Relationship between the IL-4 gene promoter -590C/T (rs2243250) polymorphism and susceptibility to autoimmune diseases: a meta-analysis

• Published in: Journal of the European Academy of Dermatology and Venereology 2015-01, Vol.29 (1), p.48-55
• Main Authors: Qiu, L.-J., Ni, J., Cen, H., Wen, P.-F., Zhang, M., Liang, Y., Pan, H.-F., Mao, C., Ye, D.-Q.
• Format: Article
• Language: English
• Subjects: Arthritis, Rheumatoid - ethnology; Arthritis, Rheumatoid - genetics; Autoimmune Diseases - ethnology; Autoimmune Diseases - genetics; Diabetes Mellitus, Type 1 - genetics; Genetic Predisposition to Disease; Graves Disease - ethnology; Graves Disease - genetics; Humans; Interleukin-4 - genetics; Lupus Erythematosus, Systemic - genetics; Multiple Sclerosis - genetics; Polymorphism, Single Nucleotide; Promoter Regions, Genetic
• ISSN: 0926-9959; 1468-3083
• DOI: 10.1111/jdv.12435

Objective Studies investigating the association between interleukin (IL)‐4 gene promoter ‐590C/T (rs2243250) polymorphism and autoimmune diseases report conflicting results. To derive a more precise estimation of the relationship, a meta‐analysis was performed. Methods A systematic literature search was conducted to identify relevant studies. Pooled odds ratio (OR) with 95% confidence interval (CI) was used to estimate the strength of association. Results A total of 6001 cases and 6788 controls from 24 studies were analysed. Significant association of the C allele of IL‐4 rs2243250 polymorphism with rheumatoid arthritis (RA) was detected (odds ratio (OR) = 0.696, 95% confidence interval (CI) = 0.601–0.807). Stratification by ethnicity indicated an association between the IL‐4 rs2243250 polymorphism and RA in Caucasians. Furthermore, the overall ORs of the associations between the C allele and multiple scleorosis (MS) were 1.340 (95% CI = 1.102–1.630). However, we failed to reveal any association between IL‐4 rs2243250 polymorphism and systemic lupus erythematosus (SLE), type 1 diabetes (T1D) or Graves' disease (GD). Conclusions The present study suggests that the IL‐4 rs2243250 polymorphism might be associated with genetic susceptibility to autoimmune diseases, including RA and MS.