정신장애의 진화유전학적 모델

Evolutionary Genetic Models of Mental Disorders

  • 박한선 (서울대학교 사회과학대학 인류학과)
  • Park, Hanson (Department of Anthropology, Seoul National University College of Social Science)
  • 투고 : 2019.04.08
  • 심사 : 2019.05.29
  • 발행 : 2019.10.31

초록

Psychiatric disorder as dysfunctional behavioural syndrome is a paradoxical phenomenon that is difficult to explain evolutionarily because moderate prevalence rate, high heritability and relatively low fitness are shown. Several evolutionary genetic models have been proposed to address this paradox. In this paper, I explain each model by dividing it into selective neutrality, mutation-selection balance, and balancing selection hypothesis, and discuss the advantages and disadvantages of them. In addition, the feasibility of niche specialization and frequency dependent selection as the plausible explanation about the central paradox is briefly discussed.

키워드

참고문헌

  1. Hunt J, Hodgson D. What is fitness, and how do we measure it. In: Westmeat D, Fox CW, editors. Evolutionary Behavioral Ecology. New York, NY: Oxford University Press;2010. p.46-70.
  2. WHO. The World Health Report 2001: Mental health: New Understanding, New Hope. Geneva: World Health Organization;2001.
  3. Kessler RC, Berglund P, Demler O, Jin R, Merikangas KR, Walters EE. Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication. Arch Gen Psychiatry 2005;62:593-602. https://doi.org/10.1001/archpsyc.62.6.593
  4. Wittchen HU, Jacobi F, Rehm J, Gustavsson A, Svensson M, Jonsson B, et al. The size and burden of mental disorders and other disorders of the brain in Europe 2010. Eur Neuropsychopharmacol 2011;21:655-679. https://doi.org/10.1016/j.euroneuro.2011.07.018
  5. Smoller JW, Tsuang MT. Panic and phobic anxiety: defining phenotypes for genetic studies. Am J Psychiatry 1998;155:1152-1162. https://doi.org/10.1176/ajp.155.9.1152
  6. Maki P, Veijola J, Jones PB, Murray GK, Koponen H, Tienari P, et al. Predictors of schizophrenia--a review. Br Med Bull 2005;73-74:1-15. https://doi.org/10.1093/bmb/ldh046
  7. Uher R. The role of genetic variation in the causation of mental illness: an evolution-informed framework. Mol Psychiatry 2009;14:1072-1082. https://doi.org/10.1038/mp.2009.85
  8. Cross-Disorder Group of the Psychiatric Genomics Consortium. Erratum: Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 2013;381:1371-1379. https://doi.org/10.1016/S0140-6736(12)62129-1
  9. Hettema JM, Prescott CA, Myers JM, Neale MC, Kendler KS. The structure of genetic and environmental risk factors for anxiety disorders in men and women. Arch Gen Psychiatry 2005;62:182-189. https://doi.org/10.1001/archpsyc.62.2.182
  10. Keller MC, Miller G. Resolving the paradox of common, harmful, heritable mental disorders: which evolutionary genetic models work best? Behav Brain Sci 2006;29:385-404. https://doi.org/10.1017/s0140525x06009095
  11. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-1517. https://doi.org/10.1126/science.273.5281.1516
  12. Lander ES. The new genomics: global views of biology. Science 1996;274:536-539. https://doi.org/10.1126/science.274.5287.536
  13. Park H. Evolutionary Approaches toward Psychiatry. J Korean Neuropsychiatr Assoc 2014;53:347-357. https://doi.org/10.4306/jknpa.2014.53.6.347
  14. Cartwright J. Evolution and Human Behaviour: Darwinian Perspectives on the Human Condition. 3rd ed. New York, NY: Palgrave;2016.
  15. Huxley J, Mayr E, Osmond H, Hoffer A. Schizophrenia as a genetic morphism. Nature 1964;204:220-221. https://doi.org/10.1038/204220a0
  16. Herron JC, Freeman S. Evolutionary Analysis. 5th ed. Boston, MA: Pearson;2014.
  17. Estrada-Mena B, Estrada FJ, Ulloa-Arvizu R, Guido M, Mendez R, Coral R, et al. Blood group O alleles in Native Americans: implications in the peopling of the Americas. Am J Phys Anthropol 2010;142:85-94. https://doi.org/10.1002/ajpa.21204
  18. Lynch M, Hill WG. Phenotypic evolution by neutral mutation. Evolution 1986;40:915-935. https://doi.org/10.2307/2408753
  19. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999;22:231-238. https://doi.org/10.1038/10290
  20. Merila J, Sheldon BC. Genetic architecture of fitness and nonfitness traits: empirical patterns and development of ideas. Heredity (Edinb) 1999;83:103-109. https://doi.org/10.1046/j.1365-2540.1999.00585.x
  21. Crnokrak P, Roff DA. Dominance variance: associations with selection and fitness. Heredity 1995;75:530-540. https://doi.org/10.1038/hdy.1995.169
  22. Eaves LJ, Heath AC, Neale MC, Hewitt JK, Martin NG. Sex differences and non-additivity in the effects of genes on personality. Twin Res 1998;1:131-137. https://doi.org/10.1375/twin.1.3.131
  23. Keller MC, Coventry WL, Heath AC, Martin NG. Widespread evidence for non-additive genetic variation in Cloninger's and Eysenck's personality dimensions using a twin plus sibling design. Behav Genet 2005;35:707-721. https://doi.org/10.1007/s10519-005-6041-7
  24. Bouchard TJ Jr, Lykken DT, McGue M, Segal NL, Tellegen A. Sources of human psychological differences: the Minnesota study of twins reared apart. Science 1990;250:223-228. https://doi.org/10.1126/science.2218526
  25. Eaves L, Heath A, Martin N, Maes H, Neale M, et al. Comparing the biological and cultural inheritance of personality and social attitudes in the Virginia 30,000 study of twins and their relatives. Twin Res 1999;2:62-80. https://doi.org/10.1375/twin.2.2.62
  26. Penke L, Denissen JJA, Miller GF. The evolutionary genetics of personality. Eur J Pers 2007;21:549-587. https://doi.org/10.1002/per.629
  27. Keightley PD, Gaffney DJ. Functional constraints and frequency of deleterious mutations in noncoding DNA of rodents. Proc Natl Acad Sci U S A 2003;100:13402-13406. https://doi.org/10.1073/pnas.2233252100
  28. Eyre-Walker A, Keightley PD. High genomic deleterious mutation rates in hominids. Nature 1999;397:344-347. https://doi.org/10.1038/16915
  29. Stirling D, Reale D, Roff DA. Selection, structure and the heritability of behaviour. J Evol Biol 2002;15:277-289. https://doi.org/10.1046/j.1420-9101.2002.00389.x
  30. Hughes KA, Burleson MH. Evolutionary causes of genetic variation in fertility and other fitness components. In: Rodgers JL, Rowe DC, iller WB, editors. Genetic Influences on Human Fertility and Sexuality: Theoretical and Empirical Contributions from the Biological and Behavioral Sciences. Norwell, MA: Kluwer Academin Publishers; 2000. p.7-33.
  31. Houle D. Comparing evolvability and variability of quantitative traits. Genetics 1992;130:195-204. https://doi.org/10.1093/genetics/130.1.195
  32. Cannon TD, Keller MC. Endophenotypes in the genetic analyses of mental disorders. Annu Rev Clin Psychol 2006;2:267-290. https://doi.org/10.1146/annurev.clinpsy.2.022305.095232
  33. Lykken DT, Tellegen A. Is human mating adventitious or the result of lawful choice? A twin study of mate selection. J Pers Soc Psychol 1993;65:56-68. https://doi.org/10.1037/0022-3514.65.1.56
  34. Figueredo AJ, Sefcek JA, Jones DN. The ideal romantic partner personality. Pers Individ Dif 2006;41:431-441. https://doi.org/10.1016/j.paid.2006.02.004
  35. Bergmuller R, Taborsky M. Adaptive behavioural syndromes due to strategic niche specialization. BMC Ecol 2007;7:12. https://doi.org/10.1186/1472-6785-7-12
  36. Roff DA. Evolutionary Quantitative Genetics. New York, NY: Chapman & Hall;1997.
  37. Turelli M, Barton NH. Polygenic variation maintained by balancing selection: pleiotropy, sex-dependent allelic effects and G x E interactions. Genetics 2004;166:1053-1079. https://doi.org/10.1534/genetics.166.2.1053
  38. Sulloway FJ. Born to Rebel: Birth Order, Family Dynamics, and Creative Lives. New York, NY: Pantheon Books;1996.
  39. Tooby J, Cosmides L. On the universality of human nature and the uniqueness of the individual: the role of genetics and adaptation. J Pers 1990;58:17-67. https://doi.org/10.1111/j.1467-6494.1990.tb00907.x
  40. Bond AB, Kamil AC. Apostatic selection by blue jays produces balanced polymorphism in virtual prey. Nature 1998;395:594-596. https://doi.org/10.1038/26961
  41. McGrath J, Saha S, Chant D, Welham J. Schizophrenia: a concise overview of incidence, prevalence, and mortality. Epidemiol Rev 2008;30:67-76. https://doi.org/10.1093/epirev/mxn001
  42. Moreira ALR, Van Meter A, Genzlinger J, Youngstrom EA. Review and meta-analysis of epidemiologic studies of adult bipolar disorder. J Clin Psychiatry 2017;78:e1259-e1269. https://doi.org/10.4088/JCP.16r11165
  43. Manolio TA. Genomewide association studies and assessment of the risk of disease. N Engl J Med 2010;363:166-176. https://doi.org/10.1056/NEJMra0905980
  44. Ng MY, Levinson DF, Faraone SV, Suarez BK, DeLisi LE, Arinami T, et al. Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry 2009;14:774-785. https://doi.org/10.1038/mp.2008.135
  45. International Schizophrenia Consortium, Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009;460:748-752. https://doi.org/10.1038/nature08185
  46. Wang KS, Liu XF, Aragam N. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Schizophr Res 2010;124:192-199. https://doi.org/10.1016/j.schres.2010.09.002
  47. Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium. Genome-wide association study identifies five new schizophrenia loci. Nat Genet 2011;43:969-976. https://doi.org/10.1038/ng.940
  48. Sullivan PF, Daly MJ, O'Donovan M. Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat Rev Genet 2012;13:537-551. https://doi.org/10.1038/nrg3240
  49. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008;455:237-241. https://doi.org/10.1038/nature07239
  50. Sullivan PF, Kendler KS, Neale MC. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch Gen Psychiatry 2003;60:1187-1192. https://doi.org/10.1001/archpsyc.60.12.1187
  51. Drent PJ, van Noordwijk AJ, van Oers K, de Jong G, Kempenaers B. Contribution of genetics to the study of animal personalities: a review of case studies. Behaviour 2005;142:1185-1206. https://doi.org/10.1163/156853905774539364
  52. Nettle D. The evolution of personality variation in humans and other animals. Am Psychol 2006;61:622-631. https://doi.org/10.1037/0003-066X.61.6.622