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Oestrogen receptor {alpha} gene polymorphisms in systemic lupus erythematosus
M Johansson1, L Arlestig, B Möller
1Department of Rheumatology, University Hospital, SE-901 85 Umeå, Sweden.
Annals of the Rheumatic Diseases
|April 9, 2005
Summary
Specific estrogen receptor alpha (ORalpha) gene variants are linked to milder lupus (SLE) with skin issues and later onset. These findings may help predict disease course and guide treatment strategies for SLE patients.
Area of Science:
- Genetics and Immunology
- Rheumatology
Background:
- Systemic lupus erythematosus (SLE) is a complex autoimmune disease with variable clinical manifestations.
- Estrogen receptor alpha (ORalpha) gene polymorphisms have been investigated for their potential role in SLE susceptibility and disease characteristics.
Purpose of the Study:
- To investigate the association between two specific ORalpha gene polymorphisms (PvuII T/C and XbaI A/G) and clinical features in a cohort of SLE patients from northern Sweden.
Main Methods:
- Genotyping of PvuII T/C and XbaI A/G polymorphisms in the ORalpha gene was performed on 260 SLE patients and 670 controls.
- Clinical data, including ACR criteria, SLEDAI score, and SLICC damage index, were collected and analyzed for genotype-phenotype correlations.
Main Results:
- The PvuII C allele was associated with malar rash and later SLE onset.
- The XbaI G allele was linked to photosensitivity and a lower SLICC damage index.
- The XbaI AA genotype correlated with serositis, cognitive impairment, and angina/coronary artery bypass.
Conclusions:
- Specific ORalpha gene polymorphisms, particularly the PvuII C and XbaI G alleles, are associated with a milder phenotype of SLE.
- These genetic variations may influence disease presentation, including skin manifestations, age of onset, and overall organ damage.