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Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus

Martin Johansson1, Lisbeth Arlestig, Bozena Möller

  • 1University Hospital, Umeå, and Sunderbyn Hospital, Luleå, Sweden.

Arthritis and Rheumatism
|June 4, 2005
PubMed

Insights

The PD-1.3A allele is linked to kidney problems in patients with systemic lupus erythematosus (SLE), but not to developing SLE itself. This finding is specific to SLE patients in northern Sweden.

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Human Genetics

Background:

  • Systemic lupus erythematosus (SLE) is a complex autoimmune disease with diverse clinical manifestations.
  • Genetic factors play a role in SLE susceptibility and disease phenotype.
  • The PDCD1 gene, encoding programmed cell death protein 1 (PD-1), is a potential candidate gene for autoimmune diseases.

Purpose of the Study:

  • To investigate the association of the PD-1.3 polymorphism (PDCD1 gene) with SLE in a northern Swedish population.
  • To determine if the PD-1.3A allele is linked to specific disease manifestations and severity in SLE patients.

Main Methods:

  • A case-control study involving 260 SLE patients and 670 healthy controls from northern Sweden.
  • Genotyping for the PD-1.3 A/G polymorphism using an ABI Prism 7900HT Sequence Detection System.
  • Assessment of disease activity and damage using the SLEDAI and SLICC/ACR indices.

Main Results:

  • No significant difference in allele, carrier, or genotype frequencies of PD-1.3 between SLE patients and controls.
  • The PD-1.3A allele showed a significant association with renal disorder (kidney involvement) in SLE patients (P = 0.005).
  • Carriage of the PD-1.3A allele was also associated with proteinuria and renal damage in SLE patients.

Conclusions:

  • The PD-1.3A allele is specifically associated with renal manifestations in SLE patients from northern Sweden.
  • The PD-1.3 polymorphism does not appear to influence susceptibility to developing SLE in this population.
Abstract

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