AI Article Synopsis
- The study investigates the link between Wegener's granulomatosis (WG) and two specific single nucleotide polymorphisms (SNPs).
- Findings show that patients with WG are more likely to be heterozygous for a C/T SNP in the promoter region, while homozygosity for C is less frequent compared to healthy controls.
- The research concludes that the promoter SNP is associated with WG, and that genetic factors may operate independently, as indicated by changes in linkage disequilibrium in patients.
Article Abstract
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.
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