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与功能性 5-羟色胺转运体单倍型相关的家族性强迫症在伊朗患者中的表现。

Association of the functional serotonin transporter haplotype with familial form of obsessive compulsive disorder in Iranian patients.

机构信息

a Neuroscience Research Center , Shahid Beheshti University of Medical Sciences , Tehran , Iran.

b NeuroBiology Research Center , Shahid Beheshti University of Medical Sciences , Tehran , Iran.

出版信息

Int J Psychiatry Clin Pract. 2018 Mar;22(1):47-53. doi: 10.1080/13651501.2017.1353634. Epub 2017 Aug 11.

Abstract

OBJECTIVE

Several polymorphisms have been reported in the 5-HTTLPR of the serotonin transporter gene (SLC6A4). Family-based evidences for the association of 5-HTTLPR polymorphisms with OCD were previously reported but results were controversial. The present study investigated the possible correlation of SLC6A4 polymorphisms (5-HTTLPR, rs25532, rs25531) in Iranian OCD patients considering gender, age of onset, family history of psychiatric disorders, obsessive and compulsive subtypes and severities.

METHODS

The included OCD patients fulfilled the criteria for DSM-IV-TR whom Y-BOCS score was more than 9. Blood samples (184 cases and 192 controls) were genotyped by means of PCR-RFLP.

RESULTS

Mean of Y-BOCS scores of included patients was 20.1 ± 0.69. Rs25532 CC genotype showed significant association with OCD in men and were detected more in the patients reported positive family history of psychiatric disorders but the other single loci (5-HTTLPR and rs25531) did not associate with OCD. Haplotype analysis showed significant association of 14-A variant with OCD and revealed the association of 14-A/14-A genotype with familial form of OCD.

CONCLUSIONS

The findings of this study showed the association of SLC6A4 variants with familial form of OCD and proposed stratified analyses in the genetic studies facilitate identification of genetic risk factors for this heterogeneous disorder.

摘要

目的

5-羟色胺转运体基因(SLC6A4)的 5-HTTLPR 中已经报道了几种多态性。先前有研究报道了基于家庭的证据表明 5-HTTLPR 多态性与 OCD 之间存在关联,但结果存在争议。本研究调查了伊朗 OCD 患者中 SLC6A4 多态性(5-HTTLPR、rs25532、rs25531)与 OCD 之间可能的相关性,考虑到性别、发病年龄、精神疾病家族史、强迫和强迫亚型以及严重程度。

方法

符合 DSM-IV-TR 标准且 Y-BOCS 评分大于 9 的 OCD 患者被纳入研究。通过 PCR-RFLP 方法对 184 例患者和 192 例对照的血液样本进行基因分型。

结果

纳入患者的 Y-BOCS 评分均值为 20.1±0.69。rs25532CC 基因型在男性中与 OCD 显著相关,且在报告有精神疾病家族史的患者中更为常见,但其他单核苷酸多态性(5-HTTLPR 和 rs25531)与 OCD 无关。单体型分析显示 14-A 变体与 OCD 显著相关,并揭示了 14-A/14-A 基因型与家族性 OCD 的关联。

结论

本研究结果表明 SLC6A4 变异与家族性 OCD 相关,并提出在遗传研究中进行分层分析有助于确定这种异质性疾病的遗传风险因素。

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