COMT rs4680和DRD2 rs6275变异及其与早发性双相情感障碍儿童YMRS评分的相关性

IF 2.5 4区 医学 Q2 PSYCHIATRY European Journal of Psychiatry Pub Date : 2023-01-01 DOI:10.1016/j.ejpsy.2022.07.003
M. Cengiz , G. Karacetin , M. Topal , M.E. Yuksel , T. Eseroglu , G.B. Akdeniz , T. Demir , M. Erkiran , A. Dirican , B. Bayoglu
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引用次数: 0

摘要

背景与目的躁郁症(BD)是一种临床状态,至少有一次躁狂、轻度躁狂或混合发作。遗传因素在早发性BD(EOBD)中起重要作用。多巴胺受体(DRD)在神经机制中发挥作用,如动机、学习、记忆和神经内分泌信号的控制。DRD2受体已被报道影响DRD2转录物的稳定性。儿茶酚胺-O-甲基转移酶(COMT)使儿茶酚胺失活,而COMT上的Val158Met变异对COMT活性有影响。本研究旨在探讨DRD2和COMT变异在EOBD临床发展中的作用。方法在本病例对照研究中,102名EOBD患者和168名健康对照受试者。实时聚合酶链式反应(RT-PCR)检测DRD2-rs6275和COMT-Val158Met的变异。年轻躁狂评定量表(YMRS)用于确定EOBD的严重程度。结果DRD2 rs6275和COMT Val158Met多态性在患者和对照组之间的基因型和等位基因频率没有显著关系。然而,DRD2 rs6275多态性的TT基因型携带者与CC和CT基因型携带者相比,YMRS评分显著增加(p=0.039)。然而,COMT-Val158Met基因型与YMRS评分之间没有观察到显著差异。结论DRD2 rs6275 TT变异体可能与EOBD患儿的症状严重程度有关,在EOBD的发病机制中具有临床意义。然而,这些结果需要用患者和对照组的更大样本来证实。
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COMT rs4680 and DRD2 rs6275 variants and their association with YMRS scores in children with early-onset bipolar disorder

Background and objectives

Bipolar disorder (BD) is a clinical status with at least one manic, hypomanic or mixed attacks. Genetic factors take part significantly in early-onset BD (EOBD). Dopamine receptors (DRD) act in neurological mechanisms like motivation, learning, memory, and, control of neuroendocrine signaling. DRD2 receptor has been reported to influence the stability of DRD2 transcript. Catechol-O-Methyl transferase (COMT) inactivates catecholamines and Val158Met variation on COMT has effects on COMT activity. This study aims to explore DRD2 and COMT variants in the clinical development of EOBD.

Methods

In this case-control study, 102 EOBD patients and 168 healthy control subjects were used. DRD2 rs6275 and COMT Val158Met variations were detected by real-time polymerase chain reaction (RT-PCR). Young Mania Rating Scale (YMRS) was utilized to determine the EOBD severity.

Results

For DRD2 rs6275 and COMT Val158Met polymorphisms, no significant relationship was observed in the genotype and allele frequencies between patient and control groups. Nevertheless, TT genotype carriers of DRD2 rs6275 polymorphism demonstrated significantly increased YMRS scores when compared with CC and CT genotype carriers (p = 0.039). Nevertheless, no significant difference was observed between COMT Val158Met genotypes and YMRS scores.

Conclusions

We suggest that the DRD2 rs6275 TT variant can be associated with symptom severity in children with EOBD and can have a clinical significance in EOBD pathogenesis. However, these results need to be confirmed with larger samples of patient and control groups.

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来源期刊
CiteScore
2.90
自引率
0.00%
发文量
40
审稿时长
43 days
期刊介绍: The European journal of psychiatry is a quarterly publication founded in 1986 and directed by Professor Seva until his death in 2004. It was originally intended to report “the scientific activity of European psychiatrists” and “to bring about a greater degree of communication” among them. However, “since scientific knowledge has no geographical or cultural boundaries, is open to contributions from all over the world”. These principles are maintained in the new stage of the journal, now expanded with the help of an American editor.
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