Association between IL-4 gene polymorphisms, IL-4 serum levels, and ankylosing spondylitis

Area of Science:

• Immunogenetics
• Rheumatology
• Human Genetics

Background:

• Ankylosing spondylitis (AS) is a chronic inflammatory disease.
• Interleukin-4 (IL-4) plays a crucial role in immune responses.
• Genetic variations in IL-4 may influence AS susceptibility and pathogenesis.

Purpose of the Study:

• To investigate the association between two common IL-4 polymorphisms (rs2243250 and rs2227282) and AS risk in the Chinese population.
• To examine the effect of these polymorphisms on serum IL-4 levels in AS patients.

Main Methods:

• Case-control study involving 420 AS patients and 330 healthy controls.
• Genotyping of IL-4 rs2243250 and rs2227282 using standard methods.
• Measurement of serum IL-4 concentrations in study participants.
• Statistical analysis including Hardy-Weinberg equilibrium, odds ratios, and confidence intervals.

Main Results:

• The TC+TT genotypes and T allele of rs2243250 were significantly associated with increased AS risk (P < 0.001).
• The GG genotype and G allele of rs2227282 were also correlated with a higher risk of AS (P < 0.009).
• AS patients with the rs2243250 TT genotype had lower serum IL-4 levels, while those with the rs2227282 CC genotype had higher levels.

Conclusions:

• IL-4 gene polymorphisms rs2243250 and rs2227282 are risk factors for AS in the Chinese population.
• These polymorphisms are associated with altered serum IL-4 levels, potentially contributing to AS pathogenesis.
• Further research is warranted to elucidate the precise mechanisms linking IL-4 variations to AS.