RGD Reference Report - Interleukin-18 and interferon-gamma polymorphisms in Brazilian human immunodeficiency virus-1-infected patients presenting with lipodystrophy syndrome. - Rat Genome Database

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

Authors: Castelar, L  Silva, MM  Castelli, EC  Deghaide, NH  Mendes-Junior, CT  Machado, AA  Donadi, EA  Fernandes, AP 
Citation: Castelar L, etal., Tissue Antigens. 2010 Aug;76(2):126-30. doi: 10.1111/j.1399-0039.2010.01471.x. Epub 2010 Mar 14.
RGD ID: 8655915
Pubmed: PMID:20331838   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1399-0039.2010.01471.x   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
HIV-Associated Lipodystrophy Syndrome susceptibilityIAGP 8655915DNA:SNPs and haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)RGD 
HIV-Associated Lipodystrophy Syndrome susceptibilityISOIL18 (Homo sapiens)8655915; 8655915DNA:SNPs and haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il18  (interleukin 18)

Genes (Mus musculus)
Il18  (interleukin 18)

Genes (Homo sapiens)
IL18  (interleukin 18)


Additional Information