Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population
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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.
KeywordsAssociation BANK1 Dermatomyositis Polymyositis rs3733197
We thank all IIM patients and healthy controls involved in the study.
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).
Compliance with ethical standards
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.
- 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 75:1558–1566CrossRefGoogle 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:R69CrossRefGoogle 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) 50:473–480CrossRefGoogle 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 69:700–705CrossRefGoogle 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 92:41–51CrossRefGoogle 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:e1000841CrossRefGoogle 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 23:581–590Google Scholar
- 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 61:554–558CrossRefGoogle 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 33:639–646Google Scholar