Polymorphisms in PDCD1 gene are not associated with aplastic anemia in Chinese Han population

Rheumatol Int. 2012 Oct;32(10):3107-12. doi: 10.1007/s00296-011-2127-0. Epub 2011 Sep 17.

Abstract

Programmed cell death 1 (PD-1) has recently been reported to have a genetic association in several autoimmune diseases. The object of this study was to investigate the association of PD-1 polymorphisms with aplastic anemia (AA) in the Chinese Han population. In a case-control association study, three single-nucleotide polymorphisms (SNP), PD-1.3 G/A, PD-1.5 C/T, and PD-1.9 T/C, were genotyped in 166 AA patients and 264 healthy controls using polymerase chain reaction-restriction fragment length polymorphism assay. All genotype distributions in the patients and the controls were in Hardy-Weinberg equilibrium. The associations of genotypes and alleles with AA were analyzed. No differences in genotype and allele frequencies were elucidated for SNPs in intron 4 and exon 5. In conclusion, we show no association of selected SNPs in PDCD1 gene with AA in the Chinese Han population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Aplastic / ethnology
  • Anemia, Aplastic / genetics*
  • Asian People / genetics*
  • Case-Control Studies
  • Chi-Square Distribution
  • China / epidemiology
  • Exons
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Introns
  • Male
  • Middle Aged
  • Odds Ratio
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Programmed Cell Death 1 Receptor / genetics*
  • Risk Assessment
  • Risk Factors
  • Young Adult

Substances

  • PDCD1 protein, human
  • Programmed Cell Death 1 Receptor