title: Ala-9Val polymorphism of Mn-SOD gene in sickle cell anemia.
abstract: Oxidative stress may be contributory to the pathophysiology of the abnormalities that underlie the clinical course of sickle cell anemia. We looked for a possible genetic association between the functional polymorphism Ala-9Val in the human Mn-SOD gene and sickle cell anemia. One hundred and twenty-seven patients with sickle cell anemia and 127 healthy controls were recruited into the study. Alanine versus valine polymorphism in the signal peptide of the Mn-SOD gene was evaluated using a primer pair to amplify a 107-bp fragment followed by digestion with the restriction enzyme NgoMIV. In the sickle cell anemia patients, the frequency of Val/Val genotype was approximately 1.4-fold lower and that of Ala/Val was 1.3-fold higher compared to the controls. No significant difference in genotype frequencies was found between patients and controls (χ(2) = 4.561, d.f. = 2, P = 0.101). The Val-9 was the most common allele in patient and healthy subjects. No significant difference in allele frequencies was found between patients and controls (χ(2) = 1.496, d.f. = 1, P = 0.221). We conclude that the Mn-SOD gene polymorphism is not associated with sickle cell anemia.
authors.affiliation: Department of Biochemistry, Medical Faculty of Bezmialem Vakif University, İstanbul, Turkey. sadiksogut2@hotmail.com
authors.forename: S
authors.initials: S
authors.lastname: Sogut
authors.forename: Z
authors.initials: Z
authors.lastname: Yonden
authors.forename: H
authors.initials: H
authors.lastname: Kaya
authors.forename: S
authors.initials: S
authors.lastname: Oktar
authors.forename: M
authors.initials: M
authors.lastname: Tutanc
authors.forename: H R
authors.initials: HR
authors.lastname: Yilmaz
authors.forename: A
authors.initials: A
authors.lastname: Yigit
authors.forename: N
authors.initials: N
authors.lastname: Ozcelik
authors.forename: E
authors.initials: E
authors.lastname: Gali
mesh_terms: D000293:Adolescent; D000328:Adult; D000409:Alanine / Q000235:genetics; D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D000755:Anemia, Sickle Cell / Q000201:enzymology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D018384:Oxidative Stress; D011110:Polymorphism, Genetic; D013482:Superoxide Dismutase / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D014633:Valine / Q000235:genetics
chemical_list: D013482:Superoxide Dismutase; D014633:Valine; D000409:Alanine