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p21 gene polymorphisms in systemic lupus erythematosus.
E K-P Kong1, W-P Chong, W H-S Wong
1Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Rheumatology (Oxford, England)
|July 14, 2006
Summary
Genetic variations in the p21 gene, specifically the p21US A and p21-1022 A alleles, are linked to the development of systemic lupus erythematosus (SLE). The p21US A allele also shows an association with arthritis in SLE patients.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- Cyclin-dependent kinase inhibitor 1A (p21) acts as a cell cycle regulator.
- Previous studies indicated p21's potential role in systemic lupus erythematosus (SLE) susceptibility.
- Sex-linked lupus-like syndrome in p21-/- mice and reduced p21 expression in SLE patients suggested this link.
Purpose of the Study:
- To investigate the association between p21 gene polymorphisms and SLE.
- To explore the relationship between p21 variants and SLE disease phenotypes.
- To analyze p21 mRNA expression in relation to specific genotypes.
Main Methods:
- A case-control association study was conducted.
- Six single nucleotide polymorphisms (SNPs) in the p21 gene were genotyped in 516 SLE patients and 693 healthy controls.
- Haplotype construction, linkage disequilibrium analysis, and p21 mRNA expression analysis were performed.
Main Results:
- Significant associations were found between the p21US A allele (OR=0.23) and p21-1022 A allele (OR=1.95) and SLE.
- Specific haplotypes (ht1-ACACCC and ht2-GCACCC) containing these alleles showed significant differences between patients and controls.
- The p21US GA genotype was associated with arthritis in SLE patients, and differential p21 mRNA expression was observed across genotypes.
Conclusions:
- The p21US A and p21-1022 A alleles are associated with SLE development.
- The p21US A allele is linked to arthritis in SLE patients.
- These findings support p21 as a susceptibility gene for SLE.