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SAT1 插入/缺失多态性与自杀完成的关联。

Association of the SAT1 in/del polymorphism with suicide completion.

机构信息

McGill Group for Suicide Studies, Douglas Mental Health University Institute, McGill University, Montreal, Quebec, Canada.

出版信息

Am J Med Genet B Neuropsychiatr Genet. 2010 Apr 5;153B(3):825-9. doi: 10.1002/ajmg.b.31040.

Abstract

Several studies have observed decreased expression of spermidine/spermine N1-acetyltransferase (SAT1) in the brains of suicide completers, and we previously identified a single-nucleotide polymorphism in the promoter region of SAT1 which was associated with suicide completion and SAT1 expression in the brain. We recently characterized the haplotype structure of the SAT1 promoter region and identified an insertion/deletion (in/del) of 15 adenine residues. This variant appears to be a predictor of SAT1 expression, and we were thus interested in determining if the lower expressing deletion allele was found more frequently among suicide completers. To this end, we genotyped the in/del in a sample of 771 French-Canadian males, comprising 326 suicide completers and 445 non-suicide controls. We found no significant difference in the frequencies of the two alleles between suicide completers and controls in the entire sample. However, we observed a significantly higher frequency of the deletion in the depressed suicide completers compared to the depressed non-suicides. These results add support for a role of SAT1 in conferring a risk for suicide completion, in particular in the context of depressive disorders.

摘要

几项研究观察到,自杀者大脑中的精脒/精胺 N1-乙酰基转移酶(SAT1)表达降低,我们之前在 SAT1 的启动子区域发现了一个单核苷酸多态性,该多态性与自杀完成和大脑中的 SAT1 表达有关。我们最近对 SAT1 启动子区域的单倍型结构进行了表征,并鉴定出 15 个腺嘌呤残基的插入/缺失(in/del)。该变体似乎是 SAT1 表达的预测因子,因此我们有兴趣确定在自杀者中是否更频繁地发现表达较低的缺失等位基因。为此,我们对 771 名加拿大男性的样本中的 in/del 进行了基因分型,其中包括 326 名自杀者和 445 名非自杀对照组。我们没有发现自杀者和对照组之间整个样本中两个等位基因频率的显著差异。然而,我们观察到在抑郁的自杀者中,缺失的频率明显高于抑郁的非自杀者。这些结果为 SAT1 在赋予自杀完成风险方面的作用提供了支持,特别是在抑郁障碍的背景下。

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