Skip to main content

Advertisement

SpringerLink
Log in

Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population

  • Original Article
  • Published:
Clinical Rheumatology Aims and scope Submit manuscript

Abstract

The aim of our study was to investigate the association between single nucleotide polymorphisms (SNPs) in the BANK1 gene and polymyositis/dermatomyositis (PM/DM) in a Chinese Han population. In total, 363 PM patients, 654 DM patients, and 1280 healthy controls were recruited and genotyped using the Sequenom MassArray system. A significant allele association was observed in rs3733197 among the PM/DM patients (OR 0.81, 95%CI 0.70–0.94, Pc = 1.83 × 10−2). Notably, rs3733197 was associated with DM and PM/DM patients with ILD involvement (Pc = 0.026; Pc = 6.0 × 10−3, respectively). However, no statistically significant difference was observed in the allele or genotype frequencies of three SNPs (rs4522865, rs17266594, and rs10516487) among the DM, PM, and PM/DM patients and healthy controls (all Pc > 0.05). This study was the first to demonstrate that a BANK1 gene SNP (rs3733197) could confer genetic predisposition in PM/DM patients and PM/DM patients with ILD in a Chinese Han population.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Rider LG, Miller FW (2011) Deciphering the clinical presentations, pathogenesis, and treatment of the idiopathic inflammatory myopathies. JAMA 305:183–190

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Love LA, Leff RL, Fraser DD, Targoff IN, Dalakas M, Plotz PH, Miller FW (1991) A new approach to the classification of idiopathic inflammatory myopathy: myositis-specific autoantibodies define useful homogeneous patient groups. Medicine (Baltimore) 70:360–374

    Article  CAS  Google Scholar 

  3. Chinoy H, Lamb JA, Ollier WE, Cooper RG (2011) Recent advances in the immunogenetics of idiopathic inflammatory myopathy. Arthritis Res Ther 13:216

    Article  PubMed  PubMed Central  Google Scholar 

  4. Jordan MS, Singer AL, Koretzky GA (2003) Adaptors as central mediators of signal transduction in immune cells. Nat Immunol 4:110–116

    Article  CAS  PubMed  Google Scholar 

  5. Kurosaki T (2002) Regulation of B-cell signal transduction by adaptor proteins. Nat Rev Immunol 2:354–363

    Article  CAS  PubMed  Google Scholar 

  6. Yokoyama K, Su II, Tezuka T, Yasuda T, Mikoshiba K et al (2002) BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP(3) receptor. EMBO J 21:83–92

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Patterson RL, Boehning D, Snyder SH (2004) Inositol 1,4,5-trisphosphate receptors as signal integrators. Annu Rev Biochem 73:437–465

    Article  CAS  PubMed  Google Scholar 

  8. Miller FW, Cooper RG, Vencovsky J, Rider LG, Danko K et al (2013) Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders. Arthritis Rheum 65:3239–3247

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Jani M, Massey J, Wedderburn LR, Vencovsky J, Danko K et al (2014) Genotyping of immune-related genetic variants identifies TYK2 as a novel associated locus for idiopathic inflammatory myopathies. Ann Rheum Dis 73:1750–1752

    Article  PubMed  Google Scholar 

  10. Rothwell S, Cooper RG, Lundberg IE, Miller FW, Gregersen PK, Bowes J, Vencovsky J, Danko K, Limaye V, Selva-O'Callaghan A, Hanna MG, Machado PM, Pachman LM, Reed AM, Rider LG, Cobb J, Platt H, Molberg Ø, Benveniste O, Mathiesen P, Radstake T, Doria A, de Bleecker J, de Paepe B, Maurer B, Ollier WE, Padyukov L, O'Hanlon TP, Lee A, Amos CI, Gieger C, Meitinger T, Winkelmann J, Wedderburn LR, Chinoy H, Lamb JA, Myositis Genetics Consortium (2016) Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. Ann Rheum Dis 75:1558–1566

    Article  CAS  PubMed  Google Scholar 

  11. Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga RM et al (2008) Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 40:211–216

    Article  CAS  PubMed  Google Scholar 

  12. Suarez-Gestal M, Calaza M, Endreffy E, Pullmann R, Ordi-Ros J, Sebastiani G, Ruzickova S, Jose Santos M, Papasteriades C, Marchini M, Skopouli FN, Suarez A, Blanco FJ, D'Alfonso S, Bijl M, Carreira P, Witte T, Migliaresi S, Gomez-Reino JJ, Gonzalez A, the European Consortium of SLE DNA Collections (2009) Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study. Arthritis Res Ther 11:R69

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Guan M, Yu B, Wan J, Zhang X, Wu Z, Zhong Q, Zhang W, Zou H (2011) Identification of BANK1 polymorphisms by unlabelled probe high resolution melting: association with systemic lupus erythematosus susceptibility and autoantibody production in Han Chinese. Rheumatology (Oxford) 50:473–480

    Article  CAS  Google Scholar 

  14. Bentham J, Morris DL, Cunninghame GD, Pinder CL, Tombleson P et al (2015) Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nat Genet 47:1457–1464

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Dieude P, Wipff J, Guedj M, Ruiz B, Melchers I et al (2009) BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4. Arthritis Rheum 60:3447–3454

    Article  CAS  PubMed  Google Scholar 

  16. Rueda B, Gourh P, Broen J, Agarwal SK, Simeon C, Ortego-Centeno N, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi S, Garcia-Hernandez FJ, Carreira P, Camps M, Fernandez-Nebro A, de la Pena PG, Nearney T, Hilda D, Gonzalez-Gay MA, Airo P, Beretta L, Scorza R, Radstake TRDJ, Mayes MD, Arnett FC, Martin J (2010) BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians. Ann Rheum Dis 69:700–705

    Article  CAS  PubMed  Google Scholar 

  17. Orozco G, Abelson AK, Gonzalez-Gay MA, Balsa A, Pascual-Salcedo D et al (2009) Study of functional variants of the BANK1 gene in rheumatoid arthritis. Arthritis Rheum 60:372–379

    Article  CAS  PubMed  Google Scholar 

  18. Zhang X, Fei Z, Wan J, Xu J, Yu B, Guan M (2011) Association analysis of BANK1 gene with psoriasis in southern Han Chinese. Int J Immunogenet 38:507–512

    Article  CAS  PubMed  Google Scholar 

  19. Yang W, Tang H, Zhang Y, Tang X, Zhang J, Sun L, Yang J, Cui Y, Zhang L, Hirankarn N, Cheng H, Pan HF, Gao J, Lee TL, Sheng Y, Lau CS, Li Y, Chan TM, Yin X, Ying D, Lu Q, Leung AMH, Zuo X, Chen X, Tong KL, Zhou F, Diao Q, Tse NKC, Xie H, Mok CC, Hao F, Wong SN, Shi B, Lee KW, Hui Y, Ho MHK, Liang B, Lee PPW, Cui H, Guo Q, Chung BHY, Pu X, Liu Q, Zhang X, Zhang C, Chong CY, Fang H, Wong RWS, Sun Y, Mok MY, Li XP, Avihingsanon Y, Zhai Z, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Gao F, Shotelersuk V, Kang X, Ying SKY, Zhang L, Wong WHS, Zhu D, Fung SKS, Zeng F, Lai WM, Wong CM, Ng IOL, Garcia-Barceló MM, Cherny SS, Shen N, Tam PKH, Sham PC, Ye DQ, Yang S, Zhang X, Lau YL (2013) Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. Am J Hum Genet 92:41–51

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Yang W, Shen N, Ye DQ, Liu Q, Zhang Y, Qian XX, Hirankarn N, Ying D, Pan HF, Mok CC, Chan TM, Wong RWS, Lee KW, Mok MY, Wong SN, Leung AMH, Li XP, Avihingsanon Y, Wong CM, Lee TL, Ho MHK, Lee PPW, Chang YK, Li PH, Li RJ, Zhang L, Wong WHS, Ng IOL, Lau CS, Sham PC, Lau YL, Asian Lupus Genetics Consortium (ALGC) (2010) Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. PLoS Genet 6:e1000841

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Bohan A, Peter JB (1975) Polymyositis and dermatomyositis (first of two parts). N Engl J Med 292:344–347

    Article  CAS  PubMed  Google Scholar 

  22. Bohan A, Peter JB (1975) Polymyositis and dermatomyositis (second of two parts). N Engl J Med 292:403–407

    Article  CAS  PubMed  Google Scholar 

  23. Orens JB, Kazerooni EA, Martinez FJ, Curtis JL, Gross BH, Flint A, Lynch JP 3rd (1995) The sensitivity of high-resolution CT in detecting idiopathic pulmonary fibrosis proved by open lung biopsy. A prospective study. Chest 108:109–115

    Article  CAS  PubMed  Google Scholar 

  24. Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40:1725

    Article  CAS  PubMed  Google Scholar 

  25. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF et al (1988) The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 31:315–324

    Article  CAS  PubMed  Google Scholar 

  26. (1980) 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 23:581–590

  27. Vitali C, Bombardieri S, Jonsson R, Moutsopoulos HM, Alexander EL, Carsons SE, Daniels TE, Fox PC, Fox RI, Kassan SS, Pillemer SR, Talal N, Weisman MH, European Study Group on Classification Criteria for Sjögren’s Syndrome (2002) Classification criteria for Sjogren's syndrome: a revised version of the European criteria proposed by the American-European Consensus Group. Ann Rheum Dis 61:554–558

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR (1972) Mixed connective tissue disease--an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med 52:148–159

    Article  CAS  PubMed  Google Scholar 

  29. Sontheimer RD (2002) 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 46:626–636

    Article  PubMed  Google Scholar 

  30. Chen S, Wang Q, Wu Z, Li Y, Li P, Sun F, Zheng W, Wu Q, Wu C, Deng C, Zhang F, Li Y (2014) Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population. PLoS One 9:e110044

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  31. Chen S, Wu W, Li J, Wang Q, Li Y, Wu Z, Zheng W, Wu Q, Wu C, Zhang F, Li Y (2015) Single nucleotide polymorphisms in the FAM167A-BLK gene are associated with polymyositis/dermatomyositis in the Han Chinese population. Immunol Res 62:153–162

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Wang Q, Chen S, Li Y, Li P, Wu C, Wu Z, Wu Q, Sun F, Li J, Zheng W, Deng C, Zhang F, Li Y (2016) Positive association of genetic variations in the phospholipase C-like 1 gene with dermatomyositis in Chinese Han. Immunol Res 64:204–212

    Article  CAS  PubMed  Google Scholar 

  33. Chen S, Wang Q, Wu CY, Wu QJ, Li Y, Wu ZY, Li P, Sun F, Zheng WJ, Deng CW, Zhang FC, Li YZ (2015) A single-nucleotide polymorphism of CCL21 rs951005 T>C is associated with susceptibility of polymyositis and such patients with interstitial lung disease in a Chinese Han population. Clin Exp Rheumatol 33:639–646

    PubMed  Google Scholar 

  34. Skol AD, Scott LJ, Abecasis GR, Boehnke M (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 38:209–213

    Article  CAS  PubMed  Google Scholar 

  35. Aiba Y, Yamazaki T, Okada T, Gotoh K, Sanjo H, Ogata M, Kurosaki T (2006) BANK negatively regulates Akt activation and subsequent B cell responses. IMMUNITY 24:259–268

    Article  CAS  PubMed  Google Scholar 

  36. Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogné K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Marec HL, Bennett V (2003) Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421:634–639

    Article  CAS  PubMed  Google Scholar 

  37. Blom N, Gammeltoft S, Brunak S (1999) Sequence and structure-based prediction of eukaryotic protein phosphorylation sites. J Mol Biol 294:1351–1362

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

We thank all IIM patients and healthy controls involved in the study.

Funding

This work was supported by funding from the National Natural Science Foundation of China Grants 81373188, the National Science Technology Pillar Program in the 12th 5-year Plan (2014BAI07B00), and the Capital Health Research and Development of Special (2014-1-4011).

Author information

Author notes

  1. Si Chen, Xiaoting Wen and Qian Wang contributed equally to this work.

Authors and Affiliations

  1. Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China

    Si Chen, Xiaoting Wen, Qian Wang, Jing Li, Yuan Li, Liubing Li, Fengchun Zhang & Yongzhe Li

  2. Department of Clinical Laboratory, Beijing Anzhen Hospital, Capital Medical University, Beijing, China

    Si Chen & Hui Yuan

  3. Department of Rheumatology and Clinical Immunology, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1 Shuai Fu Yuan, Eastern District, Beijing, 100730, China

    Yongzhe Li

Authors
  1. Si Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Xiaoting Wen
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Qian Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jing Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Yuan Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Liubing Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Hui Yuan
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Fengchun Zhang
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Yongzhe Li
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Yongzhe Li.

Ethics declarations

This study was approved by the Ethics Committee of the Peking Union Medical College Hospital (Beijing, China). Informed consent was obtained from all individuals participating in this study.

Disclosures

None.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Chen, S., Wen, X., Wang, Q. et al. Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population. Clin Rheumatol 38, 431–436 (2019). https://doi.org/10.1007/s10067-018-4257-1

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10067-018-4257-1

Keywords

Search

Navigation