Association between variable number tandem repeats within the 3' flanking region of the interleukin-6 gene and systemic lupus erythematosus in Korean patients

Lupus. 2011 Oct;20(11):1161-5. doi: 10.1177/0961203311405704. Epub 2011 Jun 23.

Abstract

Variable number tandem repeat (VNTR) polymorphism located in the 3' flanking region of the interleukin-6 (IL-6) gene was examined in Koreans with systemic lupus erythematosus (SLE). We identified 15 VNTR alleles (K1 to K15) in the 3' flanking region by Genescan analysis. The VNTR K8 allele, a 648-base pair (bp) allele, was most commonly found in Koreans, being present in 74.8% of the SLE patients and 70.3% of the normal controls. The VNTR K9 (642 bp) allele was associated with susceptibility to SLE. In addition, the VNTR K9 was significantly associated with leukopenia (p = 0.048), thrombocytopenia (p = 0.020), and elevated C-reactive protein (p = 0.019). These data suggest that the VNTR K9 in the 3' flanking region of the IL-6 gene may be associated with disease susceptibility and the clinical phenotypes of SLE.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Flanking Region
  • Adult
  • Alleles
  • Asian People / genetics
  • Base Sequence
  • Case-Control Studies
  • DNA Primers / genetics
  • Female
  • Genetic Association Studies
  • Humans
  • Interleukin-6 / genetics*
  • Lupus Erythematosus, Systemic / genetics*
  • Lupus Erythematosus, Systemic / immunology*
  • Male
  • Middle Aged
  • Minisatellite Repeats*
  • Republic of Korea
  • Young Adult

Substances

  • DNA Primers
  • IL6 protein, human
  • Interleukin-6