Association between PDCD1 gene polymorphisms and psoriasis susceptibility in the Chinese population

Int J Dermatol. 2021 Nov;60(11):1411-1417. doi: 10.1111/ijd.15665. Epub 2021 May 31.

Abstract

Background: As an immune regulator expressed on the surface of activated T cells, programmed cell death 1 (PDCD1) plays an important role in psoriasis. However, whether PDCD1 genetic polymorphism is associated with psoriasis has yet to be explored.

Objective: To study the association between polymorphisms of the immune-related gene PDCD1 and psoriasis susceptibility in the Chinese population, to illustrate the genetic mechanism of psoriasis and provide new research ideas for the diagnosis and treatment of psoriasis (PS).

Methods: Overall, 128 psoriasis patients and 88 healthy controls were included in this study. Using polymerase chain reaction (PCR)-Sanger sequencing analysis, six PDCD1 single nucleotide polymorphisms (SNPs) were sequenced: PD1.1, PD1.3, PD1.4, PD1.5, PD1.6, and PD1.9.

Results: Among the six tested SNPs, PD1.6 showed a significant association with psoriasis in genotype and allele frequency distribution. The G allele of PD1.6 increased the risk of psoriasis (P = 0.03). In contrast, the other five SNPs failed to show association with psoriasis. Further analysis within the patient group showed that the frequency of the PD1.6 G allele was relatively high in severe psoriasis, but the difference was nonsignificant.

Conclusion: PDCD1 gene polymorphism is associated with psoriasis. The population carrying PD1.6 allele G are at a higher risk of developing psoriasis, though the severity of psoriasis does not correlate with PD1.6 polymorphism.

MeSH terms

  • China
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Humans
  • Polymorphism, Single Nucleotide*
  • Programmed Cell Death 1 Receptor* / genetics
  • Psoriasis / genetics*

Substances

  • PDCD1 protein, human
  • Programmed Cell Death 1 Receptor