Single nucleotide polymorphisms in the FAM167A-BLK gene are associated with polymyositis/dermatomyositis in the Han Chinese population

Immunologic Research

Volumn 62, Issue 2, 2015, Pages 153-162

  Chen, Si ^a   Wu, Wei ^a   Li, Jing ^a   Wang, Qian ^a   Li, Yuan ^a   Wu, Ziyan ^a   Zheng, Wenjie ^a   Wu, Qingjun ^a   Wu, Chanyuan ^a   Zhang, Fengchun ^a   Li, Yongzhe ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

Association; Dermatomyositis; FAM167A BLK; Polymorphism; Polymyositis

Indexed keywords

B LYMPHOID TYROSINE KINASE; FAMILY WITH SEQUENCE SIMILARITY 167 MEMBER A PROTEIN; PROTEIN; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG; FAM167A-BLK PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DERMATOMYOSITIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC VARIABILITY; GENOTYPE; HAN CHINESE; HAPLOTYPE; HAPLOTYPE MAP; HETEROZYGOTE; HUMAN; INTERSTITIAL LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POLYMYOSITIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED;

ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHINA; CROSS-SECTIONAL STUDIES; DERMATOMYOSITIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMYOSITIS; PROTEINS;

EID: 84929709626     PISSN: 0257277X     EISSN: 15590755     Source Type: Journal    
DOI: 10.1007/s12026-015-8646-0     Document Type: Article

References (40)

1. Hirakata M. Autoantibodies and their clinical significance in idiopathic inflammatory myopathies; polymyositis/dermatomyositis and related conditions. Nihon Rinsho Meneki Gakkai Kaishi. 2007;30:444–54.
2. Chinoy H, Lamb JA, Ollier WE, Cooper RG. Recent advances in the immunogenetics of idiopathic inflammatory myopathy. Arthritis Res Ther. 2011;13:216.
3. Hassan AB, Nikitina-Zake L, Sanjeevi CB, Lundberg IE, Padyukov L. Association of the proinflammatory haplotype (MICA5.1/TNF2/TNFa2/DRB1*03) with polymyositis and dermatomyositis. Arthritis Rheum. 2004;50:1013–5.
4. Pachman LM, Liotta-Davis MR, Hong DK, Kinsella TR, Mendez EP, et al. TNFalpha-308A allele in juvenile dermatomyositis: association with increased production of tumor necrosis factor alpha, disease duration, and pathologic calcifications. Arthritis Rheum. 2000;43:2368–77.
5. Mamyrova G, O’Hanlon TP, Sillers L, Malley K, James-Newton L, et al. Cytokine gene polymorphisms as risk and severity factors for juvenile dermatomyositis. Arthritis Rheum. 2008;58:3941–50.
6. Chinoy H, Salway F, John S, Fertig N, Tait BD, et al. Tumour necrosis factor-alpha single nucleotide polymorphisms are not independent of HLA class I in UK Caucasians with adult onset idiopathic inflammatory myopathies. Rheumatology. 2007;46:1411–6.
7. Chinoy H, Salway F, John S, Fertig N, Tait BD, et al. Interferon-gamma and interleukin-4 gene polymorphisms in Caucasian idiopathic inflammatory myopathy patients in UK. Ann Rheum Dis. 2007;66:970–3.
8. Gono T, Kawaguchi Y, Sugiura T, Furuya T, Kawamoto M, et al. Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis. Mod Rheumatol. 2010;20:466–70.
9. Werth VP, Berlin JA, Callen JP, Mick R, Sullivan KE. Mannose binding lectin (MBL) polymorphisms associated with low MBL production in patients with dermatomyositis. J Investig Dermatol. 2002;119:1394–9.
10. Chinoy H, Platt H, Lamb JA, Betteridge Z, Gunawardena H, et al. The protein tyrosine phosphatase N22 gene is associated with juvenile and adult idiopathic inflammatory myopathy independent of the HLA 8.1 haplotype in British Caucasian patients. Arthritis Rheum. 2008;58:3247–54.
11. Sugiura T, Kawaguchi Y, Goto K, Hayashi Y, Tsuburaya R, et al. Positive association between STAT4 polymorphisms and polymyositis/dermatomyositis in a Japanese population. Ann Rheum Dis. 2012;71:1646–50.
12. Miller FW, Cooper RG, Vencovsky J, Rider LG, Danko K, et al. Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders. Arthritis Rheum. 2013;65:3239–47.
13. Jani M, Massey J, Wedderburn LR, Vencovsky J, Danko K, et al. Genotyping of immune-related genetic variants identifies TYK2 as a novel associated locus for idiopathic inflammatory myopathies. Ann Rheum Dis. 2014;73:1750–2.
14. Sugiura T, Kawaguchi Y, Goto K, Hayashi Y, Gono T, et al. Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility. PLoS ONE. 2014;9:e90019.
15. Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med. 2008;358:900–9.
16. Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet. 2008;40:204–10.
17. Han JW, Zheng HF, Cui Y, Sun LD, Ye DQ, et al. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet. 2009;41:1234–7.
18. Stahl EA, Raychaudhuri S, Remmers EF, Xie G, Eyre S, et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet. 2010;42:508–14.
19. Ito I, Kawasaki A, Ito S, Kondo Y, Sugihara M, et al. Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population. Ann Rheum Dis. 2010;69:936–7.
20. Ito I, Kawaguchi Y, Kawasaki A, Hasegawa M, Ohashi J, et al. Association of the FAM167A-BLK region with systemic sclerosis. Arthritis Rheum. 2010;62:890–5.
21. Lessard CJ, Li H, Adrianto I, Ice JA, Rasmussen A, et al. Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjogren’s syndrome. Nat Genet. 2013;45:1284–92.
22. Nordmark G, Kristjansdottir G, Theander E, Appel S, Eriksson P, et al. Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjogren’s syndrome. Genes Immun. 2011;12:100–9.
23. Kikuchi Y, Koarada S, Tada Y, Ushiyama O, Morito F, et al. Difference in B cell activation between dermatomyositis and polymyositis: analysis of the expression of RP105 on peripheral blood B cells. Ann Rheum Dis. 2001;60:1137–40.
24. Krystufkova O, Vallerskog T, Helmers SB, Mann H, Putova I, et al. Increased serum levels of B cell activating factor (BAFF) in subsets of patients with idiopathic inflammatory myopathies. Ann Rheum Dis. 2009;68:836–43.
25. Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts). N Engl J Med. 1975;292:344–7.
26. Bohan A, Peter JB. Polymyositis and dermatomyositis (second of two parts). N Engl J Med. 1975;292:403–7.
27. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997;40:1725.
28. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum. 1988;31:315–24.
29. Preliminary criteria for the classification of systemic sclerosis (scleroderma). Subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee. Arthritis Rheum. 1980;23:581–90.
30. Vitali C, Bombardieri S, Jonsson R, Moutsopoulos HM, Alexander EL, et al. Classification criteria for Sjogren’s syndrome: a revised version of the European criteria proposed by the American-European Consensus Group. Ann Rheum Dis. 2002;61:554–8.
31. Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR. Mixed connective tissue disease—an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med. 1972;52:148–59.
32. Sontheimer RD. Would a new name hasten the acceptance of amyopathic dermatomyositis (dermatomyositis sine myositis) as a distinctive subset within the idiopathic inflammatory dermatomyopathies spectrum of clinical illness? J Am Acad Dermatol. 2002;46:626–36.
33. Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet. 2006;38:209–13.
34. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics. 2003;19:149–50.
35. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263–5.
36. Dalakas MC. Polymyositis, dermatomyositis and inclusion-body myositis. N Engl J Med. 1991;325:1487–98.
37. Dalakas MC, Sivakumar K. The immunopathologic and inflammatory differences between dermatomyositis, polymyositis and sporadic inclusion body myositis. Curr Opin Neurol. 1996;9:235–9.
38. Mastaglia FL, Phillips BA. Idiopathic inflammatory myopathies: epidemiology, classification, and diagnostic criteria. Rheum Dis Clin N Am. 2002;28:723–41.
39. Dymecki SM, Zwollo P, Zeller K, Kuhajda FP, Desiderio SV. Structure and developmental regulation of the B-lymphoid tyrosine kinase gene blk. J Biol Chem. 1992;267:4815–23.
40. Tretter T, Ross AE, Dordai DI, Desiderio S. Mimicry of pre-B cell receptor signaling by activation of the tyrosine kinase Blk. J Exp Med. 2003;198:1863–73.