99 283

Cited 6 times in

The interleukin 6 receptor alpha gene polymorphisms are associated with clinical manifestations of systemic lupus erythematosus in Koreans.

Jeon, JY; Kim, KY; Kim, HA; Suh, CH
International journal of immunogenetics, 40(5):356-360, 2013
Journal Title
International journal of immunogenetics
The human interleukin 6 receptor consists of two membrane-bound glycoproteins (IL-6Rα, IL-6RA and gp130/IL-6Rβ, 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-6RA in Korean patients with systemic lupus erythematosus (SLE) (n = 300) and normal controls (NC, n = 299). Three SNPs were identified in the IL-6RA 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 HT2 [ATC]. These data suggest that genetic polymorphisms of IL-6RA gene may be associated with disease phenotypes of SLE in Korean.
MeSH terms
AdultExanthema/geneticsFemaleGene FrequencyGenetic Predisposition to DiseaseHaplotypesHumansLupus Erythematosus, Systemic/*geneticsLymphopenia/geneticsMalePolymorphism, Single NucleotideReceptors, Interleukin-6/*geneticsRepublic of Korea
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Rheumatology
AJOU Authors
전, 자영김, 현아서, 창희
Full Text Link
Files in This Item:
There are no files associated with this item.
RIS (EndNote)
XLS (Excel)


해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.