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Association of caspase-1 gene polymorphisms with rheumatoid arthritis risk in a Chinese Han population

Yizhen Liu1, Xing Jia1, Zhicheng Yang1

  • 1Department of Orthopedics, The Affiliated Changzhou No. 2 People's Hospital of Nanjing Medical University, Changzhou 213003, China.

Cytokine
|December 13, 2022
PubMed

Insights

Genetic variations in the caspase-1 (CASP1) gene are linked to increased rheumatoid arthritis (RA) risk in Chinese Han individuals. Higher CASP1 expression was observed in RA patients, suggesting its role in the disease.

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Rheumatoid arthritis (RA) is a chronic autoimmune disease with complex etiology.
  • The role of genetic factors, specifically caspase-1 (CASP1) gene polymorphisms, in RA pathogenesis requires further investigation.

Purpose of the Study:

  • To determine the association between CASP1 gene polymorphisms (rs2409062 A/G) and the risk of rheumatoid arthritis (RA).
  • To explore the relationship between CASP1 genetic variations and clinical characteristics of RA in a Chinese Han population.
  • To evaluate CASP1 mRNA and protein expression levels in RA patients compared to healthy controls.

Main Methods:

  • Genotyping of CASP1 rs2409062 A/G polymorphism using a custom-by-design 48-Plex SNP scan™ Kit in 1095 healthy controls and 805 RA patients.
  • Quantitative real-time PCR (qRT-PCR) to measure CASP1 mRNA expression in 40 RA cases and 40 controls.
  • Enzyme-linked immunosorbent assay (ELISA) to quantify plasma CASP1 protein levels in 40 RA cases and 40 paired controls.

Main Results:

  • The CASP1 rs2409062 A/G polymorphism was significantly associated with an elevated risk of RA.
  • Stratified analysis revealed a higher RA risk in females, individuals aged ≥55, CRP-positive patients, and those with DAS28 < 3.20.
  • RA patients exhibited significantly higher plasma CASP1 protein and mRNA expression levels compared to healthy controls (P < 0.05).

Conclusions:

  • The CASP1 rs2409062 A/G gene polymorphisms contribute to an increased risk of rheumatoid arthritis in the Chinese Han population.
  • Elevated CASP1 expression at both mRNA and protein levels in RA patients suggests its involvement in disease development.
  • CASP1 genetic variations and expression may serve as potential biomarkers for RA risk and progression.

Keywords:
Caspase-1PolymorphismsRheumatoid arthritisSNP

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