title: Genetic variation in the interleukin-10 gene promoter in Polish patients with systemic lupus erythematosus.
abstract: Identification of susceptibility genes in systemic lupus erythematosus (SLE) has recently become a topic of interest. The IL-10 promoter contains three single base-pair substitutions at -627C > A, -854C > T and -1117G > A. These single base-pair substitutions produce three different haplotypes, GCC, ACC and ATA, which affect IL-10 expression. We examined the distribution of -627C > A, -854C > T and -1117G > A IL-10 promoter polymorphisms in patients with SLE (n = 103, women only) and matched controls (n = 300). Despite the higher prevalence of the GCC/GCC, GCC/ATA and ATA/ATA genotypes in SLE patients than in controls, we observed that only GCC/GCC genotype frequency distribution was significant between these groups. We observed that women with the GCC/GCC genotype displayed an approximately twofold increased risk of SLE OR = 2.245 (95% CI = 1.354-3.721, P = 0.0022). We did not find any associations between various genotypes of IL-10 promoter haplotypes and clinical manifestations or autoantibody production in patients with SLE. Our observations indicate that the GCC/GCC promoter genotype may contribute to SLE incidence in Polish patients.
authors.affiliation: Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, 6 Swiecickiego St., 60-781, Poznan, Poland.
authors.forename: Adam
authors.initials: A
authors.lastname: Sobkowiak
authors.forename: Margarita
authors.initials: M
authors.lastname: Lianeri
authors.forename: Mariusz
authors.initials: M
authors.lastname: Wudarski
authors.forename: Jan K
authors.initials: JK
authors.lastname: Łacki
authors.forename: Paweł P
authors.initials: PP
authors.lastname: Jagodziński
mesh_terms: D000328:Adult; D000483:Alleles; D020029:Base Pairing; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics* / Q000276:immunology; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D011044:Poland; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: D016753:Interleukin-10