The programmed cell death 1 gene 7209 C>T polymorphism is associated with the risk of systemic lupus erythematosus in the Polish population

Clin Exp Rheumatol. 2008 May-Jun;26(3):457-60.

Abstract

Numerous investigations indicated that the programmed cell death 1 (PDCD1) gene polymorphisms contribute to the development of systemic lupus erythematosus (SLE). However, their association with SLE has been found to be controversial. Therefore, in patients with SLE (n=102) and controls (n=140) we examined the association of six polymorphisms of this gene with susceptibility to SLE in the Polish population. We found that PDCD1 7209 CT or 7209 TT genotype exhibited 3.282-fold increased risk of SLE (95% CI=1.553 - 6.935; p=0.0017). The allele and genotype frequencies of the remaining polymorphisms: 5708 C>T, 6438 G>A, 7146 G>A and 8737 G>A did not exhibit statistical differences between SLE patients and controls. Our results confirmed the association of 7209 C>T polymorphism of PDCD1 gene with SLE that was previously observed in the Taiwanese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antigens, CD / genetics*
  • Apoptosis Regulatory Proteins / genetics*
  • Case-Control Studies
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Lupus Erythematosus, Systemic / ethnology*
  • Lupus Erythematosus, Systemic / genetics*
  • Middle Aged
  • Poland
  • Polymorphism, Single Nucleotide / genetics*
  • Programmed Cell Death 1 Receptor
  • Risk Factors

Substances

  • Antigens, CD
  • Apoptosis Regulatory Proteins
  • PDCD1 protein, human
  • Programmed Cell Death 1 Receptor