Association between complement gene polymorphisms and systemic lupus erythematosus: a systematic review and
Hamidreza Ebrahimiyan1,2, Shayan Mostafaei3, Saeed Aslani1
1Rheumatology Research Center, Shariati Hospital, Tehran University of Medical Sciences, Kargar Ave., Tehran, Iran.
Clinical and Experimental Medicine
|September 14, 2021
Summary
Genetic variations in complement genes are linked to systemic lupus erythematosus (SLE) risk. This meta-analysis found ITGAM rs1143679 SNP is associated with increased SLE risk, while MBL rs1800451 SNP is linked to decreased susceptibility.
Area of Science:
- Immunogenetics
- Rheumatology
- Molecular Biology
Background:
- Complement system dysfunction impairs clearance of apoptotic debris, potentially triggering autoantibody production in systemic lupus erythematosus (SLE).
- Gene polymorphisms within complement pathways are investigated for their association with SLE susceptibility.
Purpose of the Study:
- To conduct a comprehensive meta-analysis of complement gene polymorphisms associated with SLE risk.
- To investigate the association between specific polymorphisms in ITGAM, C1q, and MBL genes and SLE susceptibility.
Main Methods:
- A systematic literature search was performed across Scopus, PubMed, and Google Scholar.
- Included studies investigated ITGAM, C1q, and MBL gene polymorphisms in relation to SLE risk across diverse populations.
- Pooled odds ratios (OR) and 95% confidence intervals (CI) were calculated to assess the associations.
Main Results:
- The meta-analysis included 24 studies covering polymorphisms: C1QA rs292001 (4 studies), C1QA rs172378 (5 studies), ITGAM rs1143679 (9 studies), MBL rs1800450 (8 studies), MBL2 rs1800451 (3 studies), and MBL2 rs5030737 (3 studies).
- A significant positive association was identified between the ITGAM rs1143679 single nucleotide polymorphism (SNP) and increased SLE risk.
- The MBL rs1800451 SNP showed a significant association with decreased SLE susceptibility.
Conclusions:
- The ITGAM gene rs1143679 SNP is positively associated with SLE risk.
- The MBL gene rs1800451 SNP is negatively associated with SLE risk, suggesting a protective role.
