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Oxygen free radical scavenger enzyme polymorphisms in systemic sclerosis
Mohammed Tikly1, Sara E Marshall, Neil A Haldar
1Department of Medicine, Chris Hani Baragwanath Hospital, and the University of the Witwatersrand, Johannesburg, South Africa. tiklym@medicine.wits.ac.za
Free Radical Biology & Medicine
|May 12, 2004
Summary
Genetic variations in glutathione S-transferase (GST) and manganese superoxide dismutase (MnSOD) may influence systemic sclerosis (SSc) risk in South Africans. Lower GSTM1*B frequency suggests a protective effect against SSc.
Area of Science:
- Genetics
- Immunology
- Biochemistry
Background:
- Systemic sclerosis (SSc) is an autoimmune disease with complex etiology.
- Oxidative stress is implicated in SSc pathogenesis.
- Genetic predisposition may play a role in SSc development.
Purpose of the Study:
- To investigate the association between polymorphisms of glutathione S-transferase (GST) isoenzymes and manganese superoxide dismutase (MnSOD) and systemic sclerosis (SSc) in black South Africans.
- To explore potential genetic factors contributing to oxidative stress in SSc.
Main Methods:
- A case-control study design was employed.
- Polymorphisms of GST isoenzymes (GSTM1) and MnSOD were analyzed.
- Genotype and phenotype frequencies were compared between SSc patients and healthy controls.
Main Results:
- A significantly decreased frequency of the GSTM1*B phenotype was observed in the overall SSc group compared to controls (OR=0.19, p(corr)<.05), suggesting a protective role.
- A trend towards increased MnSOD Ala allele and phenotype frequencies was noted in the diffuse cutaneous SSc subset (OR=2.11 and 3.15, respectively, p(corr)<.1).
Conclusions:
- Findings suggest that GST and MnSOD genetic variations are distributed differently in healthy Africans.
- Specific GST and MnSOD polymorphisms may contribute to the risk or protection against systemic sclerosis.
- Genetic factors likely play a role in oxidative stress pathways relevant to SSc.