Genetics of extraversion

There are a number of candidate genes that may be implicated in traits for extraversion, discovered by GWAS studies. Known associations include genetic variants at the genes shown below.

Genetic Associations

  • AC027119.1 (SNP: rs6782143)1
  • RP11-141M1.3 (SNP: rs9598027)1
  • KIAA0802 (commonly known as MTCL1), Microtubule crosslinking factor 11,2
  • NET (SLC6A2), norepinephrine transporter3
  • CLOCK, involved in circadian rhythm control4
  • PACS1, which encodes phosphofurin acidic cluster sorting protein 1, a cytosolic protein controlling integration of membrane proteins5,6
  • BDNF, which encodes brain derived neurotropic factor, an important growth factor for neurogenesis7
  • ZNF180, which encodes zine finger protein 180. ZNF180 is also associated with openness on the personality scales.7
  • CDH23, which encodes cadherin 23, a protein expressed in the neurosensory epithelium7,8
  • CDH13, which encodes cadherin 13, which may act as a negative regular of nerve cell growth. Also known to play a role in attention. Cadherin genes such as CDH13 and CDH23 are known to be involved in other conditions including deafness.7,9
  • DAPK1, which encodes death-associated protein kinase 1, and is involved in hypermethylation and important for anti-inflammatory properties. It is also known to be linked to Alzheimer's disease.7,10
  • Val66Met7
  • RAB3GAP17
  • GFRA17
  • DCAMKL17
  1. Luciano, M., Huffman, J. E., Arias‐Vásquez, A., Vinkhuyzen, A. A., Middeldorp, C. M., Giegling, I., ... & Ke, X. (2012). Genome‐wide association uncovers shared genetic effects among personality traits and mood states. American Journal of Medical Genetics part B: Neuropsychiatric Genetics, 159(6), 684-695.

  2. Sato, Y., Akitsu, M., Amano, Y., Yamashita, K., Ide, M., Shimada, K., ... & Hayashi, I. (2013). The novel PAR-1-binding protein MTCL1 has crucial roles in organizing microtubules in polarizing epithelial cells. Journal of cell science, 126(20), 4671-4683.

  3. Narita, S., Iwahashi, K., Nagahori, K., Numajiri, M., Yoshihara, E., Ohtani, N., & Ishigooka, J. (2015). Analysis of Association between Norepinephrine Transporter Gene Polymorphisms and Personality Traits of NEO-FFI in a Japanese Population. Psychiatry investigation, 12(3), 381-387.

  4. Kovanen, L., Saarikoski, S. T., Aromaa, A., Lonnqvist, J., & Partonen, T. (2010). ARNTL (BMAL1) and NPAS2 gene variants contribute to fertility and seasonality. PLoS One, 5(4), e10007.

  5. Bae, H. T., Sebastiani, P., Sun, J. X., Andersen, S. L., Daw, E. W., Terracciano, A., ... & Perls, T. T. (2013). Genome-wide association study of personality traits in the long life family study. Frontiers in genetics, 4.

  6. Crump, C. M., Xiang, Y., Thomas, L., Gu, F., Austin, C., Tooze, S. A., & Thomas, G. (2001). PACS‐1 binding to adaptors is required for acidic cluster motif‐mediated protein traffic. The EMBO journal, 20(9), 2191-2201.

  7. Terracciano, A., Sanna, S., Uda, M., Deiana, B., Usala, G., Busonero, F., ... & Distel, M. A. (2010). Genome-wide association scan for five major dimensions of personality. Molecular psychiatry, 15(6), 647-656.

  8. Di Palma, F., Holme, R. H., Bryda, E. C., Belyantseva, I. A., Pellegrino, R., Kachar, B., ... & Noben-Trauth, K. (2001). Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nature genetics, 27(1), 103-107.

  9. Franke, B., Neale, B. M., & Faraone, S. V. (2009). Genome-wide association studies in ADHD. Hum Genet, 126(1), 13-50. doi:10.1007/s00439-009-0663-4

  10. Li, Y., Grupe, A., Rowland, C., Nowotny, P., Kauwe, J. S., Smemo, S., ... & Catanese, J. (2006). DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. Human molecular genetics, 15(17), 2560-2568.

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