title: The association between BANK1 and TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis.
abstract: The past decade has witnessed hundreds of reports declaring or not being able to replicable genetic association with systemic lupus erythematosus (SLE) susceptibility. BANK1 is a gene that encodes a B-cell-specific scaffold protein and its activation can affect B-cell-receptor-induced calcium mobilization from intracellular calcium stores. TNFAIP3 encodes the ubiquitin-modifying enzyme, also known as A20, which is a cytoplasmic zinc finger protein that inhibits nuclear factor kappa-B (NFKB) activity and tumour necrosis factor (TNF)-mediated programmed cell death. The association of BANK1 and TNFAIP3 polymorphism with SLE has been reported in several studies. The aim of this study was to assess whether combined evidence shows the association between BANK1 and TNFAIP3 polymorphism and SLE. We report the results of a meta-analysis of genome-wide association scans and replication in independent sets for BANK1 and TNFAIP3 polymorphism and SLE that includes 12,416 subjects with SLE and 19,113 control subjects. Meta-odds ratios (ORs) and 95% confidence intervals (CIs) based on random effects models. Both of BANK1 and TNFAIP3 harbour several controversial single nucleotide polymorphisms (SNPs). We selected and identified three SNPs of BANK1 associated with SLE (rs17266594, P = 1.949e-10; OR = 1.380; 95% CI: 1.250-1.525; rs10516487, P = 2.642e-13; OR = 1.317; 95% CI: 1.223-1.417; rs3733197, P = 3.452e-06; OR = 1.193; 95% CI: 1.107-1.286); one SNP of TNFAIP3 associated with SLE (rs2230926, P = 1.502e-12; OR = 1.826; 95% CI: 1.545-2.157). This meta-analysis demonstrates a significant association between BANK1 and TNFAIP3 gene polymorphism and SLE in multiple ethnic populations. These findings reinforce the value of large sample series for discovery and follow-up of genetic variants contributing to the aetiology of SLE.
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Fan
authors.forename: J-H
authors.initials: JH
authors.lastname: Tao
authors.forename: L-P
authors.initials: LP
authors.lastname: Zhang
authors.forename: L-H
authors.initials: LH
authors.lastname: Li
authors.forename: D-Q
authors.initials: DQ
authors.lastname: Ye
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000483:Alleles; D004268:DNA-Binding Proteins; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C447641:BANK1 protein, human; D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D009687:Nuclear Proteins; C076529:TNFAIP3 protein, human; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3