CCR5-Delta32: implications in SLE development
C Carvalho1, S L Calvisi, B Leal
1UMIB, Instituto de Ciências Biomédicas de Abel Salazar (ICBAS) UPorto, Porto, Portugal.
International Journal of Immunogenetics
|October 30, 2013
Summary
The CCR5∆32 gene variant appears to protect against systemic lupus erythematosus (SLE), a complex autoimmune disease. Lower frequencies of this variant were found in SLE patients, suggesting a potential therapeutic target.
Area of Science:
- Immunology
- Genetics
- Rheumatology
Background:
- Systemic lupus erythematosus (SLE) is an autoimmune disease influenced by genetic and environmental factors.
- Elevated chemokine levels are observed in active SLE.
- C-C chemokine receptor type 5 (CCR5) plays a role in inflammatory cell recruitment.
Purpose of the Study:
- To investigate the association between the CCR5∆32 polymorphism and SLE in a Portuguese cohort.
- To determine if CCR5∆32 allele frequency differs between SLE patients and healthy controls.
Main Methods:
- Case-control study design.
- Genotyping of the CCR5∆32 polymorphism in 219 SLE patients and 205 healthy controls.
- Statistical analysis to compare allele frequencies and assess association (Odds Ratio, P-value).
Main Results:
- The frequency of CCR5/∆32 heterozygotes was significantly lower in SLE patients (8%) compared to controls (15%).
- An odds ratio of 0.5162 (P = 0.0319) indicated a protective association.
- This suggests the CCR5∆32 allele may confer resistance to SLE development.
Conclusions:
- The CCR5∆32 allele demonstrates a protective association with systemic lupus erythematosus.
- These findings underscore the potential role of CCR5-expressing Th1 cells in SLE pathogenesis.
- Further research into CCR5 modulation could offer therapeutic insights for SLE.
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