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全基因组关联研究五因素人格模型在年轻韩国女性中的应用。

Genome-wide association study of the five-factor model of personality in young Korean women.

机构信息

Department of Biochemistry, School of Medicine, Ewha Womans University, Seoul, Korea.

出版信息

J Hum Genet. 2013 Oct;58(10):667-74. doi: 10.1038/jhg.2013.75. Epub 2013 Aug 1.

Abstract

Personality is a determinant of behavior and lifestyle associated with health and human diseases. Although personality is known to be a heritable trait, its polygenic nature has made the identification of genetic variants elusive. We performed a genome-wide association study on 1089 Korean women aged 18-40 years whose personality traits were measured with the Revised NEO Personality Inventory for the five-factor model of personality. To reduce environmental factors that may influence personality traits, this study was restricted to young adult women. In the discovery phase, we identified variants of PTPRD (protein tyrosine phosphatase, receptor type D) that associated this gene with the Openness domain. Other genes that were previously reported to be associated with neurological phenotypes were also associated with personality traits. In particular, DRD1 and OR1A2 were linked to Neuroticism, NKAIN2 with Extraversion, HTR5A with Openness and DRD3 with Agreeableness. Data from our replication study of 2090 subjects confirmed the association between OR1A2 and Neuroticism. We first identified and confirmed a novel region on OR1A2 associated with Neuroticism [corrected]. Candidate genes for psychiatric disorders were also enriched. These findings contribute to our understanding of the genetic architecture of personality traits and provide critical clues to the neurobiological mechanisms that influence them.

摘要

人格是与健康和人类疾病相关的行为和生活方式的决定因素。尽管人格是一种可遗传的特征,但它的多基因性质使得识别遗传变异变得困难。我们对 1089 名年龄在 18-40 岁的韩国女性进行了全基因组关联研究,这些女性的人格特质是用修订后的 NEO 人格量表五因素模型进行测量的。为了减少可能影响人格特质的环境因素,本研究仅限于年轻成年女性。在发现阶段,我们确定了 PTPRD(蛋白酪氨酸磷酸酶,受体型 D)的变体,该变体与开放性领域相关。先前报道与神经表型相关的其他基因也与人格特质相关。特别是,DRD1 和 OR1A2 与神经质有关,NKAIN2 与外向性有关,HTR5A 与开放性有关,DRD3 与宜人性有关。我们对 2090 名受试者的复制研究数据证实了 OR1A2 与神经质之间的关联。我们首次确定并证实了与神经质相关的 OR1A2 上的一个新区域[已纠正]。精神障碍的候选基因也得到了富集。这些发现有助于我们理解人格特质的遗传结构,并为影响它们的神经生物学机制提供关键线索。

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