«Исчезающая наследуемость» – новый парадокс в контексте старой проблемы

«Исчезающая наследуемость» – лингвистическая метафора, отражающая феномен рассогласования оценок влияния генотипа на функционирование психики в норме и патологии, которые фиксируются двумя разными методами: популяционным и молекулярно-генетическим. С одной стороны, в популяционных исследованиях лиц, состоящих в родстве (близнецы, сиблинги, родители – дети), при оценке их когнитивных и личностных особенностей были получены достаточно высокие значения основного статистического показателя – наследуемости. С другой стороны, в молекулярно-генетических исследованиях было установлено, что отдельные генетические полиморфизмы не могут объяснить большую часть наследуемости такого рода особенностей психики как в норме, так и при психических расстройствах. В статье рассматривается история вопроса, анализируются возможные причины возникновения данного феномена и пути выхода из сложившейся ситуации.

1. Alfimova M.V., Golimbet V.E. Geny i neirofiziologicheskie pokazateli kognitivnykh protsessov [Genes and neurophysiological indicators of cognitive processes]: Obzor issledovanii. Zhurnal vysshei nervnoi deyatel'nosti [Journal higher nervous activity], 2011. Vol. 61, no. 4, pp. 389–401. (In Russ., Abstr. in Engl.).
2. Kolchanov N.A. et al. Gennye seti [Elektronnyi resurs] [Gene Network]. Vavilovskii zhurnal genetiki i selektsii [Vavilov Journal of Genetics and Breeding], 2013. Vol. 17, no. 4/2, pp. 833–850. URL: http://www.bionet.nsc.ru/vogis/download/17-4/2/07Kolchanov.pdf (Accessed: 11.08.2016). (In Russ., Abstr. in Engl.).
3. Grigorenko E.L. Biologicheskaya priroda disleksii [Elektronnyi resurs] [The biological nature of dyslexia]: Kratkii obzor literatury i primery issledovanii. Psikhologiya. Zhurnal Vysshei shkoly ekonomiki [Psychology. Journal of Higher School of Economics], 2010. T. 7, no. 4, pp. 20–44. URL: http://cyberleninka.ru/article/n/biologicheskaya-priroda-disleksii-kratkiy-obzor-literatury-i-primery-issledovaniy (Accessed: 11.08.2016). (In Russ., Abstr. in Engl.).
4. Lartseva A. Ot genoma do povedeniya. Nekotorye voprosy sovremennoi kognitivnoi genetiki [From the genome to the behavior. Some of the problems of modern cognitive genetics]. Logos [Logos], 2014. Vol. 97, no. 1, pp. 155–170. (In Russ., Abstr. in Engl.).
5. Maryutina T.M. Endofenotipy v psikhiatricheskoi genetike: opyt desyati let izucheniya [Elektronnyi resurs] [Endophenotypes of psychiatric genetics: the experience of ten years of study]: Obzor literatury. Sovremennaya zarubezhnaya psikhologiya [Modern foreign psychology]. 2013. Vol. 2, no. 4, pp. 45–58. URL: https://psyjournals.ru/jmfp/2013/n4/65485.shtml (Accessed: 11.08.2016). (In Russ., Abstr. in Engl.).
6. Ehret G.B. et al. A Multi-SNP Locus-Association Method Reveals a Substantial Fraction of the Missing Heritability. The American Journal of Human Genetics, 2012. Vol. 91, no. 5, pp. 863–871. doi: 10.1016/j.ajhg.2012.09.013
7. Barnett J.H., Scoriels L., Munafo M.R. Meta-Analysis of the Cognitive Effects of the Catechol-O-Methyltransferase Gene Val158/108Met Polymorphism. Biological Psychiatry, 2008. Vol. 64, no. 2, pp. 137–144. doi: 10.1016/j.biopsych.2008.01.005
8. Tunbridge E.M. et al. Catechol-O-methyltransferase, cognition, and psychosis: Val158Met and beyond. Biological Psychiatry, 2006. Vol. 60, no. 2, pp. 141–151. doi: 10.1016/j.biopsych.2005.10.024
9. Heng H.H. et al. Decoding the genome beyond sequencing: The new phase of genomic research. New Genomic Technologies and Applications, 2011. Vol. 98, no. 4, pp. 242–252. doi: 10.1016/j.ygeno.2011.05.008
10. Zhu Z. et al. Dominance Genetic Variation Contributes Little to the Missing Heritability for Human Complex Traits. American Journal of Human Genetics, 2015. Vol. 96, no. 3, pp. 377–385. doi: 10.1016/j.ajhg.2015.01.001
11. Chen X.  et al. Dominant Genetic Variation and Missing Heritability for Human Complex Traits: Insights from Twin versus Genome-wide Common SNP Models. The American Journal of Human Genetics, 2015. Vol. 97, no. 5, pp. 708-714. doi: 10.1016/j.ajhg.2015.10.004
12. Trerotola M. et al. Epigenetic inheritance and the missing heritability. Hum Genomics, 2015. Vol. 9, no. 17, pp. 1–12. doi: 10.1186/s40246-015-0041-3
13. Lee S.H. et al.Estimating Missing Heritability for Disease from Genome-wide Association Studies. The American Journal of Human Genetics, 2011. Vol. 88, no. 3, pp. 294–305. doi:10.1016/j.ajhg.2011.02.002
14. Manolio T. et al. Finding the missing heritability of complex diseases. Nature, 2009. Vol. 461, no 7265, pp. 747–753. doi: 10.1038/nature08494
15. Visscher P.M. et al. Five Years of GWAS Discovery. The American Journal of Human Genetics, 2012. Vol. 90, no. 1, pp.7–24. doi: 10.1016/j.ajhg.2011.11.029
16. Goldsmith H.H. Continuity of Personality. A Genetic Perspective. Continuities and Discontinuities in Development. R.N. Emde, R.Y. Harmon (eds). Boston, MA: Springer US, 1984, pp. 403–414. doi: 10.1007/978-1-4613-2725-7
17. Eichler E.E. et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nature Reviews Genetics, 2010. Vol. 11, no. 6, pp. 446–450. doi:10.1038/nrg2809
18. Hunt K.A. et al. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 2013. Vol. 498. no. 7453, pp. 232–235. doi: 10.1038/nature12170
19. Plomin R. Child development and molecular genetics: 14 years later. Child Development, 2013. Vol. 84, no. 1, pp. 104–120. doi: 10.1111/j.1467-8624.2012.01757.x
20. Richardson K. The eclipse of heritability and the foundations of intelligence. New Ideas in Psychology, 2013. Vol. 31, no. 2, pp. 122–129. doi: 10.1016/j.newideapsych.2012.08.002
21. Zuk O. et al. Searching for missing heritability: designing rare variant association studies. Proceedings of the National Academy of Sciences, 2013. Vol. 111, no. 4, pp. 455–464. doi: 10.1073/pnas.1322563111
22. Slatkin M. Epigenetic Inheritance and the Missing Heritability Problem. Genetics, 2009. Vol. 182, no. 3, pp. 845–850. doi:10.1534/genetics.109.102798
23. DeYoung C.G. et al. Sources of cognitive exploration: Genetic variation in the prefrontal dopamine system predicts Openness/Intellect. Journal of Research in Personality, 2011. Vol. 45, no. 4, pp. 364–371. doi: 10.1016/j.jrp.2011.04.002
24. Zuk O. et al. The mystery of missing heritability: Genetic interactions create phantom heritability. Proceedings of the National Academy of Sciences, 2011. Vol. 109, no. 4, pp. 1193–1198. doi:10.1073/pnas.1119675109
25. R. Plomin, et al. Top 10 Replicated Findings From Behavioral Genetics. Perspectives on Psychological Science, 2016. Vol. 11, no. 1, pp. 3–23. doi: 10.1177/1745691615617439
26. Visvikis-Siest S. Gene-environment interactions and missing heritability. Clinical Biochemistry, 2013. Vol. 46, no. 12, pp. 1149. doi: 10.1016/j.clinbiochem.2013.05.018

PlumX

Метрики публикации