Heterozygote AG variant of -596 A/G IL-6 gene polymorphism is a marker for cutaneous T-cell lymphoma (CTCL)

Clin Immunol. 2004 Dec;113(3):256-60. doi: 10.1016/j.clim.2004.08.010.

Abstract

The aim of the study was to investigate possible associations of IL-6 gene polymorphisms (-596 A/G and -174 C/G) with cutaneous T-cell lymphoma (CTCL). In the case-control study, genotype distributions and allelic frequencies in two promoter IL-6 gene polymorphisms in the group of 63 Czech patients with CTCL were compared to those of 105 control non-CTCL subjects matched for age and sex. The IL-6 gene polymorphisms were determined by PCR with following restriction analysis. A significant difference of -596 A/G IL-6 genotype distribution was found between the CTCL patients and the controls (P = 0.002) with almost threefold odds ratio for the heterozygote (AG) genotype in CTCL patients (OR = 2.64, P = 0.002). No significant differences in genotype distribution and/or allelic frequency of functional -174 C/G IL-6 gene polymorphism were observed. The double heterozygote AGCG of both IL-6 promoter polymorphisms was associated with CTCL (OR = 2.24, 95% confidence interval 1.17-4.28, P = 0.01). Thus, the heterozygote variant of -596 A/G promoter IL-6 polymorphism could be considered as a genotype marker for CTCL.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / genetics*
  • Female
  • Gene Frequency
  • Heterozygote*
  • Homozygote
  • Humans
  • Interleukin-6 / genetics*
  • Lymphoma, T-Cell, Cutaneous / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Genetic / genetics*
  • Promoter Regions, Genetic / genetics

Substances

  • Biomarkers, Tumor
  • Interleukin-6