title: Association of +3179G/A insulin-like growth factor-1 receptor polymorphism and insulin-like growth factor-1 serum level with systemic lupus erythematosus.
abstract: The insulin-like growth factor (IGF) system plays a prominent role in the regulation of immunity and inflammation. Inappropriate balance of IGF-1 signaling has been reported in autoimmune disorders. This study was designed to compare +3179G/A IGF-1R genotype distribution in 148 systemic lupus erythematosus (SLE) patients with a group of 240 healthy donors. We also investigated serum IGF-1 levels in SLE patients and healthy controls in an association to genotype. IGF-1 serum levels were measured by enzyme-linked immunosorbent assay and genotyping for the +3179G/A polymorphism was performed by restriction fragment length polymorphisms (RFLP)-polymerase chain reaction (PCR) assay. The higher frequency of homozygous genotype AA (22% vs. 17% with OR 1.319, 95% CI 0.71--2.44) and lower frequency of heterozygous genotype AG (42% vs. 46% with OR 0.698, 95% CI 0.38-1.27) were seen in cases versus controls. Serum IGF-1 levels were comparable between SLE patients and age- and sex-matched healthy donors, even when the groups was stratified according to +3179G/A IGF-1R genotypes. However, when patients were sub grouped according to the disease activity index (SLEDAI score), serum IGF-1 levels were increased in patients with severe disease activity. These results indicated that systemic lupus erythematosus activity is affected by a modulation of the insulin-like growth factor-1 signal pathway and +3179G/A IGF-1R polymorphism.
authors.affiliation: 1Department of Molecular Biology, Immunology and Medical Genetics, Trakia University, Bulgaria.
authors.forename: S A
authors.initials: SA
authors.lastname: Stanilova
authors.forename: M G
authors.initials: MG
authors.lastname: Ivanova
authors.forename: I A
authors.initials: IA
authors.lastname: Karakolev
authors.forename: R M
authors.initials: RM
authors.lastname: Stoilov
authors.forename: R K
authors.initials: RK
authors.lastname: Rashkov
authors.forename: I M
authors.initials: IM
authors.lastname: Manolova
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D002031:Bulgaria; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000032:analysis*; D008180:Lupus Erythematosus, Systemic / Q000097:blood* / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017526:Receptor, IGF Type 1 / Q000235:genetics*; D012307:Risk Factors; D012720:Severity of Illness Index
chemical_list: D015415:Biomarkers; C583557:IGF1 protein, human; D007334:Insulin-Like Growth Factor I; D017526:Receptor, IGF Type 1
keywords: IGF-1; IGF-1R; rs2229765; single nucleotide polymorphism; systemic lupus erythematosus