Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders
<b>Background:</b> Monoamine oxidase A (MAOA) has a role in metabolising different biogenic amines, including dopamine. Functional studies have revealed the effect of promoter region variants on the transcriptional activity of the <i>MAOA</i> that consequently affects the hom...
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2025-03-01
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| author | Aisha Nasir Hashmi Rizwan Taj Zehra Agha Raheel Qamar Jamal B. Williams Maleeha Azam |
| author_facet | Aisha Nasir Hashmi Rizwan Taj Zehra Agha Raheel Qamar Jamal B. Williams Maleeha Azam |
| author_sort | Aisha Nasir Hashmi |
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| description | <b>Background:</b> Monoamine oxidase A (MAOA) has a role in metabolising different biogenic amines, including dopamine. Functional studies have revealed the effect of promoter region variants on the transcriptional activity of the <i>MAOA</i> that consequently affects the homeostasis of the biogenic amines which might implicate in the aetiology of multiple psychiatric conditions. <b>Objectives:</b> The current study aimed to determine the influence of the promoter region 30 base pair (bp), a variable number of tandem repeats (VNTR) of the <i>MAOA</i>, on its serum levels and association with schizophrenia (SHZ), bipolar disorder (BD), and major depressive disorder (MDD) in the Pakistani population. <b>Methods:</b> A total of 1062 subjects [MDD <i>n</i> = 416, BD <i>n</i> = 200, SHZ <i>n</i> = 97 and controls <i>n</i> = 349], were genotyped for <i>MAOA</i>-30bp µVNTR through standard polymerase chain reaction technique and logistic regression was applied to determine the genetic association. Serum MAOA levels were determined through enzyme-linked immunosorbent assay (ELISA) and the Mann-Whitney U test was applied. <b>Results:</b> In genotype analysis, eight different repeat (R) alleles of <i>MAOA</i>-30 bp µVNTR were observed, where 4.5R, 5.5R, and 6R were the rare repeats found in the current Pakistani cohort. In serum-based analysis the total MAOA serum levels were found to be significantly elevated in SHZ; however, in sub-group analysis, significantly higher serum levels of MAOA were observed only in the rare allele groups of MDD, BD, and SHZ. <b>Conclusions:</b> The current study gives us further insights into the complex nature of <i>MAOA</i> regulation and its genetic and serum-levels association with different psychiatric conditions. |
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| spelling | doaj-art-dbbf5a17ac5145cf83d8ef2a8aec6ef52025-08-20T03:43:15ZengMDPI AGBiomedicines2227-90592025-03-0113369810.3390/biomedicines13030698Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric DisordersAisha Nasir Hashmi0Rizwan Taj1Zehra Agha2Raheel Qamar3Jamal B. Williams4Maleeha Azam5Translational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Park Road, Tarlai Kalan, Islamabad 45600, PakistanDepartment of Psychiatry, Pakistan Institute of Medical Sciences, Islamabad 44000, PakistanTranslational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Park Road, Tarlai Kalan, Islamabad 45600, PakistanPakistan Academy of Sciences, Islamabad 44000, PakistanDepartment of Psychiatry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14203, USATranslational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Park Road, Tarlai Kalan, Islamabad 45600, Pakistan<b>Background:</b> Monoamine oxidase A (MAOA) has a role in metabolising different biogenic amines, including dopamine. Functional studies have revealed the effect of promoter region variants on the transcriptional activity of the <i>MAOA</i> that consequently affects the homeostasis of the biogenic amines which might implicate in the aetiology of multiple psychiatric conditions. <b>Objectives:</b> The current study aimed to determine the influence of the promoter region 30 base pair (bp), a variable number of tandem repeats (VNTR) of the <i>MAOA</i>, on its serum levels and association with schizophrenia (SHZ), bipolar disorder (BD), and major depressive disorder (MDD) in the Pakistani population. <b>Methods:</b> A total of 1062 subjects [MDD <i>n</i> = 416, BD <i>n</i> = 200, SHZ <i>n</i> = 97 and controls <i>n</i> = 349], were genotyped for <i>MAOA</i>-30bp µVNTR through standard polymerase chain reaction technique and logistic regression was applied to determine the genetic association. Serum MAOA levels were determined through enzyme-linked immunosorbent assay (ELISA) and the Mann-Whitney U test was applied. <b>Results:</b> In genotype analysis, eight different repeat (R) alleles of <i>MAOA</i>-30 bp µVNTR were observed, where 4.5R, 5.5R, and 6R were the rare repeats found in the current Pakistani cohort. In serum-based analysis the total MAOA serum levels were found to be significantly elevated in SHZ; however, in sub-group analysis, significantly higher serum levels of MAOA were observed only in the rare allele groups of MDD, BD, and SHZ. <b>Conclusions:</b> The current study gives us further insights into the complex nature of <i>MAOA</i> regulation and its genetic and serum-levels association with different psychiatric conditions.https://www.mdpi.com/2227-9059/13/3/698monoamine oxidasefunctional polymorphismspsychiatric disorderspopulation genetics |
| spellingShingle | Aisha Nasir Hashmi Rizwan Taj Zehra Agha Raheel Qamar Jamal B. Williams Maleeha Azam Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders Biomedicines monoamine oxidase functional polymorphisms psychiatric disorders population genetics |
| title | Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders |
| title_full | Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders |
| title_fullStr | Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders |
| title_full_unstemmed | Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders |
| title_short | Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders |
| title_sort | association of monoamine oxidase a gene promoter region 30 bp μvntr polymorphism with serum levels in multiple psychiatric disorders |
| topic | monoamine oxidase functional polymorphisms psychiatric disorders population genetics |
| url | https://www.mdpi.com/2227-9059/13/3/698 |
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