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Published on: June 15, 2011
[Functional polymorphism of manganese superoxide dismutase (MnSOD) gene correlates with schizophrenia in Polish
Piotr Gałecki1, Tadeusz Pietras, Janusz Szemraj
1Uniwersytet Medyczny w Lodzi, Klinika Psychiatrii i Zaburzeń Nerwicowych z Oddziałem Interwencji Kryzysowych. galeckipiotr@o2.pl
Unlabelled:
Neuro-developmental theory paid attention to an apoptosis role and reactive oxygen species (ROS) in schizophrenia pathogenesis. ROS concentration in cells is maintained on a low level due to manganese superoxide dismutase activity (MnSOD).
The Aim Of The Work:
An attempt of evaluation of Ala-9Val polymorphism in gene for MnSOD in schizophrenic patients and control group was undertaken.
Material And Methods:
122 paranoid schizophrenia patients were asked to the study. Clinical evaluation were performed by using PANSS.
Results:
Alleles layout in control group (Val 45.95%) and an under-study group (Val 73.77%) was statistically different. Genotype layout also differentiated the groups. The under-study group: Ala/Ala--10.65%, Val/Ala--31.15%, Val/Val--58.2%; and in the control group respectivelly: 37.84%, 32.43%, 29.73%. relative risk for developing schizophrenia in people having in their polymorphism for MnSOD genotype Val-9Val is over three times (RR = 3.29) higher than for people not having this genotype. While evaluating correlations between a genotype, frequency of Ala-9Val allele polymorphism and social - demographic and clinical data of schizophrenic patients, no statistically substantial correlations were observed, even though there was a close to gravity correlation between a genotype Val-9Val and negative disease symptoms (p = 0.075).
Conclusions:
1. In Polish populations there is a statistically substantial associations between schizophrenia incidence a genotype Val-9Val in gene for MnSOD. 2. The lack of association between selected social - demographic and clinical factors of schizophrenic patients and Ala-9Val polymorphism in a gene for MnSOD. 3. Risk for developing schizophrenia in people having Val-9Val genotype in a gene for MnSOD is over three times higher than for people not having this very genotype.
Insights
Schizophrenia risk is significantly higher in individuals with the Val-9Val genotype of the manganese superoxide dismutase (MnSOD) gene. This genetic variation, linked to oxidative stress, may play a role in schizophrenia pathogenesis.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Context:
- Schizophrenia pathogenesis involves apoptosis and reactive oxygen species (ROS).
- Manganese superoxide dismutase (MnSOD) activity regulates cellular ROS levels.
- The Ala-9Val polymorphism in the MnSOD gene is investigated for its association with schizophrenia.
Purpose:
- To evaluate the association between the Ala-9Val polymorphism in the MnSOD gene and schizophrenia in a Polish population.
Summary:
- A study of 122 paranoid schizophrenia patients and a control group revealed statistically significant differences in MnSOD genotype and allele frequencies.
- The Val-9Val genotype was found in 58.2% of patients versus 29.73% of controls.
- Individuals with the Val-9Val genotype have over a threefold increased risk (RR = 3.29) of developing schizophrenia.
Impact:
- This research identifies a significant genetic risk factor for schizophrenia in the Polish population.
- The Val-9Val genotype in the MnSOD gene is strongly associated with schizophrenia incidence.
- Findings contribute to understanding the role of oxidative stress in schizophrenia neurodevelopment.
Related Concept Videos
Biological Causes of Schizophrenia
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin studies.
Pleiotropy
Single Nucleotide Polymorphisms-SNPs