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M Manca, V Pessoa, P Myers, A Pickles, J Hill, H Sharp, C Murgatroyd, V J Bubb, J P Quinn
Monoamine oxidase-A (MAOA) metabolises monoamines and is implicated in the pathophysiology of psychiatric disorders. A polymorphic repetitive DNA domain, termed the uVNTR (upstream variable number tandem repeat), located at the promoter of the MAOA gene is a risk factor for many of these disorders. MAOA is on the X chromosome suggesting gender could play a role in regulation. We analysed MAOA regulation in the human female cell line, SH-SY5Y, which is polymorphic for the uVNTR. This heterozygosity allowed us to correlate allele specific gene expression with allele specific transcription factor binding and epigenetic marks for MAOA...
April 18, 2018: Genes, Brain, and Behavior
David Checknita, Tomas J Ekström, Erika Comasco, Kent W Nilsson, Jari Tiihonen, Sheilagh Hodgins
Childhood physical abuse (PA) and sexual abuse (SA) interact with monoamine oxidase A (MAOA) gene polymorphism to modify risk for mental disorders. In addition, PA and SA may alter gene activity through epigenetic mechanisms such as DNA methylation, thereby further modifying risk for disorders. We investigated whether methylation in a region spanning the MAOA first exon and part of the first intron was associated with PA and/or SA, MAOA genotype, alcohol dependence, drug dependence, depression disorders, anxiety disorders, and conduct disorder...
March 29, 2018: Journal of Neural Transmission
Maurizio Manca, Veridiana Pessoa, Ana Illera Lopez, Patrick T Harrison, Fabio Miyajima, Helen Sharp, Andrew Pickles, Jonathan Hill, Chris Murgatroyd, Vivien J Bubb, John P Quinn
The monoamine oxidase A (MAOA) uVNTR (upstream variable number tandem repeat) is one of the most often cited examples of a gene by environment interaction (GxE) in relation to behavioral traits. However, MAOA possesses a second VNTR, 500 bp upstream of the uVNTR, which is termed d- or distal VNTR. Furthermore, genomic analysis indicates that there are a minimum of two transcriptional start sites (TSSs) for MAOA, one of which encompasses the uVNTR within the 5' untranslated region of one of the isoforms. Through expression analysis in semi-haploid HAP1 cell lines genetically engineered in order to knockout (KO) either the uVNTR, dVNTR, or both VNTRs, we assessed the effect of the two MAOA VNTRs, either alone or in combination, on gene expression directed from the different TSSs...
March 14, 2018: Journal of Molecular Neuroscience: MN
Katarina Uršič, Tomaž Zupanc, Alja Videtič Paska
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...
March 2, 2018: Neuroscience Letters
Megha Bendre, Erika Comasco, Dave Checknita, Jari Tiihonen, Sheilagh Hodgins, Kent W Nilsson
BACKGROUND: Epigenetic mechanisms are candidate moderators of the effect of maltreatment on brain and behavior. Interactions between maltreatment and the monoamine oxidase A upstream variable number tandem repeat genotype (MAOA-uVNTR) are associated with alcohol-related problems. However, presently it is not known whether DNA methylation moderates this association. The study focused on 53 young adult males and aimed to determine whether MAOA methylation moderated the association of alcohol-related problems with the interaction of MAOA-uVNTR and maltreatment, and whether alcohol consumption moderated the association of MAOA methylation with the interaction of MAOA-uVNTR and maltreatment...
March 2018: Alcoholism, Clinical and Experimental Research
Arijit Karmakar, Rishov Goswami, Tanusree Saha, Subhamita Maitra, Anirban Roychowdhury, Chinmay Kumar Panda, Swagata Sinha, Anirban Ray, Kochupurackal P Mohanakumar, Usha Rajamma, Kanchan Mukhopadhyay
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is an etiologically complex childhood onset neurobehavioral disorder characterized by age-inappropriate inattention, hyperactivity, and impulsivity. Symptom severity varies widely and boys are diagnosed more frequently than girls. ADHD probands were reported to have abnormal transmissions of dopamine, serotonin, and/or noradrenaline. Monoamine oxidase A (MAOA) and B (MAOB), mitochondrial outer membrane bound two isoenzymes, mediate degradation of these neurotransmitters and thus regulating their circulating levels...
October 5, 2017: BMC Medical Genetics
Anna-Liina Rahikainen, Salla Majaharju, Jari Haukka, Jukka U Palo, Antti Sajantila
Depressive disorders are involved as a background factor in over 50% of suicide cases. The most widely used antidepressants today are serotonin selective reuptake inhibitors (SSRIs). However, not all users benefit from SSRI medication. Although the overall number of suicides in Finland have decreased notably during the last decade, the annual rate is still relatively high, particularly in male population. In this study, we tested the hypothesis that the genetic variants associated with decreased citalopram efficiency, 5HTTLPR/rs25531, and increased impulsive behavior, MAOA-uVNTR and HTR2B Q20*, are more frequent among citalopram users committing suicide than among the citalopram users in general...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Filiz Ozen, Zeynep Yegin, Figen Yavlal, Zuhal Aydan Saglam, Haydar Koc, Ismet Berber
Sleep disorders are highly prevalent in the population and have dramatic health, social, and economic impacts. However, their treatments may remain symptomatic due to ignorance of molecular factors which may provide fundamental insights into the neurological bases of sleep. Excessive daytime sleepiness (EDS) is a common complaint encountered in neurological practice with significant effects both on individuals and on society. We aimed to investigate the role of monoamine oxidase A (MAOA) as a candidate gene in EDS...
May 2017: Neurological Sciences
Eunsoo Won, Sunyoung Choi, June Kang, Min-Soo Lee, Byung-Joo Ham
BACKGROUND: Orbitofrontal cortex alterations have been suggested to underlie the impaired mood regulation in depression. MAOA-uVNTR (monoamine oxidase A-upstream variable number of tandem repeats) polymorphism has been reported to be associated with major depressive disorder by various studies. The influence of MAOA-uVNTR genotype on function and structure of the orbitofrontal cortex has previously been reported. In this study, we investigated the difference in orbitofrontal cortex thickness between medication-naïve female patients with major depressive disorder and healthy controls, and the influence of MAOA-uVNTR genotype on orbitofrontal cortex thickness in depression...
2016: Annals of General Psychiatry
Dubravka Svob Strac, Zrnka Kovacic Petrovic, Matea Nikolac Perkovic, Danica Umolac, Gordana Nedic Erjavec, Nela Pivac
Post-traumatic stress disorder (PTSD), a disorder that develops following exposure to traumatic experience(s), is frequently associated with agitation, aggressive behavior and psychotic symptoms. Monoamine oxidase (MAO) degrades different biogenic amines and regulates mood, emotions and behavior, and has a role in the pathophysiology of various neuropsychiatric disorders. The aim of the study was to investigate the association between different symptoms occurring in PTSD [PTSD symptom severity assessed by the Clinician Administered PTSD Scale (CAPS), agitation and selected psychotic symptoms assessed by the Positive and Negative Syndrome Scale (PANSS)] and platelet MAO-B activity and/or genetic variants of MAOB rs1799836 and MAOA-uVNTR polymorphisms in 249 Croatian male veterans with PTSD...
July 2016: Stress: the International Journal on the Biology of Stress
Matea Nikolac Perkovic, Dubravka Svob Strac, Gordana Nedic Erjavec, Suzana Uzun, Josip Podobnik, Oliver Kozumplik, Suzana Vlatkovic, Nela Pivac
Subjects with schizophrenia or conduct disorder display a lifelong pattern of antisocial, aggressive and violent behavior and agitation. Monoamine oxidase (MAO) is an enzyme involved in the degradation of various monoamine neurotransmitters and neuromodulators and therefore has a role in various psychiatric and neurodegenerative disorders and pathological behaviors. Platelet MAO-B activity has been associated with psychopathy- and aggression-related personality traits, while variants of the MAOA and MAOB genes have been associated with diverse clinical phenotypes, including aggressiveness, antisocial problems and violent delinquency...
August 1, 2016: Progress in Neuro-psychopharmacology & Biological Psychiatry
Yeimy González-Giraldo, Andrés Camargo, Sandra López-León, Diego A Forero
Background. Major depressive disorder (MDD) is the second cause of years lived with disability around the world. A large number of studies have been carried out to identify genetic risk factors for MDD and related endophenotypes, mainly in populations of European and Asian descent, with conflicting results. The main aim of the current study was to analyze the possible association of five candidate genes and depressive symptoms in a Colombian sample of healthy subjects. Methods and Materials. The Spanish adaptation of the Hospital Anxiety and Depression Scale (HADS) was applied to one hundred eighty-eight healthy Colombian subjects...
2015: Depression Research and Treatment
Agnieszka Samochowiec, Magdalena Chęć, Edyta Kopaczewska, Jerzy Samochowiec, Otto Lesch, Elżbieta Grochans, Andrzej Jasiewicz, Przemyslaw Bienkowski, Łukasz Kołodziej, Anna Grzywacz
No abstract text is available yet for this article.
June 2015: International Journal of Environmental Research and Public Health
Agnieszka Samochowiec, Magdalena Chęć, Edyta Kopaczewska, Jerzy Samochowiec, Otto Lesch, Elżbieta Grochans, Andrzej Jasiewicz, Przemyslaw Bienkowski, Kołodziej Łukasz, Anna Grzywacz
BACKGROUND: The aim of this study was to examine the association between the MAOA-uVNTR gene polymorphism in a homogeneous subgroups of patients with alcohol dependence categorized according to Lesch's typology. METHODS: DNA was provided from alcohol dependent (AD) patients (n=370) and healthy control subjects (n=168) all of Polish descent. The history of alcoholism was obtained using the Polish version of the Semi-Structured Assessment for the Genetics of Alcoholism (SSAGA)...
March 2015: International Journal of Environmental Research and Public Health
C Laqua, P Zill, G Koller, U Preuss, M Soyka
AIMS: We have analysed the MAOA-uVNTR polymorphism in the promoter region of the X-chromosomal monoamine oxidase A (MAOA) gene. The first aim was to examine the association between the MAOA genotype and the alcoholic phenotype. In the second part of the paper we have analysed the association of the MAOA genotype with impulsive and aggressive behaviour. Genotypes with 3 or 5-repeat alleles (MAOA-L-genotype) were reported to be associated with impulsive and aggressive traits. METHODS: The MAOA genotype was determined in 371 male alcohol-dependent subjects and 236 male controls all of German descent...
March 2015: Fortschritte der Neurologie-Psychiatrie
Núria Voltas, Estefania Aparicio, Victoria Arija, Josefa Canals
The polymorphism upstream of the gene for monoamine oxidase A (MAOA-uVNTR) is reported to be an important enzyme involved in human physiology and behavior. With a sample of 228 early-adolescents from a community sample (143 girls) and adjusting for environmental variables, we examined the influence of MAOA-uVNTR alleles on the scores obtained in the Screen for Childhood Anxiety and Related Emotional Disorders and in the Child Symptom Inventory-4. Our results showed that girls with the high-activity MAOA allele had higher scores for generalized and total anxiety than their low-activity peers, whereas boys with the low-activity allele had higher social phobia scores than boys with the high-activity allele...
April 2015: Journal of Anxiety Disorders
Diego A Forero, Sandra López-León, Hyoung Doo Shin, Byung Lae Park, Dai-Jin Kim
BACKGROUND: Alcohol-related problems have a large impact on human health, accounting for around 4% of deaths and 4.5% of disability-adjusted life-years around the world. Genetic factors could explain a significant fraction of the risk for alcohol dependence (AD). Recent meta-analyses have found significant pooled odds ratios (ORs) for variants in the ADH1B, ADH1C, DRD2 and HTR2A genes. METHODS: In the present study, we carried out a meta-analysis of common variants in 6 candidate genes involved in neurotransmission and neuroplasticity: BDNF, DRD1, DRD3, DRD4, GRIN2B and MAOA...
April 1, 2015: Drug and Alcohol Dependence
Kent W Nilsson, Erika Comasco, Sheilagh Hodgins, Lars Oreland, Cecilia Åslund
BACKGROUND: Previous evidence of gene-by-environment interactions associated with emotional and behavioral disorders is contradictory. Differences in findings may result from variation in valence and dose of the environmental factor, and/or failure to take account of gene-by-gene interactions. The present study investigated interactions between the brain-derived neurotrophic factor gene (BDNF Val66Met), the serotonin transporter gene-linked polymorphic region (5-HTTLPR), the monoamine oxidase A (MAOA-uVNTR) polymorphisms, family conflict, sexual abuse, the quality of the child-parent relationship, and teenage delinquency...
March 2015: International Journal of Neuropsychopharmacology
Minghao Zhang, Xinyin Chen, Huihua Deng, Zuhong Lu
During infancy, orienting and gaze aversion serve as major self-regulatory mechanisms and play an important role in the development of deliberate self-regulation and control. The present study examined the interaction of intrinsic factors (MAOA-uVNTR and 5-HTTLPR gene polymorphisms) and extrinsic factors (maternal sensitivity) on early infant self-regulatory behavior. We assessed 5-HTTLPR (ss+sl versus ll) and MAOA-uVNTR (3 and 4 among boys, and 3/3, 3/4, and 4/4 among girls) polymorphisms, determined maternal sensitivity during mother-child free play, and coded infant self-regulatory behavior (i...
November 2014: Infant Behavior & Development
Evelyn Kiive, Kariina Laas, Kirsti Akkermann, Erika Comasco, Lars Oreland, Toomas Veidebaum, Jaanus Harro
OBJECTIVE: Monoamine oxidase A (MAOA) gene promoter region includes a variable number of tandem repeat (VNTR) associated with antisocial behaviour in adverse environment. We have examined the effect of the MAOA-uVNTR on mental health and academic success by using a population representative sample and a longitudinal design. METHODS: The data of the older cohort (n = 593, aged 15 years at the original sampling) of the longitudinal Estonian Children Personality, Behaviour and Health Study (ECPBHS) were used...
February 2014: Acta Neuropsychiatrica
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