Studies of the Association of Genetic Polymorphism C677T in the Methylenetetrahydrofolate Reductase Gene with Symptom Se
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Studies of the Association of Genetic Polymorphism C677T in the Methylenetetrahydrofolate Reductase Gene with Symptom Severity in Schizophrenia Patients G. I. Korovaitseva, M. V. Gabaeva, and V. E. Golimbet
Translated from Zhurnal Nevrologii i Psikhiatrii imeni S. S. Korsakova, Vol. 120, No. 3, Iss. 1, pp. 48–52, March, 2020. Original article submitted July 5, 2019. Accepted December 6, 2019. Objective. To study the association of the C677T polymorphism of the MTHFR gene with the risk of developing schizophrenia in a large cohort including patients with schizophrenia and mentally healthy people and to investigate the association of this polymorphism with the severity of schizophrenia symptoms and the simultaneous effects of genetic variants and environmental factors on these symptoms. Materials and methods. The genotyping cohort consisted of 1357 schizophrenia patients and 711 controls. Symptom severity was evaluated on the PANSS. Environmental factors were birth complications and history of traumatic brain injury. Results and conclusions. No association was found between the C677T polymorphism of the MTHFR gene and schizophrenia. There was no genotype effect on symptom severity on PANSS subscales. The interaction between the polymorphism of interest and environmental factors had no effect on the severity of schizophrenia symptoms. These results do not support data from a number of investigations of an association between the C677T polymorphism of the MTHF gene and schizophrenia Keywords: MTHFR gene, C677T polymorphism, genotype-environmental interactions, schizophrenia, symptoms.
The gene encoding MTHFR is located on chromosome 1p36.22. The C677T polymorphism of the MTHFR gene is a substitution of a cytosine (C) nucleotide by thymine (T), resulting in substitution of an alanine residue by valine (Ala222Val) in the part of the enzyme molecule responsible for binding folic acid. Accumulation of homocysteine in the blood and decreases in neuron activity are seen in carriers of the TT genotype of the C677T polymorphic marker of MTHFR [8]. Studies in several ethnic groups have shown that this genotype is encountered at significantly higher frequency in schizophrenia patients [4, 9, 10]. However, an association was not found in all studies [11–13]. Attempts have also been made to link this polymorphism with the clinical features of schizophrenia [6]. No studies have been reported on the influences of the interaction between genetic variants at the C677T locus and environmental factors associated with the risk of schizophrenia on the level of symptom severity. The aim of the present work was to seek associations between the C677T polymorphism of MTHFR with the risk
Schizophrenia is a multifactorial mental disease whose cause is a complex interaction between inherited components, possible perinatal complications, and the actions of later environmental risk factors, such as birth complications and histories of traumatic brain injury (TBI) [1–3]. Data from a number of authors show that schizophrenia patients have a highe
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