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Association between the interferon regulatory factor 5 rs2004640 functional polymorphism and systemic lupus
11 Department of Rheumatology, Department of Internal Medicine, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Lupus
|April 26, 2019
Summary
The interferon regulatory factor 5 (IRF5) rs2004640 polymorphism is linked to systemic lupus erythematosus (SLE) susceptibility across diverse ethnicities. Its prevalence varies significantly by population group.
Area of Science:
- Genetics and Immunology
Background:
- Systemic lupus erythematosus (SLE) is a complex autoimmune disease with a significant genetic component.
- Interferon regulatory factors (IRFs) play a crucial role in immune responses and have been implicated in autoimmune diseases.
- The IRF5 gene, particularly the rs2004640 polymorphism, is a candidate for influencing SLE susceptibility.
Purpose of the Study:
- To investigate the association between the functional IRF5 rs2004640 polymorphism and susceptibility to SLE.
- To evaluate this association across multiple ethnic populations.
Main Methods:
- A comprehensive meta-analysis was performed on data from 28 comparative studies.
- Included were 20,892 patients and 24,930 controls, examining the T allele of the IRF5 rs2004640 polymorphism.
- Analyses were conducted on the overall cohort and stratified by ethnicity.
Main Results:
- The meta-analysis revealed a significant association between the IRF5 rs2004640 polymorphism and SLE in the overall population (OR=1.472, p<0.001).
- Prevalence of the T allele differed by ethnicity, being lowest in Asians (28%) and highest in Europeans (52%).
- Stratified analysis confirmed a significant association of the T allele with SLE in European, Asian, Latin American, and Arab populations.
Conclusions:
- The IRF5 rs2004640 polymorphism is confirmed as a risk factor for SLE susceptibility.
- The study highlights the significant impact of ethnicity on the prevalence of this genetic polymorphism.
- These findings underscore the importance of considering ethnic background in SLE genetic research.
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