Erratum: Corrigendum: Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus

Kozyrev, Sergey V.; Abelson, Anna-Karin; Wojcik, Jérôme; Zaghlool, Ammar; Reddy, M.V. Prasad Linga; Sánchez, Elena; Gunnarsson, Iva; Svenungsson, Elisabet; Sturfelt, Gunnar; Jönsen, Andreas; Truedsson, Lennart; Pons-Estel, Bernardo A.; Witte, Torsten; D’Alfonso, Sandra; Barrizzone, Nadia; Danieli, Maria Giovanna; Gutiérrez, Carmen; Junker, Peter; Laustrup, Helle; González‐Escribano, María Francisca; Martín, Javier; Abderrahim, Hadi; Alarcón‐Riquelme, Marta E.

doi:10.1038/ng0408-484

Cited by 8 publications

(14 citation statements)

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“…Colligation of FcgammaRIIb with the BCR results in the abrogation of B-cell activation. Fcgr2b may play a role in the maintenance of peripheral tolerance and its polymorphism is, like that of BANK-1, significantly associated with systemic lupus erythematosus (SLE) (56, 57). This result may reflect an accumulation of inhibitory or inhibited B cells blocked in their switch recombination process.…”

Section: Part I: Regulatory B Cells In Animal Model Of Transplantationmentioning

confidence: 99%

Regulatory B Cells and Tolerance in Transplantation: From Animal Models to Human

et al. 2013

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Until recently, the role of B cells in transplantation was thought to be restricted to producing antibodies that have been clearly shown to be deleterious in the long-term, but, in fact, B cells are also able to produce cytokine and to present antigen. Their role as regulatory cells in various pathological situations has also been highlighted, and their role in transplantation is beginning to emerge in animal, and also in human, models. This review summarizes the different studies in animals and humans that suggest a B-cell regulatory role in the transplant tolerance mechanisms.

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Section: Part I: Regulatory B Cells In Animal Model Of Transplantationmentioning

confidence: 99%

Regulatory B Cells and Tolerance in Transplantation: From Animal Models to Human

et al. 2013

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“…It is important to note that in Chinese population, one candidate gene study found an association between BLK rs13277113A/G and RA (Huang et al, 2017), which was not previously identified in a GWAS (Jiang et al, 2014). GWAS allow the identification of many genes associated with any disease, including RA or other ADs (Gregersen et al, 2009;Freudenberg et al, 2011;Kozyrev et al, 2008;Rodríguez-Elías et al, 2016). However, in these studies, several hundreds or thousands of SNVs are removed, particularly because of their high error rates, such as those with an excess missing genotype (Anderson et al, 2010).…”

Section: Discussionmentioning

confidence: 99%

“…Genetic association to autoimmune diseases (ADs) includes variants of genes coding for proteins involved in B lymphocyte antigen receptor signaling, of which BLK and BANK1 are components of the B-cell signalosome (Suthers and Sarantopoulos, 2017). The BLK protein is a src family nonreceptor tyrosine kinase mainly expressed by B-cells, where besides B-cell receptor signaling, it plays a role in development (Akerblad and Sigvardsson, 1999;Tretter et al, 2003), meanwhile, the BANK1 protein is an adaptor/scaffold primarily expressed in B-lymphocytes, which plays an important role in activation and signaling (Kozyrev et al, 2008;Castillejo-Lopez et al, 2012). It has been shown that BLK, similar to other members of the src family interacts with BANK1 (Castillejo-Lopez et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

“…However, other GWA or candidate gene studies have failed to replicate these findings (Génin et al, 2013;Jiang et al, 2014;Orozco et al, 2014;Bossini-Castillo et al, 2015;Zhu et al, 2016;Julià et al, 2016;Saxena et al, 2017), except in patients from United Kingdom, Colombia, and China (Deshmukh et al, 2011;Orozco et al, 2011;Viatte et al, 2012;Huang et al, 2017). On the other hand, the BANK1 gene, which was identified as an important risk factor for systemic lupus erythematosus (SLE) (Kozyrev et al, 2008), does not appear to be associated with RA through GWA (Gregersen et al, 2009;Freudenberg et al, 2011;Jiang et al, 2014;Orozco et al, 2014;Bossini-Castillo et al, 2015;Julià et al, 2016;Saxena et al, 2017) or candidate gene studies (Suarez-Gestal et al, 2009;Orozco et al, 2011;Génin et al, 2013;Huang et al, 2017), except for the BANK1 rs3733197G/A (Ala383Thr; non-synonymous polymorphism) SNV, which showed an association with RA in Spanish and Argentine patients (Orozco et al, 2009).…”

Section: Introductionmentioning

confidence: 99%

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Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population

et al. 2020

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Introduction: BLK has been identified as a risk factor to rheumatoid arthritis (RA) primarily in Asian or European-derived populations. However, this finding has not been evaluated in other populations such as Latin-Americans, except for Colombians. On the other hand, BANK1 single nucleotide variants (SNVs) have been scarcely studied in RA patients. Objective: The aim of this study was to determine whether the BLK rs2736340T/C, rs13277113A/G, and BANK1 rs10516487G/A (R61H) and rs3733197G/A (A383T) polymorphisms are risk factors to RA in a sample of patients from Central Mexico. Materials and Methods: We studied 957 women; 487 controls and 470 patients with RA by means of a TaqMan® SNP genotyping assay with fluorescent probes for the BLK rs13277113A/G, rs2736340T/C and BANK1 10516487G/A (R61H) and rs3733197G/A (A383T) variants. Result: The BLK rs2736340T/C and rs13277113A/G variants were associated with risk for RA: C vs T; OR 1.39, p = 0.001, and G vs A; OR 1.37, p = 0.004, respectively. In addition, there was also an association between BANK1 R61H and RA: A vs G; OR 1.49, p = 0.003, but no with BANK1 A383T. We also identified an interaction significant between genotypes of BLK rs2736340T/C-BANK1 rs10516487G/A and RA: OR 1.65, p = 0.0001. Conclusions: Our data suggest that both BLK and BANK1 confer susceptibility to RA in Mexican patients. The individual association of BANK1 rs1054857G/A with RA had not been previously reported in a particular population (except for pooled patients from several countries), therefore, our study presents the first evidence of association between this BANK1 variant and RA.

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“…The advent of the genome wide single nucleotide polymorphism (SNP) genotyping technology and the subsequent recent genome wide association studies (GWAS) have greatly expanded the number of established SLE risk alleles [6][7][8] to over twenty; most are located in immune-related pathways such as antigen presentation, B and T-cell receptor signaling and interferon signaling [5]. In less than four years time, STAT4 [9], BANK1 [10], IRF5 [11] and several other genes have been identified as associated with SLE [12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Genetic Factors Contributing to Systemic Lupus Erythematosus in Tunisian Patients

Fourati¹,

Bouzid²,

Abida³

et al. 2012

J Clin Cell Immunol

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Systematic lupus erythematosus (SLE) is a multi system autoimmune disease characterized by autoantibodies production, multi-organ damage and complex genetic inheritance. Multiple genetic and environemental factors contribute to the pathogenesis of this disease. Recent genome-wide studies, have added substantially to the number of genes associated with SLE. We performed a case control study using 138 SNPs in 93 Tunisian patients affected with lupus and 162 healthy controls. All SNPs were genotyped in a Sequenom platform. To confirm some associations, associated SNPs were analyzed using logistic regression which allows the test of association with a given SNP by adjusting for the effect of confounding variables. Association was especially reported with rs3733197 (P=0.0026, OR=2.04), rs17266594 (P=0.046, OR=1.56) in BANK1 gene, rs2070197 (P=0.0016, OR=2.31), rs2004640 (P=0.024, OR=1.54), rs10954213 (P=0.035, OR=1.53) in IRF5 gene and rs7574865 (P=0.017, OR=1.77) in STAT4 gene: previously confirmed SLE susceptibility genes. rs1800629 (P=0.00036, OR=2.26), rs4147359 (P=0.026, OR=1.55) and rs11575812 (P=0.037, OR=1.57) of TNF-α, IR2RA and IL2 genes respectively were also associated with SLE. Haplotypic analysis reported 2 susceptibility haplotypes: TGG (P=0.00421, OR=1.87) in BANK1 and TCA (P=0.00177, OR=2.34) in IRF5 genes. Our results show that numerous genes, some with known immune related function predispose to lupus.

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Erratum: Corrigendum: Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus

Cited by 8 publications

References 1 publication

Regulatory B Cells and Tolerance in Transplantation: From Animal Models to Human

Regulatory B Cells and Tolerance in Transplantation: From Animal Models to Human

Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population

Genetic Factors Contributing to Systemic Lupus Erythematosus in Tunisian Patients

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