Promoter Region Of Monoamine Oxidase A Gene Research Articles

Retraction “Methylation of the MAOA promoter is associated with schizophrenia”

[This retracts the article DOI: 10.21037/atm-20-4481.].

Methylation of the MAOA promoter is associated with schizophrenia.

Earlier studies have shown that patients with schizophrenia have abnormalities in DNA methylation. Monoamine oxidase A (MAOA) has been extensively studied due to its biological role in neurological function. However, the relationship between the DNA methylation of the MAOA gene and schizophrenia is unclear. This study aims to elucidate the relationship between the methylation of the MAOA gene promoter and schizophrenia. There were 151 individuals with schizophrenia (104 males and 47 females), which were diagnosed according to DSM-V, the DNA of peripheral blood of all samples was extracted and chemically modified with bisulfite. The promoter region of MAOA gene was sequenced by Methylation Target Technical Method (MethylTargetTM), and 247 controls (204 males and 43 females) included in the study. MAOA gene promoter methylation was compared between the case and control groups. Meanwhile, we measured DNA methylation in two regions of MAOA (MAOA-2 and MAOA-3). In the male schizophrenia group (BM) and the male control group (DM), MAOA-2 and MAOA-3 methylation were positively associated with schizophrenia. In the female schizophrenia group (BF) and the female control group (DF), MAOA-2 methylation was associated with schizophrenia. Although the role of gene methylation in the development of schizophrenia is still unclear, our findings suggest that DNA methylation of MAOA may contribute to the onset of schizophrenia.

Analysis of promoter polymorphism in monoamine oxidase A (MAOA) gene in completed suicide on Slovenian population

Suicide is a well-defined public health problem and is a complex phenomenon influenced by a number of different risk factors, including genetic ones. Numerous studies have examined serotonin system genes. Monoamine oxidase A (MAO-A) is an outer mitochondrial membrane enzyme which is involved in the metabolic pathway of serotonin degradation. Upstream variable number of tandem repeats (uVNTR) in the promoter region of MAOA gene affects the activity of transcription. In the present study we genotyped MAOA-uVNTR polymorphism in 266 suicide victims and 191 control subjects of Slovenian population, which ranks among the European and world populations with the highest suicide rate. Genotyping was performed with polymerase chain reaction and agarose gel electrophoresis. Using a separate statistical analysis for female and male subjects we determined the differences in genotype distributions of MAOA-uVNTR polymorphism between the studied groups. Statistical analysis showed a trend towards 3R allele and suicide, and associated 3R allele with non-violent suicide method on stratified data (20 suicide victims). This is the first study associating highly suicidal Slovenian population with MAOA-uVNTR polymorphism.

A functional polymorphism in the promoter region of MAOA gene is associated with daytime sleepiness in healthy subjects

Excessive daytime sleepiness (EDS) is one of the main causes of car and industrial accidents and it is associated with increased morbidity and alterations in quality of life. Prevalence of EDS in the general population around the world ranges from 6.2 to 32.4%, with a heritability of 38–40%. However, few studies have explored the role of candidate genes in EDS. Monoamine oxidase A (MAOA) gene has an important role in the regulation of neurotransmitter levels and a large number of human behaviors. We hypothesized that a functional VNTR in the promoter region of the MAOA gene might be associated with daytime sleepiness in healthy individuals. The Epworth sleepiness scale (ESS) was applied to 210 Colombian healthy subjects (university students), which were genotyped for MAOA-uVNTR. MAOA-uVNTR showed a significant association with ESS scores (p=0.01): 3/3 genotype carriers had the lowest scores. These results were supported by differences in MAOA-uVNTR frequencies between diurnal somnolence categories (p=0.03). Our finding provides evidence for the first time that MAOA-uVNTR has a significant association with EDS in healthy subjects. Finally, these data suggest that functional variations in MAOA gene could have a role in other phenotypes of neuropsychiatric relevance.