title: IAN5 polymorphisms are associated with systemic lupus erythematosus.
abstract: Systemic lupus erythematosus (SLE) is a representative autoimmune disease, which is frequently associated with lymphopenia. Biobreeding (BB) rat is a typical animal model which develops autoimmune diseases with lymphopenia which results from a frame-shift mutation in the immune-associated nucleotide (IAN) 5 gene. IAN5 is involved in the regulation of T-cell activation and survival. To examine the association of IAN5 gene with SLE, we scrutinised the single nucleotide polymorphisms (SNPs) in the IAN5 gene. We conducted a case-control study where 132 SLE patients, 505 rheumatoid arthritis (RA) patients, and 546 controls were genotyped for four SNPs in the IAN5 gene. Two SNPs (+2071C > T and +2677G > A) were associated with susceptibility to SLE (P = 0.040 and 0.045, respectively), and -4432G > A SNP was associated with the development of leukopenia (P = 0.028) and the requirement of steroid pulse therapy (P = 0.040) in SLE patients. Haplotype analyses showed that Ht1(CTCG) was associated with susceptibility to SLE (P = 0.036), and Ht4(ACCG), Ht5(ACTA) and Ht6(GCCG) were associated with the development of nephritis (P = 0.017, 0.019, 0.022, respectively). In conclusion, the IAN5 polymorphisms were associated with susceptibility to SLE and the development of clinical disease manifestations in a strictly Korean population.
authors.affiliation: Department of Medicine, School of Medicine and Medical Sciences Research Institute, Eulji University, 302-799 Daejeon, South Korea.
authors.forename: M K
authors.initials: MK
authors.lastname: Lim
authors.forename: D H
authors.initials: DH
authors.lastname: Sheen
authors.forename: S A
authors.initials: SA
authors.lastname: Kim
authors.forename: S K
authors.initials: SK
authors.lastname: Won
authors.forename: S-S
authors.initials: SS
authors.lastname: Lee
authors.forename: S-C
authors.initials: SC
authors.lastname: Chae
authors.forename: H-T
authors.initials: HT
authors.lastname: Chung
authors.forename: S C
authors.initials: SC
authors.lastname: Shim
mesh_terms: D000818:Animals; D001172:Arthritis, Rheumatoid / Q000235:genetics / Q000276:immunology; D044466:Asian People / Q000235:genetics; D019204:GTP-Binding Proteins / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007723:Korea; D015810:Linkage Disequilibrium; D008180:Lupus Erythematosus, Systemic / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D051381:Rats; D011919:Rats, Inbred Strains; D013256:Steroids / Q000627:therapeutic use
chemical_list: C484030:GIMAP5 protein, human; D013256:Steroids; D019204:GTP-Binding Proteins