RGD Reference Report - Coding sequence 1 and promoter single nucleotide polymorphisms in the CTLA-4 gene in Wegener's granulomatosis. - Rat Genome Database

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Coding sequence 1 and promoter single nucleotide polymorphisms in the CTLA-4 gene in Wegener's granulomatosis.

Authors: Giscombe, R  Wang, X  Huang, D  Lefvert, AK 
Citation: Giscombe R, etal., J Rheumatol. 2002 May;29(5):950-3.
RGD ID: 7204724
Pubmed: PMID:12022356   (View Abstract at PubMed)

OBJECTIVE: To analyze the association of Wegener's granulomatosis (WG) with 2 single nucleotide polymorphisms (SNP), a +49 A/G polymorphism in coding sequence (CDS) 1 and a C/T base exchange in the promoter region at position -318. METHODS: Restriction enzyme digestion of PCR amplified genomic DNA was used to analyze the CTLA-4 SNP in 32 patients with WG and 100-122 ethnically matched healthy controls. RESULTS: Patients were more often heterozygous for C/T in the promoter region (31% of the patients vs 14% of controls; p < 0.05). Homozygosity for C was less frequent in patients (69% of patients vs 86% of controls; p < 0.05). There was no association with the A/G SNP in CDS 1. There was a linkage disequilibrium between allele A of CDS 1 and the shortest allele, 86 bp, in the (AT)n of the 3' untranslated region in controls but not in patients. CONCLUSION: The CTLA-4 SNP in the promoter region at position -318 is associated with WG. The loss of linkage disequilibrium between allele A of CDS 1 and the short 86 bp in the (AT)n in patients indicates that the promoter SNP and the (AT)n polymorphism are independent genetic risk factors.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CTLA4Humangranulomatosis with polyangiitis  IAGP DNA:polymorphisms:promoter more ...RGD 
Ctla4Ratgranulomatosis with polyangiitis  ISOCTLA4 (Homo sapiens)DNA:polymorphisms:promoter more ...RGD 
Ctla4Mousegranulomatosis with polyangiitis  ISOCTLA4 (Homo sapiens)DNA:polymorphisms:promoter more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ctla4  (cytotoxic T-lymphocyte-associated protein 4)

Genes (Mus musculus)
Ctla4  (cytotoxic T-lymphocyte-associated protein 4)

Genes (Homo sapiens)
CTLA4  (cytotoxic T-lymphocyte associated protein 4)


Additional Information