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Polymorphisms in PDCD1 gene are not associated with Wegener’s granulomatosis

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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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Acknowledgments

Financial supports were obtained from the European Commission, the fifth framework Program, Swedish Research Council, the foundations of the Karolinska Institute and Palle Ferb Foundation. Our heartfelt thanks to all the participants including blood donors.

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Authors and Affiliations

  1. Rheumatology Unit, Department of Medicine, Center for Molecular Medicine (L8:04), Karolinska Institutet, 17176, Stockholm, Sweden

    Priya Sakthivel, Ricardo Giscombe, Ryan Ramanujam & Ann Kari Lefvert

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  1. Priya Sakthivel
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  2. Ricardo Giscombe
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  3. Ryan Ramanujam
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  4. Ann Kari Lefvert
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Correspondence to Priya Sakthivel.

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Sakthivel, P., Giscombe, R., Ramanujam, R. et al. Polymorphisms in PDCD1 gene are not associated with Wegener’s granulomatosis. Rheumatol Int 29, 1247–1250 (2009). https://doi.org/10.1007/s00296-009-0952-1

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  • DOI: https://doi.org/10.1007/s00296-009-0952-1

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