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MAOA haplotypes associated with thrombocyte-MAO activity

BACKGROUND: The aim was to ascertain whether thrombocyte MAO (trbc-MAO) activity and depressed state are genetically associated with the MAO locus on chromosome X (Xp11.3 – 11.4). We performed novel sequencing of the MAO locus and validated genetic variants found in public databases prior to constru...

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Autores principales: Jansson, Mårten, McCarthy, Shane, Sullivan, Patrick F, Dickman, Paul, Andersson, Björn, Oreland, Lars, Schalling, Martin, Pedersen, Nancy L
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1249565/
https://www.ncbi.nlm.nih.gov/pubmed/16174289
http://dx.doi.org/10.1186/1471-2156-6-46
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author Jansson, Mårten
McCarthy, Shane
Sullivan, Patrick F
Dickman, Paul
Andersson, Björn
Oreland, Lars
Schalling, Martin
Pedersen, Nancy L
author_facet Jansson, Mårten
McCarthy, Shane
Sullivan, Patrick F
Dickman, Paul
Andersson, Björn
Oreland, Lars
Schalling, Martin
Pedersen, Nancy L
author_sort Jansson, Mårten
collection PubMed
description BACKGROUND: The aim was to ascertain whether thrombocyte MAO (trbc-MAO) activity and depressed state are genetically associated with the MAO locus on chromosome X (Xp11.3 – 11.4). We performed novel sequencing of the MAO locus and validated genetic variants found in public databases prior to constructing haplotypes of the MAO locus in a Swedish sample (N = 573 individuals). RESULTS: Our results reveal a profound SNP desert in the MAOB gene. Both the MAOA and MAOB genes segregate as two distinct LD blocks. We found a significant association between two MAOA gene haplotypes and reduced trbc-MAO activity, but no association with depressed state. CONCLUSION: The MAO locus seems to have an effect on trbc-MAO activity in the study population. The findings suggest incomplete X-chromosome inactivation at this locus. It is plausible that a gene-dosage effect can provide some insight into the greater prevalence of depressed state in females than males.
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spelling pubmed-12495652005-10-08 MAOA haplotypes associated with thrombocyte-MAO activity Jansson, Mårten McCarthy, Shane Sullivan, Patrick F Dickman, Paul Andersson, Björn Oreland, Lars Schalling, Martin Pedersen, Nancy L BMC Genet Research Article BACKGROUND: The aim was to ascertain whether thrombocyte MAO (trbc-MAO) activity and depressed state are genetically associated with the MAO locus on chromosome X (Xp11.3 – 11.4). We performed novel sequencing of the MAO locus and validated genetic variants found in public databases prior to constructing haplotypes of the MAO locus in a Swedish sample (N = 573 individuals). RESULTS: Our results reveal a profound SNP desert in the MAOB gene. Both the MAOA and MAOB genes segregate as two distinct LD blocks. We found a significant association between two MAOA gene haplotypes and reduced trbc-MAO activity, but no association with depressed state. CONCLUSION: The MAO locus seems to have an effect on trbc-MAO activity in the study population. The findings suggest incomplete X-chromosome inactivation at this locus. It is plausible that a gene-dosage effect can provide some insight into the greater prevalence of depressed state in females than males. BioMed Central 2005-09-20 /pmc/articles/PMC1249565/ /pubmed/16174289 http://dx.doi.org/10.1186/1471-2156-6-46 Text en Copyright © 2005 Jansson et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Jansson, Mårten
McCarthy, Shane
Sullivan, Patrick F
Dickman, Paul
Andersson, Björn
Oreland, Lars
Schalling, Martin
Pedersen, Nancy L
MAOA haplotypes associated with thrombocyte-MAO activity
title MAOA haplotypes associated with thrombocyte-MAO activity
title_full MAOA haplotypes associated with thrombocyte-MAO activity
title_fullStr MAOA haplotypes associated with thrombocyte-MAO activity
title_full_unstemmed MAOA haplotypes associated with thrombocyte-MAO activity
title_short MAOA haplotypes associated with thrombocyte-MAO activity
title_sort maoa haplotypes associated with thrombocyte-mao activity
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1249565/
https://www.ncbi.nlm.nih.gov/pubmed/16174289
http://dx.doi.org/10.1186/1471-2156-6-46
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