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首页> 外文期刊>Journal of psychiatric research >SLC6A4 rare variant associated with eating disorders in Mexican patients
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SLC6A4 rare variant associated with eating disorders in Mexican patients

机译：SLC6A4罕见变异与墨西哥患者饮食失调有关

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摘要

Sir, The serotonin transporter gene {SLC6A4) has been studied extensively in eating disorders (ED) using association methodologies. In particular, analysis of a common 5-HTTLPR functional polymorphism has not shown definitive conclusions. Interestingly, rare coding variants have been identified in SLC6A4 gene that could contribute to understand the role of this gene in ED. A gain-of-function variant (Gly56A1a, rs6355) was identified in a large reference sample (Glatt et al, 2001) and associated with autism in females carriers of Ala56 allele (Sutcliffe et al., 2005). In addition, functional studies of Gly56Ala polymorphism reported that Ala56 allele demonstrated elevated serotonin re-uptake transport activity compared with Gly56 transfected cells. Also, both variants showed insensitivity to activators of protein kinase G (PKG) and p-38 mitogen-activated protein kinase (MAPK) and phosphorylation studies showed elevated basal levels after 8BrcGMP stimulation treatment (Prasad et al., 2005, 2009).
机译：主席先生，血清素转运蛋白基因（SLC6A4）已在饮食障碍（ED）中使用关联方法进行了广泛研究。特别是，对常见的5-HTTLPR功能多态性的分析尚未显示明确的结论。有趣的是，已经在SLC6A4基因中鉴定了罕见的编码变体，这可能有助于理解该基因在ED中的作用。在大量参考样本（Glatt等，2001）中发现了功能获得变异体（Gly56A1a，rs6355），并且与Ala56等位基因女性携带者的自闭症相关（Sutcliffe等，2005）。另外，对Gly56Ala多态性的功能研究报告说，与Gly56转染的细胞相比，Ala56等位基因显示出5-羟色胺重摄取转运活性的升高。同样，两个变体均显示出对蛋白激酶G（PKG）和p-38丝裂原活化蛋白激酶（MAPK）激活剂不敏感，磷酸化研究显示8BrcGMP刺激治疗后基础水平升高（Prasad等，2005，2009）。

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