AI Article Synopsis
- The study investigates the genetic link between the PDCD1 gene and Wegener's granulomatosis (WG), a type of autoimmune disorder.
- The researchers analyzed three specific SNPs in the PDCD1 gene among patients with WG and healthy controls, using methods like genotyping and ELISA.
- Ultimately, they found no significant association of the PDCD1 SNPs with WG, indicating that these genetic factors may not play a role in the disease.
Article Abstract
Genetic association of programmed cell death-1 (PDCD1) has been implicated in several autoimmune inflammatory disorders. Hence, in this study, our main objective is to evaluate the association of PDCD1 gene to Wegener's granulomatosis (WG). We, thus, analyzed three single nucleotide polymorphisms (SNPs) in PDCD1 gene among WG patients and controls. Further, we quantified circulating serum levels of soluble (s) PD-1 in patients and controls. The methodologies used were ABI Taqman allelic discrimination and restriction fragment length polymorphism for genotyping and in-house ELISA for quantifying sPD-1. Statistical relevance was analyzed by Fischer's exact test. As a result, reduced AA homozygote for SNP in intron-1 was observed, among the patients. However, no association was demonstrated after Bonferroni correction. Also, no differences in genotype and allele frequency were elucidated for SNPs in intron-4 and exon-5. Moreover, we could not demonstrate circulating sPD-1. In conclusion, we show no association of selected SNPs in PDCD1 gene with WG.
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| http://dx.doi.org/10.1007/s00296-009-0952-1 | DOI Listing |
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