Association of interleukin-4 receptor gene polymorphisms with rheumatoid arthritis in Egyptian female patients

Joint Bone Spine. 2012 Jan;79(1):38-42. doi: 10.1016/j.jbspin.2011.02.017. Epub 2011 Apr 15.

Abstract

Objectives: The imbalance between proinflammatory and anti-inflammatory cytokines is a feature of rheumatoid arthritis (RA). The role of interleukin-4 (IL-4) and its receptor in the pathogenesis of RA is conflicting. We aim to investigate the role of polymorphisms in the IL-4Rα gene in susceptibility and severity of RA.

Methods: One hundred and seventy-two RA patients and 172 controls were enrolled in the study. Genotyping of IL-4Rα I50V (rs1805010) and IL-4Rα Q576R (rs1801275) was determined by restriction fragment length polymorphism-polymerase chain reaction (PCR-RFLP).

Results: IL-4Rα I50V genotype was significantly more frequent in patients with RA than in controls (OR: 1.97, 95% CI: 1-3.7, P: 0.035). Subjects with IL-4Rα V50V genotype were significantly more likely to have erosive arthropathy (OR: 2.6, 95% CI: 1.1-6.1, P: 0.02). The frequencies of IL-4Rα Q576R genotype were significantly decreased in patients with erosive RA compared to patients with nonerosive RA (31.6% versus 48.2%, OR: 2.7, 95% CI: 1-7.7, P: 0.04).

Conclusion: IL-4Rα polymorphisms were associated with susceptibility to RA and may be helpful in early detection of erosive RA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Arthritis, Rheumatoid / diagnosis*
  • Arthritis, Rheumatoid / genetics*
  • Arthritis, Rheumatoid / physiopathology
  • DNA / analysis
  • Egypt
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Health Status
  • Humans
  • Interleukin-4 Receptor alpha Subunit / genetics*
  • Middle Aged
  • Polymorphism, Genetic*
  • Severity of Illness Index

Substances

  • IL4R protein, human
  • Interleukin-4 Receptor alpha Subunit
  • DNA