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Manganese superoxide dismutase Ala-9Val mitochondrial targeting sequence polymorphism in systemic lupus erythematosus in Poland.

作者信息

Sobkowiak Adam, Lianeri Margarita, Wudarski Mariusz, Lacki Jan K, Jagodziński Paweł P

机构信息

Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, 6 Swiecickiego St., 60-781 Poznań, Poland.

出版信息

Clin Rheumatol. 2008 Jul;27(7):827-31. doi: 10.1007/s10067-007-0796-6. Epub 2007 Dec 19.

DOI:10.1007/s10067-007-0796-6
PMID:18095014
Abstract

Systemic lupus erythematosus (SLE) is a chronic and progressive autoimmune disease in which reactive oxygen species contribute to pathogenesis. We analysed the distribution of manganese superoxide dismutase (MnSOD2) 47C>T (Ala-9Val) functional polymorphic variants within the mitochondrial targeting sequence in SLE patients (n = 102) and controls (n = 199). We did not find significant differences in the distribution of MnSOD2 47C>T polymorphic variants in SLE patients and controls. However, we found that MnSOD2 Val/Val genotype (recessive model) showed a significant association with Raynaud's phenomenon, odds ratio (OR) = 12.000 [95% confidence interval (CI) = 2.315-62.193], p = 0.0015. We also found that the MnSOD2 Val/Val genotype contributes to immunologic manifestations, OR = 2.957 (95% CI = 1.207-7.243), p = 0.0222, and anti-dsDNA antibody presence OR = 3.365 (95% CI = 1.364-8.304), p = 0.0107, in patients. Our observations indicate that MnSOD2 Val/Val variant can be linked to some clinical manifestations in patients with SLE.

摘要

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Polymorphic variants of genes encoding main antioxidant enzymes and the risk of CL/P-affected pregnancies.编码主要抗氧化酶的基因多态性变体与唇腭裂相关妊娠风险
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