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

Kim, Hanna; Roh, Seung-Ju; Sung, Yeon Ah; Chung, Hye Won; Lee, Jong‐Young; Cho, Juhee; Shin, Hocheol; Kim, Hyung-Lae

doi:10.1038/jhg.2013.75

Cited by 82 publications

(44 citation statements)

References 64 publications

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“…However, most of the results from these studies show weak effects, and associations that are not reproduced in independent samples (Terracciano et al ). Previously, we identified a novel region on olfactory receptor 1A2 ( OR1A2 ) that is associated with Neuroticism in young Korean women, which was reproduced in an independent cohort (Kim et al ). Nevertheless, the association of OR1A2 has not yet been found in other populations but our study.…”

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confidence: 65%

Pathway analysis of genome‐wide association datasets of personality traits

Kim

Cho

et al. 2015

Genes Brain and Behavior

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Although several genome-wide association (GWA) studies of human personality have been recently published, genetic variants that are highly associated with certain personality traits remain unknown, due to difficulty reproducing results. To further investigate these genetic variants, we assessed biological pathways using GWA datasets. Pathway analysis using GWA data was performed on 1089 Korean women whose personality traits were measured with the Revised NEO Personality Inventory for the 5-factor model of personality. A total of 1042 pathways containing 8297 genes were included in our study. Of these, 14 pathways were highly enriched with association signals that were validated in 1490 independent samples. These pathways include association of: Neuroticism with axon guidance [L1 cell adhesion molecule (L1CAM) interactions]; Extraversion with neuronal system and voltage-gated potassium channels; Agreeableness with L1CAM interaction, neurotransmitter receptor binding and downstream transmission in postsynaptic cells; and Conscientiousness with the interferon-gamma and platelet-derived growth factor receptor beta polypeptide pathways. Several genes that contribute to top-ranked pathways in this study were previously identified in GWA studies or by pathway analysis in schizophrenia or other neuropsychiatric disorders. Here we report the first pathway analysis of all five personality traits. Importantly, our analysis identified novel pathways that contribute to understanding the etiology of personality traits.

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confidence: 65%

Pathway analysis of genome‐wide association datasets of personality traits

Kim

Cho

et al. 2015

Genes Brain and Behavior

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“…There are reports of associations between PTPRD genomic variants and personality phenotypes. SNPs in the PTPRD telomeric/3′ flanking region display genome‐wide significant associations with openness in a female Korean sample and with agreeableness (but not openness) in another Korean meta‐analysis . A PTPRD intron 1 SNP displayed polygenic association with the N6 vulnerability neuroticism subscale in Korean samples .…”

Section: Ptprd Genomic Variation and Ptprd Associations With Human DImentioning

confidence: 89%

PTPRD: neurobiology, genetics, and initial pharmacology of a pleiotropic contributor to brain phenotypes

Uhl

Martínez

2019

Annals of the New York Academy of Sciences

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Receptor‐type protein tyrosine phosphatase, receptor type D (PTPRD) has likely roles as a neuronal cell adhesion molecule and synaptic specifier. Interest in its neurobiology and genomics has been stimulated by results from human genetics and mouse models for phenotypes related to addiction, restless leg syndrome, neurofibrillary pathology in Alzheimer's disease, cognitive impairment/intellectual disability, mood lability, and obsessive‐compulsive disorder. We review PTPRD's discovery, gene family, candidate homomeric and heteromeric binding partners, phosphatase activities, brain distribution, human genetic associations with nervous system phenotypes, and mouse model data relevant to these phenotypes. We discuss the recently reported discovery of the first small molecule inhibitor of PTPRD phosphatase, the identification of its addiction‐related effects, and the implications of these findings for the PTPRD‐associated brain phenotypes. In assembling PTPRD neurobiology, human genetics, and mouse genetic and pharmacological datasets, we provide a compelling picture of the roles played by PTPRD, its variation, and its potential as a target for novel therapeutics.

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“…Genome-wide association studies (GWAS) have discovered several variants associated with FFM traits 6–8 . Neuroticism was reported to be associated with an intronic variant in MAGI1 ( P =9.26×10 −9 , N=63,661) 7 , conscientiousness with an intronic variant in KATNAL2 ( P =4.9×10 −8 , N=17,375) 6 , and openness with variants near RASA1 ( P =2.8×10 −8 , N=17,375) 6 and near PTPRD ( P =1.67×10 −8 , N=1,089) 8 . Recent UK Biobank studies (N=106,716–170,908) yielded several single nucleotide polymorphisms (SNPs) associated with neuroticism 2,3 .…”

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confidence: 99%

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders

et al. 2016

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Summary Personality is influenced by genetic and environmental factors1, and associated with mental health. However, the underlying genetic determinants are largely unknown. We identified six genetic loci, including five novel loci2,3, significantly associated with personality traits in a meta-analysis of genome-wide association studies (N=123,132–260,861). Of these genome-wide significant loci, extraversion was associated with variants in WSCD2 and near PCDH15, and neuroticism with variants on chromosome 8p23.1 and in L3MBTL2. We performed a principal component analysis to extract major dimensions underlying genetic variations among five personality traits and six psychiatric disorders (N=5,422–18,759). The first genetic dimension separated personality traits and psychiatric disorders, except that neuroticism and openness to experience were clustered with the disorders. High genetic correlations were found between extraversion and attention-deficit/hyperactivity disorder (ADHD), and between openness and schizophrenia/bipolar disorder. The second genetic dimension was closely aligned with extraversion-introversion and grouped neuroticism with internalizing psychopathology (e.g., depression/anxiety).

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

Cited by 82 publications

References 64 publications

Pathway analysis of genome‐wide association datasets of personality traits

Pathway analysis of genome‐wide association datasets of personality traits

PTPRD: neurobiology, genetics, and initial pharmacology of a pleiotropic contributor to brain phenotypes

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders

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