title: Association between Ala-9Val polymorphism of Mn-SOD gene and schizophrenia.
abstract: Reactive oxygen species (ROS) have been suggested to play an important role in physiopathology of schizophrenia. The major intracellular antioxidant enzymes, copper-zinc superoxide dismutase in the cytoplasm and manganese superoxide dismutase (Mn-SOD) in the mitochondria, rapidly and specifically reduce superoxide radicals to hydrogen peroxide. Polymorphisms in the genes encoding antioxidant enzymes should therefore result in predisposition to schizophrenia. The present study was performed to assess whether there is a genetic association between a functional polymorphism (Ala-9Val) in the human Mn-SOD gene in schizophrenic patients (n=153) and healthy controls (n=196) using a PCR/RFLP method. Significant differences in the genotypic distribution between schizophrenics and controls were observed. Genotypic distribution with 14 (9.2%) Ala/Ala, 106 (69.3%) Ala/Val and 33 (21.6%) Val/Val subjects in schizophrenia was different from those of controls with 46 (23.5%), 83 (42.3%) and 67 (34.2%), respectively (p<0.0001). When the patients with schizophrenia were divided into the subgroups as disorganized, paranoid and residual, there was a significant difference in genotypic distribution among the subgroups (chi2=11.35, df=4, p=0.023). This association between -9Ala Mn-SOD allele and schizophrenia suggests that -9Ala variant may have a contribution in the physiopathogenesis of schizophrenia. Further investigations are warranted in larger populations with other susceptible genes that might be associated with schizophrenia.
authors.affiliation: Department of Medical Biology and Genetics, Firat University Medical School, Elazig, Turkey. oakyol@hacettepe.edu.tr
authors.forename: Omer
authors.initials: O
authors.lastname: Akyol
authors.forename: Medaim
authors.initials: M
authors.lastname: Yanik
authors.forename: Halit
authors.initials: H
authors.lastname: Elyas
authors.forename: Mustafa
authors.initials: M
authors.lastname: Namli
authors.forename: Halit
authors.initials: H
authors.lastname: Canatan
authors.forename: Haluk
authors.initials: H
authors.lastname: Akin
authors.forename: Huseyin
authors.initials: H
authors.lastname: Yuce
authors.forename: H Ramazan
authors.initials: HR
authors.lastname: Yilmaz
authors.forename: Hamdi
authors.initials: H
authors.lastname: Tutkun
authors.forename: Sadik
authors.initials: S
authors.lastname: Sogut
authors.forename: Hasan
authors.initials: H
authors.lastname: Herken
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Ozyurt
authors.forename: Haluk Asuman
authors.initials: HA
authors.lastname: Savas
authors.forename: Suleyman Salih
authors.initials: SS
authors.lastname: Zoroglu
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D014150:Antipsychotic Agents / Q000009:adverse effects / Q000627:therapeutic use; D001921:Brain / Q000201:enzymology; D004409:Dyskinesia, Drug-Induced / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018384:Oxidative Stress / Q000502:physiology; D011110:Polymorphism, Genetic / Q000235:genetics*; D017382:Reactive Oxygen Species; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012559:Schizophrenia / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D014150:Antipsychotic Agents; D017382:Reactive Oxygen Species; D013482:Superoxide Dismutase