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双相障碍人格的遗传力和连锁分析。

Heritability and linkage analysis of personality in bipolar disorder.

机构信息

Department of Psychiatry, University of California San Diego, 9500 Gilman Drive, Mail Code 0737, La Jolla, CA 92093, USA.

Department of Psychiatry, University of Chicago, Chicago, IL, USA.

出版信息

J Affect Disord. 2013 Nov;151(2):748-755. doi: 10.1016/j.jad.2013.06.015. Epub 2013 Aug 22.

Abstract

BACKGROUND

The many attempts that have been made to identify genes for bipolar disorder (BD) have met with limited success, which may reflect an inadequacy of diagnosis as an informative and biologically relevant phenotype for genetic studies. Here we have explored aspects of personality as quantitative phenotypes for bipolar disorder through the use of the Temperament and Character Inventory (TCI), which assesses personality in seven dimensions. Four temperament dimensions are assessed: novelty seeking (NS), harm avoidance (HA), reward dependence (RD), and persistence (PS). Three character dimensions are also included: self-directedness (SD), cooperativeness (CO), and self-transcendence (ST).

METHODS

We compared personality scores between diagnostic groups and assessed heritability in a sample of 101 families collected for genetic studies of BD. A genome-wide SNP linkage analysis was then performed in the subset of 51 families for which genetic data was available.

RESULTS

Significant group differences were observed between BD subjects, their first-degree relatives, and independent controls for all but RD and PS, and all but HA and RD were found to be significantly heritable in this sample. Linkage analysis of the heritable dimensions produced several suggestive linkage peaks for NS (chromosomes 7q21 and 10p15), PS (chromosomes 6q16, 12p13, and 19p13), and SD (chromosomes 4q35, 8q24, and 18q12).

LIMITATIONS

The relatively small size of our linkage sample likely limited our ability to reach genome-wide significance in this study.

CONCLUSIONS

While not genome-wide significant, these results suggest that aspects of personality may prove useful in the identification of genes underlying BD susceptibility.

摘要

背景

许多试图确定双相情感障碍 (BD) 基因的尝试都取得了有限的成功,这可能反映了诊断作为遗传研究的信息丰富和生物学相关表型的不足。在这里,我们通过使用评估七个维度人格的气质和性格特征量表 (TCI),探索了人格特质作为双相情感障碍的定量表型。四个气质维度被评估:新奇寻求 (NS)、回避伤害 (HA)、奖励依赖 (RD) 和坚持性 (PS)。还包括三个性格维度:自我导向 (SD)、合作性 (CO) 和自我超越 (ST)。

方法

我们比较了诊断组之间的人格评分,并在为 BD 遗传研究收集的 101 个家庭样本中评估了遗传度。然后在有遗传数据的 51 个家庭子集中进行了全基因组 SNP 连锁分析。

结果

除了 RD 和 PS 之外,BD 患者、一级亲属和独立对照组之间观察到所有维度都存在显著的组间差异,在该样本中,所有维度除了 HA 和 RD 之外都被发现具有显著的遗传性。遗传维度的连锁分析产生了几个对 NS(染色体 7q21 和 10p15)、PS(染色体 6q16、12p13 和 19p13)和 SD(染色体 4q35、8q24 和 18q12)的提示性连锁峰。

局限性

我们的连锁样本相对较小,这可能限制了我们在这项研究中达到全基因组显著水平的能力。

结论

虽然没有达到全基因组显著水平,但这些结果表明,人格特质的某些方面可能有助于确定双相情感障碍易感性的基因。

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