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The interleukin 6 receptor alpha gene polymorphisms are associated with clinical manifestations of systemic lupus erythematosus in K oreans
Author(s) -
Jeon J. Y.,
Kim K. Y.,
Kim H. A.,
Suh C. H.
Publication year - 2013
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12041
Subject(s) - haplotype , single nucleotide polymorphism , genotype , snp , exon , immunology , interleukin , lupus erythematosus , biology , gene , immune system , cytokine , microbiology and biotechnology , genetics , antibody
Summary The human interleukin 6 receptor consists of two membrane‐bound glycoproteins ( IL ‐6 R α, IL‐6RA and gp130/ IL ‐6 R β, IL‐6RB ) interacting with IL ‐6, which is a multifunctional cytokine essential to the regulation of the immune response and acute‐phase reactions. We have genotyped a single‐nucleotide polymorphism ( SNP ) of the IL ‐6 RA in K orean patients with systemic lupus erythematosus ( SLE ) ( n = 300) and normal controls ( NC , n = 299). Three SNP s were identified in the IL ‐6 RA gene; ‐208 G≥A ( NM _000565.3:c.‐208G≥A, rs4845617) in the promoter region, 48841 T≥A ( NM _000565.3:c.1067‐17T≥A, rs4845374) in the intron 8 region and 48864 A≥C ( NM _000565.3:c.1073A≥C, rs2228145) in the exon 9 region. There were no differences between the SLE and the NC in the genotype and haplotype frequencies. The 48864 A>C polymorphism was significantly associated with rash ( P = 0.008). Also, the frequency of rash ( P = 0.037), leucopenia ( P = 0.033) and lymphopenia ( P = 0.027) was significantly higher in patients with SLE having the haplotype HT 2 [ ATC ]. These data suggest that genetic polymorphisms of IL ‐6 RA gene may be associated with disease phenotypes of SLE in K orean.