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Nord J Psychiatry. 2016;70(4):276-9. doi: 10.3109/08039488.2015.1095944. Epub 2015 Nov 11.

Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders.

Author information

1
a Louise K. Hoeffding , Institute of Biological Psychiatry , Mental Health Centre Sct. Hans, Mental Health Services Copenhagen , Denmark ;
2
b Linh T.T. Duong , Institute of Biological Psychiatry , Mental Health Centre Sct. Hans, Mental Health Services Copenhagen , Denmark ;
3
c Andrés Ingason , deCODE Genetics , Reykjavik , Iceland ;
4
d Anders Rosengren , Institute of Biological Psychiatry , Mental Health Centre Sct. Hans, Mental Health Services Copenhagen , Denmark ;
5
e Ester Sorbanski , Department of Psychiatry and Psychotherapy , Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg , Mannheim , Germany ;
6
f Stephanie H. Witt , Department of Genetic Epidemiology in Psychiatry , Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg , Mannheim , Germany ;
7
g Srdjan Djurovic , Department of Medical Genetics , Oslo University Hospital , Oslo , Norway , and NORMENT, KG Jebsen Centre for Psychosis Research, Department of Clinical Science, University of Bergen, Norway ;
8
h Ole A. Andreassen , Department of Medical Genetics , Oslo University Hospital , Oslo , Norway , and NORMENT, KG Jebsen Centre for Psychosis Research, Department of Clinical Science, University of Bergen, Norway ;
9
i Thomas Hansen , Institute of Biological Psychiatry , Mental Health Centre Sct. Hans, Mental Health Services Copenhagen , Denmark ;
10
j Thomas Werge , Institute of Biological Psychiatry , Mental Health Centre Sct. Hans, Mental Health Services Copenhagen , Denmark , Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark, and Department of Clinical Medicine, University of Copenhagen, Denmark ;
11
k Henrik B. Rasmussen , Institute of Biological Psychiatry , Mental Health Centre Sct. Hans, Mental Health Services Copenhagen , Denmark.

Abstract

BACKGROUND:

The dopamine transporter, also known as solute carrier 6A3 (SLC6A3), plays an important role in synaptic transmission by regulating the reuptake of dopamine in the synapses. In line with this, variations in the gene encoding this transporter have been linked to both schizophrenia and affective disorders. Recently, copy number variants (CNVs) in SLC6A3 have been identified in healthy subjects but so far, the implication of CNVs affecting this gene in psychiatric diseases has not been addressed.

AIMS:

In the present study, we aimed to investigate whether CNVs affecting SLC6A3 represent rare high-risk variants of psychiatric disorders.

METHODS:

We performed a systematic screening for CNVs affecting SLC6A3 in 761 healthy controls, 672 schizophrenia patients, and 194 patients with bipolar disorder in addition to 253 family members from six large pedigrees affected by mental disorders using single nucleotide polymorphism arrays and subsequent verification by real-time polymerase chain reaction.

RESULTS:

We identified two duplications and one deletion affecting SLC6A3 in the patients, while no such CNVs were identified in any of the controls. The identified CNVs were of different sizes and two affected several genes in addition to SLC6A3.

CONCLUSION:

Our findings suggest that rare high-risk CNVs affecting the gene encoding the dopamine transporter contribute to the pathogenesis of schizophrenia and affective disorders.

KEYWORDS:

Affective disorders; copy number variants; dopamine transporter; schizophrenia; solute carrier 6A3.

PMID:
26559242
DOI:
10.3109/08039488.2015.1095944
[Indexed for MEDLINE]

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