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首页> 外文期刊>Nordic journal of psychiatry. >Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders
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Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders

机译：鉴定影响精神障碍中多巴胺转运蛋白基因的罕见高风险拷贝数变异

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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.
机译：背景：多巴胺转运蛋白，也称为溶质载体6A3（SLC6A3），通过调节突触中多巴胺的再摄取在突触传递中起重要作用。与此相符，已将编码该转运蛋白的基因变异与精神分裂症和情感障碍联系在一起。近来，已经在健康受试者中鉴定了SLC6A3中的拷贝数变体（CNV），但是到目前为止，尚未解决影响该基因的CNV在精神疾病中的影响。目的：在本研究中，我们旨在调查影响SLC6A3的CNV是否代表罕见的精神疾病高危变异体。方法：我们使用单核苷酸多态性阵列系统筛查了761名健康对照者，672名精神分裂症患者和194名躁郁症患者以及6名受精神障碍影响的大谱系的253名家属，并对SLC6A3的CNV进行了系统筛查，随后进行了真实验证时聚合酶链反应。结果：我们在患者中鉴定出两个重复和一个缺失会影响SLC6A3，而在任何对照中均未鉴定出此类CNV。鉴定出的CNV大小不同，除SLC6A3外，还有两个基因影响了几个基因。结论：我们的发现表明，罕见的影响多巴胺转运蛋白编码基因的高风险CNV有助于精神分裂症和情感障碍的发病。

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