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首页> 外文期刊>Journal of psychiatric research >Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa
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Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa

机译：15Q11.2 BP1-BP2基因座的微拆量富集厌食症神经症患者

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Microduplication at 15q11.2 have been reported in genetic association studies of schizophrenia and autism. Given the potential overlap in psychiatric symptoms of schizophrenia and autism with anorexia nervosa (AN), we were inspired to test the association of this CNV locus with the genetic susceptibility of AN using ParseCNV, a highly quality controlled CNV pipeline developed by our group. The CNV analysis was performed in 1017 AN cases and 7250 controls using the Illumina HumanHap610 SNP arrays data. We uncovered association of the 15q11.2 microduplication with AN with P = 0.00023, while no genetic association between the microdeletion of this region and AN was identified. Among four genes in this region that are not imprinted, NIPA1 has the highest expression in brain and encodes a magnesium transporter protein on early endosomes and the cell surface in neurons. Targeting at Mg2+ uptake mediated by NIPA1 presents an interesting research topic for the explorations of novel therapy for AN and other neurobehavioral diseases, such as schizophrenia and autism.
机译：在精神分裂症和自闭症的遗传关联研究中报道了15Q11.2的微量杂化。鉴于厌食症（AN）的精神分裂症和自闭症的精神病症状潜在重叠，我们的灵感性是通过使用我们的小组开发的高质量控制的CNV管道来测试这种CNV基因座的关联。使用Illumina Humanhap610 SNP阵列数据在1017例和7250控制中进行CNV分析。我们发现15Q11.2微量杂物的关联，具有P = 0.00023，而该区域的微缺失与鉴定该区域的微缺差异。在该区域的四个基因中，该区域的未印记，NIPA1具有脑中的最高表达，并在早期内胚盘和神经元中的细胞表面进行编码镁转运蛋白。靶向NIPA1介导的MG2 +摄取介绍了对新药治疗和其他神经疾病的新疗法的有趣研究课题，例如精神分裂症和自闭症。

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