Rs10954213

From SNPedia

[PMID 18063667] Systemic Lupus Erythematosus rs10488631 rs2004640 rs10954213 and rs729302

[PMID 18311811] Japanese 277 SLE patients and 201 controls. Carriers of the rs2004640T slightly increased among SLE patients (58.8%) as compared with controls (50.2%). When data from our Japanese population were combined with previously published data from a Korean population, the T allele frequency was found to be significantly increased in SLE patients (P = 8.3 x 10(-5)). While no association was observed for the rs10954213 . significant associations with 3 intron 1 SNPs (-4001, rs6953165, and rs41298401) were found. The allele frequency of rs41298401G was significantly decreased in SLE patients (13.0% versus 18.7% in controls; P = 0.017), and the allele frequency of rs6953165G, which was in absolute linkage disequilibrium with -4001A, was increased in SLE patients (8.8% versus 5.2% in controls; P = 0.034). The Caucasian risk haplotype was not present; instead, a protective haplotype carrying rs2004640G, rs41298401G, the deletion in exon 6, and rs10954213A was identified. SNP rs10954213

[PMID 18063667] A variant located 64 bp upstream of the first untranslated exon (exon 1A), consisting of a 5 bp insertion/deletion CGGGG, may be the causative SNP in this region that is most responsible for increasing SLE risk, however it lacks an rs# (i.e. it isn't registered in dbSNP).

[PMID 19479858] Of 3 IRF5 SNPs studied, the rs2280714(A) SNP - and not this one - had the strongest association (odds ratio 1.42, CI: 1.15-1.75) in Japanese SLE patients.

[PMID 19644876] Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome

[PMID 19772658] Exon expression in lymphoblastoid cell lines from subjects with schizophrenia before and after glucose deprivation