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Personality traits /humans/molecular genetics/Munafò: The majority of genetic association studies of human personality traits have focused on anxiety-related traits, due in part to the relationship between these traits and major depressive disorder, and evidence that this relationship is due to shared genetic factors (Fanous and Kendler 2004)(1).
A functional polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR) has been identified, comprising a 44bp deletion (short) or insertion (long), and is known to be associated with altered serotonin activity, with the short (S) form of this polymorphism being associated with reduced transcriptional efficiency compared to the long (L) form, thereby decreasing serotonin transporter expression and serotonin uptake (Heils, Teufel, Petri et al. 1996)(2). The short allele has also been reported to be associated with elevated anxiety-related traits (Munafò, Clark and Flint 2005(3); Munafò, Clark, Moore et al. 2003(4); Schinka, Busch and Robichaux-Keene 2004(5); Sen, Burmeister and Ghosh 2004(6)).
Recent evidence suggests that a single nucleotide polymorphism in the 5-HTTLPR, comprising a G>A substitution, may modulate the effect of the 44bp variant (Parsey, Hastings, Oquendo et al. 2006)(7). Including this variant in addition to the more commonly investigated 44bp variant may capture a greater proportion of genetic variance, and thereby increase the likelihood of detecting association with behavioural traits. See >Extraversion/molecular genetics.
1. Fanous, A. H. and Kendler, K. S. 2004. The genetic relationship of personality to major depression and schizophrenia, Neurotoxicology Results 6: 43–50
2. Heils, A., Teufel, A., Petri, S., Stober, G., Riederer, P., Bengel, D. and Lesch, K. P. 1996. Allelic variation of human serotonin transporter gene expression, Journal of Neurochemistry 66: 2621–4
3. Munafò, M. R., Clark, T. G. and Flint, J. 2005. Does measurement instrument moderate the association between the serotonin transporter gene and anxiety-related personality traits? A meta-analysis, Molecular Psychiatry 10: 415–19
4. Munafò, M. R., Clark, T. G., Moore, L. R., Payne, E., Walton, R. and Flint, J. 2003. Genetic polymorphisms and personality in healthy adults: a systematic review and meta-analysis, Molecular Psychiatry 8: 471–84
5. Schinka, J. A., Busch, R. M. and Robichaux-Keene, N. 2004. A meta-analysis of the association between the serotonin transporter gene polymorphism (5-HTTLPR) and trait anxiety, Molecular Psychiatry 9: 197–202
6. Sen, S., Burmeister, M. and Ghosh, D. 2004. Meta-analysis of the association between a serotonin transporter promoter polymorphism (5-HTTLPR) and anxiety-related personality traits, American Journal of Medical Genetics B Neuropsychiatric Genetics 127: 85–9
7. Parsey, R. V., Hastings, R. S., Oquendo, M. A., Hu, X., Goldman, D., Huang, Y. Y. et al. 2006. Effect of a triallelic functional polymorphism of the serotonin-transporter-linked promoter region on expression of serotonin transporter in the human brain, American Journal of Psychiatry 163: 48–51
Marcus R. Munafò,“Behavioural genetics: from variance to DNA“, in: Corr, Ph. J. & Matthews, G. (eds.)2009. The Cambridge handbook of Personality Psychology. New York: Cambridge University Press_____________Explanation of symbols: Roman numerals indicate the source, arabic numerals indicate the page number. The corresponding books are indicated on the right hand side. ((s)…): Comment by the sender of the contribution. The note [Author1]Vs[Author2] or [Author]Vs[term] is an addition from the Dictionary of Arguments. If a German edition is specified, the page numbers refer to this edition.
Philip J. Corr
The Cambridge Handbook of Personality Psychology New York 2009
Philip J. Corr (Ed.)
Personality and Individual Differences - Revisiting the classical studies Singapore, Washington DC, Melbourne 2018