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Pathway analysis of genome‐wide association datasets of personality traits
Authors:H.‐N. Kim  B.‐H. Kim  J. Cho  S. Ryu  H. Shin  J. Sung  C. Shin  N. H. Cho  Y. A. Sung  B.‐O. Choi  H.‐L. Kim
Affiliation:1. Department of Biochemistry, School of Medicine, Ewha Womans University, Seoul, Republic of Korea;2. Center for Cohort Studies, Total Healthcare Center, Kangbuk Samsung Hospital, Sungkyunkwan University, School of Medicine, Seoul, Republic of Korea;3. Department of Health Sciences and Technology, SAHIST, Sungkyunkwan University, Seoul, Republic of Korea;4. Department of Health, Behavior and Society and Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA;5. Department of Occupational Medicine, Kangbuk Samsung Hospital, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea;6. Department of Family Medicine and Health Screening Center, Kangbuk Samsung Hospital, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea;7. Complex Disease and Genome Epidemiology Branch, Department of Epidemiology, School of Public Health, Seoul National University, Seoul, Republic of Korea;8. Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Korea University Ansan Hospital, Ansan;9. Department of Preventive Medicine, School of Medicine, Ajou University, Suwon, Republic of Korea;10. Department of Internal Medicine, School of Medicine, Ewha Womans University, Seoul, Republic of Korea;11. Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
Abstract:
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.
Keywords:Axon guidance  behavior  Big Five personality  CAM  five‐factor model  genome‐wide association study  GWA study  pathway analysis  personality  potassium channel
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