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健康对照人群以及有情绪障碍家族风险个体中的环性心境气质:基因研究的内表型?

The cyclothymic temperament in healthy controls and familially at risk individuals for mood disorder: endophenotype for genetic studies?

作者信息

Chiaroni Pierre, Hantouche E-G, Gouvernet J, Azorin J-M, Akiskal H S

机构信息

Service de Psychiatrie, Hôpital Sainte Marguerite, Bd. Sainte-Marguerite, 13009 Marseille, France.

出版信息

J Affect Disord. 2005 Mar;85(1-2):135-45. doi: 10.1016/j.jad.2003.12.010.

DOI:10.1016/j.jad.2003.12.010
PMID:15780684
Abstract

BACKGROUND

The modern concept of affective disorders focuses increasingly on the study of subthreshold conditions on the border of manic or depressive episodes. Indeed, a spectrum of affective conditions spanning from temperament to clinical episodes has been proposed by the senior author. As bipolar disorder is a familial illness, an examination of cyclothymic temperament (CT) in controls and relatives of bipolar patients is of major relevance.

METHODS

We recruited a total sample of 177 healthy symptom-free volunteers. These controls were divided into three groups. The first one is comprised of 100 normal subjects with a negative familial affective history (NFH); the second of 37 individuals, with positive affective family history (PFH); and a third of 40 subjects, with at least one sib or first-degree kin with bipolar disorder type I according to the DSM-IV (BPR). The last two groups defined at risk individuals. We interviewed all subjects with CT, as described by the senior author.

RESULTS

We found a statistically significant difference in the rates of CT between the subjects in BPR versus others. CT was also more prevalent in the PFH compared with NFH. Additionally, the simple numeration of the CT traits exhibited gradation in the distribution of individuals inside the NFH, PFH and BPR. Finally, categorically defined CT and CT traits predominated in females. LIMITATION and

CONCLUSION

Although not all relatives of bipolar probands were studied, our results exhibit an aggregation of CT in families with affective disorder-and more specifically those with bipolar background. These results allow us to propose the importance of including CT for phenotypic characterization of bipolar disorder. Furthermore, our results support a spectrum concept of bipolar disorder, whereby CT is distributed in ascending order in the well-relatives of those with depressive and bipolar disorders. We submit that this temperament represents a behavioral endophenotype, serving as a link between molecular and behavioral genetics.

摘要

背景

情感障碍的现代概念越来越注重对躁狂或抑郁发作边缘的阈下状态的研究。实际上,资深作者提出了一系列从气质到临床发作的情感状况。由于双相情感障碍是一种家族性疾病,对双相情感障碍患者的对照者和亲属进行环性心境气质(CT)检查具有重要意义。

方法

我们招募了177名无健康症状的志愿者作为总样本。这些对照者被分为三组。第一组由100名有阴性家族情感病史(NFH)的正常受试者组成;第二组由37名有阳性情感家族病史(PFH)的个体组成;第三组由40名根据《精神疾病诊断与统计手册》第四版(DSM-IV)患有I型双相情感障碍的至少一名兄弟姐妹或一级亲属的受试者组成(BPR)。最后两组定义为有风险个体。我们按照资深作者描述的方法,对所有受试者进行了CT访谈。

结果

我们发现BPR组受试者与其他组受试者之间的CT发生率存在统计学上的显著差异。与NFH相比,CT在PFH中也更普遍。此外,CT特征的简单计数在NFH、PFH和BPR组个体分布中呈现出梯度变化。最后,明确界定的CT和CT特征在女性中占主导。局限性和结论:尽管并非所有双相情感障碍先证者的亲属都被研究,但我们的结果显示CT在情感障碍家族中——尤其是那些有双相情感障碍背景的家族中聚集。这些结果使我们能够提出将CT纳入双相情感障碍表型特征描述的重要性。此外,我们的结果支持双相情感障碍的谱系概念,即CT在抑郁和双相情感障碍患者的健康亲属中按升序分布。我们认为这种气质代表一种行为内表型,是分子遗传学和行为遗传学之间的联系。

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