Association study of TRAF1-C5 polymorphisms with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese

Abstract

Association of TRAF1-C5 locus with RA susceptibility was detected in the Japanese populations with modest magnitude, while no significant association was observed for SLE. Significant positive effect of genotype on the expression of TRAF1 might support the genetic association between TRAF1 and RA.

TRAF1/C5, eNOS, C1q, but not STAT4 and PTPN22 gene polymorphisms are associated with genetic susceptibility to systemic lupus erythematosus in Turkey

“…Although data collected from populations around the world suggests that this polymorphic allele represents a genuine susceptibility allele, this SNP did not exhibit any significant association with SLE either in a Japanese population [12] or in a Colombian population [13]. Interestingly, the frequency of the risk allele A of the TRAF1/C5 SNP in the healthy controls from Turkey was remarkably similar (36.5%), as compared with previously reported frequencies of Spanish (36%) [11] or Dutch (40%) controls [14].…”

Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk

“…Protein levels will influence systemic complement activity, as will polymorphisms in other complement proteins. For example, fI-and fH-related proteins are associated with AMD (43,44), whereas polymorphisms in C5/TRAF1 are associated with rheumatoid arthritis and systemic lupus erythematosus (45,46). Complement dysregulation often manifests in inflammatory diseases when there are "multiple hits," exemplified in aHUS where two or three hits in the complement cascade are required to trigger pathology (47).…”

Associations between TNFSF4 and TRAF1-C5 gene polymorphisms and systemic lupus erythematosus: A meta-analysis

“…Thus, fourteen studies were considered in this metaanalysis [10][11][12][13][14][15][16][17][18][19][20][21][22] (Table 1). Three of the eligible studies contained data on SLE patients from three different ancestral backgrounds [14,20,21]. All groups were treated independently during the analysis.…”

“…Associations between single-nucleotide polymorphisms (SNPs) of TNFSF4 and TRAF1-C5 and SLE have been reported in different ethnic groups [10][11][12][13][14][15][16][17][18][19][20][21][22]. Typically, the allelic frequencies of genes often differ substantially in different ethnic groups, and thus, ethnically specific association studies are required to determine genetic associations in different populations [23][24][25].…”