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Sickle cell anemia, vaso-occlusive crisis, splenic sequestration, SOD2 polymorphism
The SOD2 polymorphism Val16Ala TàC influences the antioxidative response. This study investigated the association of the SOD2 polymorphism and superoxide dismutase (SOD) activity with vaso-occlusive crisis (VOC) and acute splenic sequestration (ASS) in children with sickle cell anemia (SCA). One hundred ninety-five children aged 1-9 years old were analyzed. The TC and CC genotypes were associated with lower SOD activity compared with the TT genotype (p=0.0321; p=0.0253, respectively). Furthermore, TC/CC were more frequent in patients with VOC or ASS (p=0.0285; p=0.0090, respectively). These results suggest that the SOD2 polymorphism associated with low SOD activity could be involved in SCA physiopathology.
2. Conran N, Franco-Penteado CF, Costa FF. Newer aspects of the pathophysiology of sickle cell disease vaso-occlusion. Hemoglobin 2009;33:1–16.
3. Amer J, Fibach E. Chronic oxidative stress reduces the respiratory burst response of neutrophils from beta-thalassaemia patients. Br J Haematol 2005;129:435–441.
4. Martim RCG, Li Y, Liu Q, Jensen NS, Barker F, Doll MA, Hein DW. Manganese superoxide dismutase V16A single-nucleotide polymorphism in the mitochondrial targeting sequence is associated with reduced enzymatic activity in cryopreserved human hepatocytes. DNA Cell Biol 2009;28:3–7.
5. Sutton A, Imbert A, Igoudjil A, Descatoire V, Cazanave S, Pessayre D, Degoul F. The manganese superoxide dismutase Ala16Val dimorphism modulates both mitochondrial import and mRNA stability. Pharmacogenet Genomics 2005;15:311–319.
6. Bastaki M, Huen K, Manzanillo P, Chande N, Chen C, Balmes JR, Tager IB, Hollanda N. Genotype–activity relationship for Mn-superoxide dismutase, glutathione peroxidase 1 and catalase in humans. Pharmacogenet Genomics 2006;16:279–286.
7. Schacter L, Warth JA, Gordon EM, Prasad A, Klein BL. Altered amount and activity of superoxide dismutase in sickle cell anemia. FASEB J 1988;2:237–243.
8. Ambrosone CB, Ahn J, Singh KK, Rezaishiraz H, Furberg H, Sweeney C, Coles B, Trovato A. Polymorphisms in genes related to oxidative stress (MPO, MnSOD, CAT) and survival after treatment for breast cancer. Cancer Res 2005;65:1105–1111.
9. Iida R, Tsubota E, Takeshita H, Yasuda T. Multiplex single base extension method for simultaneous genotyping of non-synonymous SNP in the three human SOD genes. Electrophoresis 2008;29:4788–4794.
10. Sogut S, Yonden Z, Kaya H, Oktar S, Tutanc M, Yilmaz HR, Yigit A, Ozcelik N, Gali E. Ala-9Val polymorphism of Mn-SOD gene in sickle cell anemia. Genet Mol Res 2011;10:828–833.
11. Croizat H. Circulating cytokines in sickle cell patients during steady state. Br J Haematol 1994;87:592–597.
12. Wang SS, Davis S, Cerhan JR, Hartge P, Severson RK, Cozen W, Lan Q, Welch R, Chanock SJ, Rothman N. Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma. Carcinogenesis 2006;27:1828–1834.
13. Hong YC, Lee KH, Yi CH, Ha EH, Christiani DC. Genetic susceptibility of term pregnant women to oxidative damage. Toxicol Lett 2002;129:255–262.
14. Park SY, Lee KH, Kang D, Lee KH, Ha EH, Hong YC. Effect of genetic polymorphisms of MnSOD and MPO on the relationship between PAH exposure and oxidative DNA damage. Mutat Res 2006;593:108–115.
15. Manfredini V, Lazzaretti LL, Griebeler IH, Santin AP, Brandão VD, Wagner S, Castro SM, Peralba MdoC, Benfato MS. Blood antioxidant parameters in sickle cell anemia patients in steady state. J Natl Med Assoc 2008;100:897–902.