Effect of Interferon-γ Polymorphisms on Ankylosing Spondylitis: A Case-Control Study

Area of Science:

• Immunogenetics
• Rheumatology
• Molecular Biology

Background:

• Ankylosing spondylitis (AS) is a chronic inflammatory disease.
• The role of interferon-gamma (IFN-γ) in AS pathogenesis is not fully understood.
• Genetic variations in IFN-γ may influence susceptibility to AS.

Purpose of the Study:

• To investigate the association between IFN-γ gene polymorphisms and expression and AS susceptibility in a Chinese population.
• To determine if specific IFN-γ genotypes are linked to altered IFN-γ serum levels in AS patients.

Main Methods:

• Genotyping of IFN-γ polymorphisms (rs1861493, rs2430561) using PCR and sequencing.
• Analysis of genotype distribution and Hardy-Weinberg equilibrium in 89 AS patients and 106 controls.
• Quantification of serum IFN-γ levels via ELISA.
• Statistical analysis using χ² test and odds ratios (OR) with 95% confidence intervals (95%CI).

Main Results:

• The TT genotype and T allele of IFN-γ rs2430561 were significantly more frequent in AS patients than in controls (P=0.04 and P=0.03, respectively).
• rs2430561 polymorphism was associated with an increased risk of AS (OR=2.54 for TT genotype, OR=1.60 for T allele).
• Serum IFN-γ levels were elevated in AS patients, and expression correlated with rs2430561 genotypes.

Conclusions:

• The IFN-γ rs2430561 polymorphism is a potential risk factor for AS in the Chinese population.
• This genetic variation may contribute to AS susceptibility by modulating IFN-γ expression levels.
• Further research is warranted to elucidate the precise mechanisms linking IFN-γ to AS pathogenesis.