title: Manganese superoxide dismutase Ala-9Val mitochondrial targeting sequence polymorphism in systemic lupus erythematosus in Poland.
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.
authors: Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, 6 Swiecickiego St., 60-781 Poznań, Poland.
authors: Adam
authors: A
authors: Sobkowiak
authors: Margarita
authors: M
authors: Lianeri
authors: Mariusz
authors: M
authors: Wudarski
authors: Jan K
authors: JK
authors: Lacki
authors: Paweł P
authors: PP
authors: Jagodziński
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008875:Middle Aged; D011044:Poland; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011928:Raynaud Disease / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D001323:Autoantibodies; D013482:Superoxide Dismutase