Interleukin-18 and interferon-gamma polymorphisms in Brazilian human immunodeficiency virus-1-infected patients presenting with lipodystrophy syndrome

Abstract

Cytokines play important roles in the pathogenesis of lipodystrophy syndrome (LS). Single nucleotide polymorphisms (SNPs) at positions -607(C/A) and -137(C/G) in the promoter region of the interleukin-18 (IL-18) gene and at position +874(T/A) of the interferon-gamma (IFN-gamma) gene are related to the expression of these cytokines. To examine whether IL-18 and IFN-gamma polymorphisms are associated with LS, these SNPs were genotyped in 88 human immunodeficiency virus (HIV)-infected patients presenting LS, 79 HIV-infected without LS, and 133 healthy controls. The -607A allele, -607AA genotype, and -137G/-607A and -137C/-607A haplotypes in the IL-18 gene were over-represented in HIV patients presenting LS. The -137G/-607C haplotype was associated with protection against LS. These results indicate that the -607(C/A) SNP is associated with LS development in HIV-infected patients.

IL-18 polymorphisms in hepatitis B virus related liver disease

“…In various populations, IL-18 gene promoter polymorphism at either -607 or -137 position, or both has been shown to be associated in many diseases. For example Systemic lupus erythematosus [25], Rheumatoid arthritis [26], Hepatocellular carcinoma [31], Human immunodeficiency virus (HIV) [38], Gastrointestinal cancers [39], and viral infections like Hepatitis C (HCV) [36,37] (Table 6). …”

Body changes: antiretroviral therapy and lipodystrophy syndrome in people living with HIV/aids

“…The pathogenicity of LS has been under study for over 10 years, and various factors have been identified as contributing to its development, such as gender, age, duration and seriousness of infection with HIV-1 (2,16) , and the use of antiretroviral therapy (1)(2) , in addition to the influence of the inflammatory cytokine genes in patients with LS on ARVT (17) .…”

Pharmacogenetics of the lipodystrophy syndrome associated with HIV infection and combination antiretroviral therapy

“…The -137G/-607C haplotype was associated with protection against lipodystrophy. The results of this study suggest that the polymorphism -607C > A in the IL-18 gene is associated with lipodystrophy in HIV-infected patients treated with antiretroviral drugs [62].…”

“…In IL-18 genetic variants, the only investigation published assessed whether SNPs were seen at positions -607(C > A) and -137(C > G) in the promoter region of the IL-18 gene [62]. Genetic variants of IFNg were also assessed (see later).…”