Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients

Abstract

Background:The increased expression of B cell-activating factor (BAFF) has been linked to autoantibody production in autoimmune diseases (ADs). The aim of this study was to investigate the association among TNFSF13B gene (OMIM: 603969) single nucleotide polymorphisms (SNPs), TNFSF13B mRNA, and soluble BAFF (sBAFF) expression in patients with rheumatoid arthritis (RA) and primary Sjögren's syndrome (pSS). The diagnostic value of sBAFF also was evaluated by the area under the curve (AUC) of receiver operating characteristic or receptor (ROC) curves. Methods: Genotypes of the TNFSF13B rs9514827 (−2841 T > C), rs1041569 (−2701 A > T) and rs9514828 (−871 C > T) SNPs were determined by PCR-RFLP assay. TNFSF13B mRNA and sBAFF expression were performed by RT-qPCR and ELISA, respectively. The study included 320 RA patients, 101 pSS patients, and 309 healthy subjects (HS).Results: The rs9514828 T allele and the TAT haplotype were associated with an increased risk to develop RA. In both ADs, the TNFSF13B mRNA levels were

Deciphering Cell-types and Gene Signatures Associated with Disease Activity in Rheumatoid Arthritis using Single Cell RNA-sequencing

“…DUSP7 is involved in MAPK signaling and low levels of mRNA of DUSP7 have been associated with RF ACPA positive RA patients(55). TNFSF13B variants have been associated in several studies with RA and also with other auto-immune diseases such as systemic erythematous lupus(56,57)…”

“…DUSP7 is involved in MAPK signaling and low levels of mRNA of DUSP7 have been associated with RF ACPA positive RA patients (55). TNFSF13B variants have been associated in several studies with RA and also with other auto-immune diseases such as systemic erythematous lupus (56,57) We also identified a gene signature of 89 genes specific to disease activity including an upregulation of proinflammatory genes such as JUN, EGR1, IFIT2, IGSF6, TMX1, and MAFB, but also potential genes associated as therapeutic targets or in treatment response such as G0S2, PTGS2, and THBS1. Mafb has been associated with monocytes and macrophage differentiation but also involved in the activation of myeloid cells associated with joint destruction such as RANK+ TLR2-cells in murine models of RA (58,59).…”

Associations between TNFSF13B polymorphisms and primary Sjögren's syndrome susceptibility in primary Sjögren's syndrome patients: A meta‐analysis

“…However, they concluded that TNFSF13B transcript levels in pSS patients were not associated with the SNP rs9514828. 3 Nezos et al concluded that the TNFSF13B polymorphism increased susceptibility to pSS in both high-risk (type I) pSS patients and low-risk (type II) pSS patients compared to that in HCs. 1 In their high-risk group of pSS patients, the frequencies of the CC genotype of rs9514828 and the TT genotype of rs9514827 were statistically different from those of HCs.…”

“…Specifically, the TTTAC haplotype was discovered to enhance pSS susceptibility 2 . Another study showed that TNFSF13B mRNA expression was elevated by 2.43‐fold and 5.04‐fold in patients with RA and pSS compared with healthy controls (HCs), respectively 3 . The findings of a third study suggested that the CTAT haplotype increases disease susceptibility for Ro/La‐positive pSS, but is not linked with high serum BAFF (s‐BAFF) levels.…”

“…The presence of anti‐Ro/SSA autoantibodies has emerged as one of the most well‐established and highly positively correlated risk factors for pSS. Whereas anti‐Ro/SSA autoantibodies lack specificity for SS, many studies have shown that high expression of the BAFF coding gene, tumor necrosis factor (TNF) ligand superfamily member 13B ( TNFSF13B ), is also involved in pSS 1–36 . TNFSF13B/BAFF is a cytokine that belongs to the TNF ligand family.…”