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与双相情感障碍的季节模式和家族史相关的周期蛋白3(PER3)可变数目串联重复序列变异体

PERIOD3 (PER3) VNTR Variant Associated with Seasonal Pattern and Family History in Bipolar Disorder.

作者信息

Aytac Hasan Mervan, Pehlivan Mustafa, Oyaci Yasemin, Pehlivan Sacide

机构信息

Psychiatry Unit, Malazgirt State Hospital, Mus, Turkey,

出版信息

Psychiatr Danub. 2022 Winter;34(4):695-699. doi: 10.24869/psyd.2022.695.

DOI:10.24869/psyd.2022.695
PMID:36548883
Abstract

BACKGROUND

Dysregulation of circadian rhythms has been thought to be associated with psychiatric disorders such as bipolar disorder (BD) and depression. We aimed to evaluate the relationship between clinical specifiers of BD, mainly seasonal pattern (SP), and the variable number tandem repeat (VNTR) variant of the PERIOD3 (PER3) gene (rs57875989) in BD patients by comparing genotype distributions with healthy controls considering clinical parameters.

SUBJECTS AND METHODS

A sample of 98 BD patients and 97 healthy volunteers were included in the study. The Clinical Interview for DSM-IV Axis-I Disorders (SCID-I) was administered to all participants. The patients were evaluated with some scales (Sociodemographic and Clinical Data Form, The Young Mania Rating Scale (YMRS), the Hamilton Depression Rating Scale (HAM-D), and The Clinical Global Impression Scale (CGI)) in terms of clinical features and symptom severity. Blood samples were obtained from participants to isolate their DNA. PCR-RFLP was used to determine the PER3 gene variant.

RESULTS

The PER3 genotype (4/4, 4/5, 5/5) distribution of BD was found to be significantly different from the control group. There was a statistically significant difference in the PER3 genotype distribution between BD patients with SP and BD patients without SP. Again, the PER3 allele (4, 5) distributions of BD patients with the SP were statistically different from the control group. The BD patients' PER3 genotype distributions with a family history of BD were significantly different from the BD patients without family history or control group.

CONCLUSION

It was found that the VNTR variant of the PER3 gene (rs57875989) may be associated with the SP and family history of BD as well as the BD itself. Further studies with the VNTR variant of the PER3 gene (rs57875989) in different ethnic populations are also required to determine these polymorphisms' exact role in BD.

摘要

背景

昼夜节律失调被认为与双相情感障碍(BD)和抑郁症等精神疾病有关。我们旨在通过比较BD患者与健康对照者的基因型分布,并考虑临床参数,来评估BD的临床特征(主要是季节性模式(SP))与PERIOD3(PER3)基因(rs57875989)的可变数目串联重复(VNTR)变异之间的关系。

对象与方法

本研究纳入了98例BD患者和97名健康志愿者。对所有参与者进行了《精神障碍诊断与统计手册》第四版轴I障碍临床访谈(SCID-I)。使用一些量表(社会人口统计学和临床数据表、杨氏躁狂量表(YMRS)、汉密尔顿抑郁量表(HAM-D)和临床总体印象量表(CGI))对患者的临床特征和症状严重程度进行评估。从参与者采集血样以分离DNA。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法确定PER3基因变异。

结果

发现BD患者的PER3基因型(4/4、4/5、5/5)分布与对照组有显著差异。有SP的BD患者与无SP的BD患者在PER3基因型分布上存在统计学显著差异。同样,有SP的BD患者的PER3等位基因(4、5)分布与对照组在统计学上也不同。有BD家族史的BD患者的PER3基因型分布与无家族史的BD患者或对照组有显著差异。

结论

发现PER3基因(rs57875989)的VNTR变异可能与BD的SP、家族史以及BD本身有关。还需要在不同种族人群中对PER3基因(rs57875989)的VNTR变异进行进一步研究,以确定这些多态性在BD中的确切作用。

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