Association of Human Endogenous Retrovirus HERV-K18 Variant with Bipolar Disorder Type I.

IF 2.4 4区医学 Q3 NEUROSCIENCES

Clinical Psychopharmacology and Neuroscience Pub Date : 2025-05-31 Epub Date: 2025-01-16 DOI:10.9758/cpn.24.1242

Zeynep Yegin, Gokhan Sarisoy, Cumhur Avsar, Ayse Erguner Aral, Haydar Koc

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引用次数: 0

Abstract

Objective: Human endogenous retroviruses (HERVs) and associated sequences occupy ∼8% of the human genome and dysregulation of HERV transcripts may have significant impacts on human health including psychiatric disorders. HERV-K18 is still active in the human genome and its envelope gene encodes a superantigen (SAg) which may result in deregulation of the immune system. In the study, the possible associations of the two variants localized in the SAg-coding region of HERV-K18 with bipolar disorder type I (BD-I) were evaluated.

Methods: The subjects included 100 patients with BD-I and 100 age- and sex-matched healthy controls. The effects of the two HERV-K18 variants (HERV-8594 and HERV-8914) were analyzed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The possible associations of the genotypes/alleles in BD-I patients with several clinical and demographic data were also evaluated.

Results: HERV-8914 TT genotype had approximately 5.36 times higher risk of BD-I than those with the CC genotype (odds ratio, 5.386; 95% confidence interval, 1.602-18.110). Moreover, the prevalence of the CC genotype in patients with hypomania (31.25%) was found to be higher than that observed in patients without hypomania (10.71%) (Fisher's exact test = 5.931, p = 0.036).

Conclusion: This is the first study implying that HERV-K18 variations may be associated with the pathogenesis of BD-I.

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人内源性逆转录病毒HERV-K18变异与I型双相情感障碍的关系

目的：人类内源性逆转录病毒（HERV）及其相关序列占据人类基因组的8%，HERV转录本的失调可能对人类健康（包括精神疾病）产生重大影响。HERV-K18在人类基因组中仍然活跃，其包膜基因编码一种超抗原（SAg），这可能导致免疫系统的失调。在这项研究中，我们评估了HERV-K18 sagg编码区域的两种变异与I型双相情感障碍（BD-I）的可能关联。方法：研究对象包括100例BD-I患者和100例年龄和性别匹配的健康对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法分析2个HERV-K18变异（HERV-8594和HERV-8914）的作用。还评估了BD-I患者的基因型/等位基因与一些临床和人口学数据的可能关联。结果：HERV-8914 TT基因型患BD-I的风险约为CC基因型的5.36倍(优势比5.386；95%置信区间为1.602-18.110)。此外，CC基因型在轻躁狂患者中的患病率（31.25%）高于无轻躁狂患者（10.71%）（Fisher精确检验= 5.931,p = 0.036）。结论：这是第一个提示HERV-K18变异可能与BD-I发病机制相关的研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Psychopharmacology and Neuroscience NEUROSCIENCESPHARMACOLOGY & PHARMACY-PHARMACOLOGY & PHARMACY

CiteScore

4.70

自引率

12.50%

发文量

期刊介绍： Clinical Psychopharmacology and Neuroscience (Clin Psychopharmacol Neurosci) launched in 2003, is the official journal of The Korean College of Neuropsychopharmacology (KCNP), and the associate journal for Asian College of Neuropsychopharmacology (AsCNP). This journal aims to publish evidence-based, scientifically written articles related to clinical and preclinical studies in the field of psychopharmacology and neuroscience. This journal intends to foster and encourage communications between psychiatrist, neuroscientist and all related experts in Asia as well as worldwide. It is published four times a year at the last day of February, May, August, and November.