Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK

Annals of the Rheumatic Diseases

Volumn 71, Issue 1, 2012, Pages 136-142

  Castillejo López, Casimiro ^a   Delgado Vega, Angélica M ^b   Wojcik, Jerome ^c   Kozyrev, Sergey V ^d   Thavathiru, Elangovan ^e   Wu, Ying Yu ^e   Sánchez, Elena ^e   Pöllmann, David ^b   López Egido, Juan R ^b   Fineschi, Serena ^b   Domínguez, Nicolás ^e   Lu, Rufei ^e   James, Judith A ^e   Merrill, Joan T ^e   Kelly, Jennifer A ^e   Kaufman, Kenneth M ^f,g   Moser, Kathy L ^e   Gilkeson, Gary ^h   Frostegård, Johan ⁱ   Pons Estel, Bernardo A ^j   D'Alfonso, Sandra ^k   Witte, Torsten ^l   Callejas, José Luis ^m   Harley, John B ^f,g   Gaffney, Patrick M ^e   Martin, Javier ⁿ   Guthridge, Joel M ^e   Alarcón Riquelme, Marta E ^a,e   more..

^a UNIVERSITY OF GRANADA   (Spain)

^b UPPSALA UNIVERSITY   (Sweden)

^c Serono International SA   (Switzerland)

^d UPPSALA UNIVERSITY   (Sweden)

^e OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^f VETERANS AFFAIRS MEDICAL CENTER   (United States)

^g CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^h MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

ⁱ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^j Sanatorio Parque   (Argentina)

^k UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^l LEIBNIZ UNIVERSITY HANNOVER   (Germany)

^m HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

ⁿ INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE KINASE;

ARTICLE; B LYMPHOCYTE; BANK1 GENE; BLK GENE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; GENE; GENE INTERACTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HOMEOSTASIS; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MAJOR CLINICAL STUDY; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; B-LYMPHOCYTES; CASE-CONTROL STUDIES; EPISTASIS, GENETIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MEMBRANE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; SIGNAL TRANSDUCTION; SRC-FAMILY KINASES;

EID: 82955249081     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2011-200085     Document Type: Article

References (25)

1. Kozyrev SV, Abelson AK, Wojcik J, et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 2008;40:211-16. (Pubitemid 351171404)
2. Guo L, Deshmukh H, Lu R, et al. Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population. Genes Immun 2009;10:531-8.
3. Chang YK, Yang W, Zhao M, et al. Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 2009;10:414-20.
4. Yokoyama K, Su Ih IH, Tezuka T, et al. BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP(3) receptor. EMBO J 2002;21:83-92. (Pubitemid 34087077)
5. Aiba Y, Yamazaki T, Okada T, et al. BANK negatively regulates Akt activation and subsequent B cell responses. Immunity 2006;24:259-68.
6. Hom G, Graham RR, Modrek B, et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008;358:900-9. (Pubitemid 351397089)
7. Yang W, Ng P, Zhao M, et al. Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 2009;10:219-26.
8. Ito I, Kawasaki A, Ito S, et al. Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population. Arthritis Rheum 2009;60:553-8.
9. Dymecki SM, Niederhuber JE, Desiderio SV. Specific expression of a tyrosine kinase gene, blk, in B lymphoid cells. Science 1990;247:332-6.
10. Texido G, Su IH, Mecklenbräuker I, et al. The B-cell-specific Src-family kinase Blk is dispensable for B-cell development and activation. Mol Cell Biol 2000;20:1227-33. (Pubitemid 30069243)
11. Tan EM, Cohen AS, Fries JF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982;25:1271-7. (Pubitemid 13221242)
12. Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplotype blocks in the human genome. Science 2002;296:2225-9. (Pubitemid 34680308)
13. Wirapati P, Forner K, Delgado-Vega A, et al. Detecting epistasis with restricted response patterns in pairs of biallelic loci. Ann Hum Genet 2011;75:133-45.
14. VanderWeele TJ. Epistatic interactions. Stat Appl Genet Mol Biol 2010;9:Article 1.
15. Pattin KA, White BC, Barney N, et al. A computationally efficient hypothesis testing method for epistasis analysis using multifactor dimensionality reduction. Genet Epidemiol 2009;33:87-94.
16. Miller DJ, Zhang Y, Yu G, et al. An algorithm for learning maximum entropy probability models of disease risk that efficiently searches and sparingly encodes multilocus genomic interactions. Bioinformatics 2009;25:2478-85.
17. Marchini J, Donnelly P, Cardon LR. Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet 2005;37:413-17.
18. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75. (Pubitemid 47330214)
19. Reimherr M, Nicolae DL. You've gotta be lucky: coverage and the elusive gene-gene interaction. Ann Hum Genet 2011;75:105-11.
20. Cordell HJ. Detecting gene-gene interactions that underlie human diseases. Nat Rev Genet 2009;10:392-404.
21. Cantor RM, Lange K, Sinsheimer JS. Prioritizing GWAS results: a review of statistical methods and recommendations for their application. Am J Hum Genet 2010;86:6-22.
22. Rossin EJ, Lage K, Raychaudhuri S, et al. Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genet 2011;7:e1001273.
23. Bandyopadhyay S, Mehta M, Kuo D, et al. Rewiring of genetic networks in response to DNA damage. Science 2010;330:1385-9.
24. Sun YV, Kardia SL. Identification of epistatic effects using a protein-protein interaction database. Hum Mol Genet 2010;19:4345-52.
25. Ferrell JE Jr. What do scaffold proteins really do? Sci STKE 2000;2000:pe1.