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强迫症与 HDAC 基因多态性的关联。

Link between obsessive-compulsive disorder and polymorphisms in HDAC genes.

机构信息

Department of Psychiatry, Aydın Goverment Hospital, Aydın, Turkey.

Department of Medical Genetics, Faculty of Medicine, Aydın Adnan Menderes University, Aydın, Turkey.

出版信息

Braz J Psychiatry. 2022 Mar-Abr;44(2):156-163. doi: 10.1590/1516-4446-2020-1715.

DOI:10.1590/1516-4446-2020-1715
PMID:34730715
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9041966/
Abstract

OBJECTIVE

Recently, epigenetic mechanisms related to histone modifications including histone deacetylation (HDAC) have been emphasized in psychiatric diseases. Few studies have investigated the relationship of HDAC gene variations to psychiatric diseases, but these gene variations have never been studied in obsessive-compulsive disorder (OCD). The present case-control study aimed to compare symptomatology with HDAC gene variations in patients with OCD.

METHODS

Illumina next-generation sequencing of six HDAC genes (HDAC2,3,4,9,10,11) was performed on DNA samples isolated from 200 Turkish subjects recruited from routine clinical practice. Twenty-seven single nucleotide polymorphism (SNPs) in six HDAC genes were scanned with the LightSNiP method.

RESULTS

New variants, all previously unreported in the literature, were identified in the HDAC4, HDAC10, and HDAC11 genes. When control and OCD patient groups were compared, a statistically significant difference was found in HDAC2 rs13212283, HDAC4 rs1063639, and HDAC10 rs1555048 in terms of genotype distribution (p < 0.05). In addition, in the OCD group, a statistically significant relationship was found between some obsessions/compulsions and HDAC2, HDAC3, and HDAC4 polymorphisms (p < 0.05).

CONCLUSIONS

Our study shows that the HDAC2, HDAC3, HDAC4, and HDAC10 genes may play a role in the pathogenesis of OCD.

摘要

目的

最近,与组蛋白修饰相关的表观遗传机制,包括组蛋白去乙酰化(HDAC),在精神疾病中受到了重视。很少有研究调查 HDAC 基因变异与精神疾病的关系,但这些基因变异在强迫症(OCD)中从未被研究过。本病例对照研究旨在比较 OCD 患者的症状与 HDAC 基因变异。

方法

对 200 名土耳其患者的 DNA 样本进行了六个 HDAC 基因(HDAC2、3、4、9、10、11)的 Illumina 下一代测序。使用 LightSNiP 方法扫描了六个 HDAC 基因中的 27 个单核苷酸多态性(SNP)。

结果

在 HDAC4、HDAC10 和 HDAC11 基因中发现了新的变体,这些变体以前在文献中都没有报道过。当对照和 OCD 患者组进行比较时,在 HDAC2 rs13212283、HDAC4 rs1063639 和 HDAC10 rs1555048 的基因型分布方面发现了统计学上的显著差异(p<0.05)。此外,在 OCD 组中,HDAC2、HDAC3 和 HDAC4 多态性与某些强迫观念/强迫行为之间存在统计学上的显著关系(p<0.05)。

结论

我们的研究表明,HDAC2、HDAC3、HDAC4 和 HDAC10 基因可能在 OCD 的发病机制中起作用。

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