Kim Hae Won, Kang Jee In, Hwang Eun Hee, Kim Se Joo
Department of Medical Education, Yonsei University College of Medicine, Seoul, Republic of Korea.
Institute of Behavioral Science in Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.
PLoS One. 2018 Jan 5;13(1):e0190593. doi: 10.1371/journal.pone.0190593. eCollection 2018.
Accumulating evidence suggests that the glutamatergic system plays a major role in the pathophysiology of obsessive compulsive disorder (OCD) and empathic processing. Particularly, genetic influence of glutamate transporter gene (SLC1A1) on OCD has been frequently replicated in previous studies, but several studies did not replicate the result. Therefore, we aimed to replicate the associations between the SLC1A1 and OCD in a Korean population. In addition, we investigated the influence of SLC1A1 on trait empathy, impairments in which are characteristic of OCD. Six single-nucleotide polymorphisms (SNP) of SLC1A1 were genotyped in 615 patients with OCD and 508 healthy controls. The interpersonal reactivity index (IRI)-which consists of four subscales (perspective taking, PT; fantasy seeking, FS; empathic concern, EC; personal distress, PD)-was assessed from 277 patients with OCD and 395 controls. There were no significant associations between OCD and SNPs or haplotypes of SLC1A1. Patients with OCD exhibited significantly lower PT and higher PD scores than controls. The C-T-G haplotype at rs301430-rs301434-rs3087879 of SLC1A1 was significantly associated with higher PD scores after adjusted for age, sex, and OCD status. Our results suggest that six common SNPs of SLC1A1 may not contribute to the development of OCD, but may contribute to certain aspect of trait empathy such as personal distress. However, insufficient sample size and limited number of SLC1A1 SNPs may have reduced the likelihood of detecting significant associations. Therefore, further studies with larger sample size and more tag SNPs of the SLC1A1 gene were warranted.
越来越多的证据表明,谷氨酸能系统在强迫症(OCD)的病理生理学和共情加工中起主要作用。特别是,谷氨酸转运体基因(SLC1A1)对OCD的遗传影响在先前的研究中经常被重复验证,但也有一些研究未能重复该结果。因此,我们旨在在韩国人群中重复验证SLC1A1与OCD之间的关联。此外,我们还研究了SLC1A1对特质共情的影响,特质共情受损是OCD的特征之一。对615例OCD患者和508例健康对照进行了SLC1A1的6个单核苷酸多态性(SNP)基因分型。对277例OCD患者和395例对照进行了人际反应指数(IRI)评估,该指数由四个分量表组成(观点采择,PT;幻想寻求,FS;共情关注,EC;个人痛苦,PD)。OCD与SLC1A1的SNP或单倍型之间无显著关联。OCD患者的PT得分显著低于对照组,PD得分显著高于对照组。在调整年龄、性别和OCD状态后,SLC1A1基因rs301430-rs301434-rs3087879位点的C-T-G单倍型与较高的PD得分显著相关。我们的结果表明,SLC1A1的6个常见SNP可能与OCD的发生无关,但可能与特质共情的某些方面有关,如个人痛苦。然而,样本量不足和SLC1A1 SNP数量有限可能降低了检测到显著关联的可能性。因此,有必要进行更大样本量和更多SLC1A1基因标签SNP的进一步研究。