Rheum 2006;54:192-201. (Pubitemid 43122202)
15. Yokoyama K, Su IH, Tezuka T, Yasuda T, Mikoshiba K, Tarakhovsky A, et al. BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP3 receptor. EMBO J 2002;21:83-92. (Pubitemid 34087077)
16. Aiba Y, Yamazaki T, Okada T, Gotoh K, Sanjo H, Ogata M, et al. BANK negatively regulates Akt activation and subsequent B cell responses. Immunity 2006;24:259-268
17. Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003;421:634-639
18. Tsuchiya N, Kuroki K, Fujimoto M, Murakami Y, Tedder TF, Tokunaga K, et al. Association of a functional CD19 polymorphism with susceptibility to systemic sclerosis. Arthritis Rheum 2004;50:4002-4007 (Pubitemid 39643949)
19. Avouac J, Sordet C, Depinay C, Ardizonne M, Vacher-Lavenu MC, Sibilia J, et al. Systemic sclerosis-associated Sjögren's syndrome and relationship to the limited cutaneous subtype: results of a prospective study of sicca syndrome in 133 consecutive patients. Arthritis Rheum 2006;54:2243-2249 (Pubitemid 44051082)
20. Orozco G, Abelson AK, Gonzalez-Gay MA, Balsa A, Pascual- Salcedo D, Garcia A, et al. Study of functional variants of the BANK1 gene in rheumatoid arthritis. Arthritis Rheum 2009;60:372-379
21. Smith VP, Van Praet JT, Vandooren BR, Vander Cruyssen B, Naeyaert JM, Decuman S, et al. Rituximab in diffuse cutaneous systemic sclerosis: an open-label clinical and histopathological study. Ann Rheum Dis 2008. E-pub ahead of print.
22. Lafyatis R, Kissin E, York M, Farina G, Viger K, Fritzler MJ, et al. B cell depletion with rituximab in patients with diffuse cutaneous systemic sclerosis. Arthritis Rheum 2009;60:578-583
23. Rhodes B, Vyse TJ. The genetics of SLE: an update in the light of genome-wide association studies. Rheumatology (Oxford) 2008; 47:1603-1611