title: Heterozygote AG variant of -596 A/G IL-6 gene polymorphism is a marker for cutaneous T-cell lymphoma (CTCL).
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.
authors.affiliation: Institute of Pathological Physiology, Faculty of Medicine, Masaryk University, 662 43 Brno, Czech Republic. Vasku.Julie @seznam.cz
authors.forename: Julie Anna
authors.initials: JA
authors.lastname: Vasku
authors.forename: Anna
authors.initials: A
authors.lastname: Vasku
authors.forename: Monika
authors.initials: M
authors.lastname: Goldbergova
authors.forename: Vladimir
authors.initials: V
authors.lastname: Vasku
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D016410:Lymphoma, T-Cell, Cutaneous / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; D015850:Interleukin-6