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

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.