Skip to main content Accessibility help
×
Home
  • Print publication year: 2020
  • Online publication date: March 2020

12 - Behavioral and Molecular Genetics

from Part III - Experimental and Biological Approaches

Summary

Behavioral genetic research unequivocally supports the influence of both genetic and environmental factors on psychopathology risk. Decomposition of the sources of these influences has largely been carried out using twin and adoption studies. Building off the results of these studies, molecular genetic methodologies have come to dominate the field with the goal of identifying genetic variants that causally influence psychopathology risk. The chapter summarizes the logic of both quantitative and molecular genetic methods as well as their major findings as related to clinical psychology. Traditional and modern methods for estimating heritability based on familial relationships are described. From there the challenge of finding causal genetic variants in the context of polygenic phenotypes, including psychopathology, emerges. The chapter concludes by discussing the interaction between genes and the environment as well as future directions in the field, including rare variant analysis and epigenetics. An emphasis is placed on interpretation of results and limitations of past and current methodologies. Behavioral genetic research has produced strong results regarding the importance of genetic factors on psychopathology while also highlighting the influence of the environment. Uncovering the causal sources of these effects remains a young but active area of research.

Related content

Powered by UNSILO
1000 Genomes Project Consortium, Auton, A., Brooks, L. D., Durbin, R. M., Garrison, E. P., Kang, H. M., … Abecasis, G. R. (2015). A Global Reference for Human Genetic Variation. Nature, 526(7571), 6874.
Addington, A. M., & Rapoport, J. L. (2012). Annual Research Review: Impact of Advances in Genetics in Understanding Developmental Psychopathology. Journal of Child Psychology and Psychiatry, 53(5), 510518.
Anastasi, A. (1958). Heredity, Environment, and the Question How? Psychological Review, 65(4), 197208.
Andrew, T., Hart, D. J., Snieder, H., Lange, M. de, Spector, T. D., & MacGregor, A. J. (2001). Are Twins and Singletons Comparable? A Study of Disease-Related and Lifestyle Characteristics in Adult Women. Twin Research and Human Genetics, 4(6), 464477.
Antonarakis, S. E., & Beckmann, J. S. (2006). Mendelian Disorders Deserve More Attention. Nature Reviews Genetics, 7(4), 277282.
Arranz, M. J., & de Leon, J. (2007). Pharmacogenetics and Pharmacogenomics of Schizophrenia: A Review of Last Decade of Research. Molecular Psychiatry, 12(8), 707747.
Autism Spectrum Disorders Working Group of the Psychiatric Genomics Consortium. (2017). Meta-analysis of GWAS of over 16,000 Individuals with Autism Spectrum Disorder Highlights a Novel Locus at 10q24.32 and a Significant Overlap with Schizophrenia. Molecular Autism, 8, 21.
Bassett, A. S., & Chow, E. W. C. (2008). Schizophrenia and 22q11.2 Deletion Syndrome. Current Psychiatry Reports, 10(2), 148157.
Bin, Xu, Roos, J. L., Levy, S., van Rensburg, E. J., Gogos, J. A., & Karayiorgou, M. (2008). Strong Association of De Novo Copy Number Mutations with Sporadic Schizophrenia. Nature Genetics, 40(7), 880885.
Boomsma, D., Busjahn, A., & Peltonen, L. (2002). Classical Twin Studies and Beyond. Nature Reviews Genetics, 3(11), 872882.
Boraska, V., Franklin, C. S., Floyd, J. a. B., Thornton, L. M., Huckins, L. M., Southam, L., … Bulik, C. M. (2014). A Genome-Wide Association Study of Anorexia Nervosa. Molecular Psychiatry, 19(10), 10851094.
Buckholtz, J. W., & Meyer-Lindenberg, A. (2012). Psychopathology and the Human Connectome: Toward a Transdiagnostic Model of Risk for Mental Illness. Neuron, 74(6), 9901004.
Bulik, C. M., Sullivan, P. F., Tozzi, F., Furberg, H., Lichtenstein, P., & Pedersen, N. L. (2006). Prevalence, Heritability, and Prospective Risk Factors for Anorexia Nervosa. Archives of General Psychiatry, 63(3), 305312.
Burbridge, D. (2001). Francis Galton on Twins, Heredity and Social Class. British Journal for the History of Science, 34(3), 323340.
Burt, S. A. (2009). Rethinking Environmental Contributions to Child and Adolescent Psychopathology: A Meta-Analysis of Shared Environmental Influences. Psychological Bulletin, 135(4), 608637.
Bush, W. S., & Moore, J. H. (2012). Chapter 11: Genome-Wide Association Studies. PLOS Computational Biology, 8(12), e1002822.
Carlborg, Ö., Haley, C. S., & Carlborg, O. (2004). Epistasis: Too Often Neglected in Complex Trait Studies? Nature Reviews Genetics, 5(8), 618625.
Caspi, A., Sugden, K., Moffitt, T. E., Taylor, A., Craig, I. W., Harrington, H., … Poulton, R. (2003). Influence of Life Stress on Depression: Moderation by a Polymorphism in the 5-HTT Gene. Science, 301(5631), 386389.
Caspi, A., Moffitt, T. E., Cannon, M., McClay, J., Murray, R., Harrington, H., … Craig, I. W. (2005). Moderation of the Effect of Adolescent-Onset Cannabis Use on Adult Psychosis by a Functional Polymorphism in the Catechol-O-Methyltransferase Gene: Longitudinal Evidence of a Gene X Environment Interaction. Biological Psychiatry, 57(10), 11171127.
Chen, C.-H., Lee, C.-S., Lee, M.-T. M., Ouyang, W.-C., Chen, C.-C., Chong, M.-Y., … Cheng, A. T.-A. (2014). Variant GADL1 and Response to Lithium Therapy in Bipolar I Disorder. New England Journal of Medicine, 370(2), 119128.
Chial, H. (2008). Rare Genetic Disorders: Learning about Genetic Disease through Gene Mapping, SNPs, and Microarray Data. Nature Education, 1(1), 192.
Costas, J., Sanjuán, J., Ramos-Ríos, R., Paz, E., Agra, S., Tolosa, A., … Arrojo, M. (2011). Interaction between COMT Haplotypes and Cannabis in Schizophrenia: A Case-Only Study in Two Samples from Spain. Schizophrenia Research, 127(1–3), 2227.
Crespi, B. J. (2016). Autism as a Disorder of High Intelligence. Frontiers in Neuroscience, 10, 300.
Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee, S. H., Ripke, S., Neale, B. M., Faraone, S. V., Purcell, S. M., … International Inflammatory Bowel Disease Genetics Consortium (IIBDGC). (2013). Genetic Relationship between Five Psychiatric Disorders Estimated from Genome-Wide SNPs. Nature Genetics, 45(9), 984994.
Culverhouse, R. C., Saccone, N. L., Horton, A. C., Ma, Y., Anstey, K. J., Banaschewski, T., … Bierut, L. J. (2017). Collaborative Meta-Analysis Finds no Evidence of a Strong Interaction between Stress and 5-HTTLPR Genotype Contributing to the Development of Depression. Molecular Psychiatry, 23, 133142.
Demontis, D., Walters, R. K., Martin, J., Mattheisen, M., Als, T. D., Agerbo, E., … Neale, B. M. (2019). Discovery of the First Genome-Wide Significant Risk Loci for Attention Deficit/Hyperactivity Disorder. Nature Genetics, 51(1), 6375.
Dick, D. M., & Kendler, K. S. (2012). The Impact of Gene-Environment Interaction on Alcohol Use Disorders. Alcohol Research: Current Reviews, 34(3), 318324.
Drew, L. J., Crabtree, G. W., Markx, S., Stark, K. L., Chaverneff, F., Xu, B., … Karayiorgou, M. (2011). The 22q11.2 Microdeletion: Fifteen Years of Insights into the Genetic and Neural Complexity of Psychiatric Disorders. International Journal of Developmental Neuroscience, 29(3), 259281.
Duncan, L. E., & Keller, M. C. (2011). A Critical Review of the First 10 Years of Candidate Gene-by-Environment Interaction Research in Psychiatry. American Journal of Psychiatry, 168(10), 10411049.
Eichler, E. E., Flint, J., Gibson, G., Kong, A., Leal, S. M., Moore, J. H., & Nadeau, J. H. (2010). Missing Heritability and Strategies for Finding the Underlying Causes of Complex Disease. Nature Reviews Genetics, 11(6), 446450.
Falconer, D. S. (1965). The Inheritance of Liability to Certain Diseases, Estimated from the Incidence among Relatives. Annals of Human Genetics, 29(1), 5176.
Falconer, D. S., & Mackay, T. F. C. (1996). Introduction to Quantitative Genetics. Harlow: Pearson Education.
Faraone, S. V., Perlis, R. H., Doyle, A. E., Smoller, J. W., Goralnick, J. J., Holmgren, M. A., & Sklar, P. (2005). Molecular Genetics of Attention-Deficit/Hyperactivity Disorder. Biological Psychiatry, 57(11), 13131323.
Felson, J. (2014). What Can We Learn from Twin Studies? A Comprehensive Evaluation of the Equal Environments Assumption. Social Science Research, 43, 184199.
Furberg, H., Kim, YunJung, Dackor, J., Boerwinkle, E., Franceschini, N., Ardissino, D., … Furberg, C. D. (2010). Genome-Wide Meta-Analyses Identify Multiple Loci Associated with Smoking Behavior. Nature Genetics, 42(5), 441447.
Gandal, M. J., Leppa, V., Won, H., Parikshak, N. N., & Geschwind, D. H. (2016). The Road to Precision Psychiatry: Translating Genetics into Disease Mechanisms. Nature Neuroscience, 19(11), 13971407.
Gelernter, J., Kranzler, H. R., Sherva, R., Almasy, L., Koesterer, R., Smith, A. H., … Farrer, L. A. (2014). Genome-Wide Association Study of Alcohol Dependence: Significant Findings in African- and European-Americans Including Novel Risk Loci. Molecular Psychiatry, 19(1), 4149.
Gormley, P., Anttila, V., Winsvold, B. S., Palta, P., Esko, T., Pers, T. H., … Palotie, A. (2016). Meta-Analysis of 375,000 Individuals Identifies 38 Susceptibility Loci for Migraine. Nature Genetics, 48(8), 856866.
Hamburg, M. A., & Collins, F. S. (2010). The Path to Personalized Medicine. New England Journal of Medicine, 363(4), 301304.
Hardy, J., & Singleton, A. (2009). Genomewide Association Studies and Human Disease. New England Journal of Medicine, 360(17), 17591768.
Hettema, J. M., Neale, M. C., & Kendler, K. S. (2001). A Review and Meta-Analysis of the Genetic Epidemiology of Anxiety Disorders. American Journal of Psychiatry, 158(10), 15681578.
Hill, W. G., Goddard, M. E., & Visscher, P. M. (2008). Data and Theory Point to Mainly Additive Genetic Variance for Complex Traits. PLOS Genetics, 4(2), e1000008.
Hirschhorn, J. N., & Daly, M. J. (2005). Genome-Wide Association Studies for Common Diseases and Complex Traits. Nature Reviews Genetics, 6(2), 95108.
Hong, E. P., & Park, J. W. (2012). Sample Size and Statistical Power Calculation in Genetic Association Studies. Genomics & Informatics, 10(2), 117122.
Hur, Y.-M., & Craig, J. M. (2013). Twin Registries Worldwide: An Important Resource for Scientific Research. Twin Research and Human Genetics, 16(1), 112.
Hyde, C. L., Nagle, M. W., Tian, C., Chen, X., Paciga, S. A., Wendland, J. R., … Winslow, A. R. (2016). Identification of 15 Genetic Loci Associated with Risk of Major Depression in Individuals of European Descent. Nature Genetics, 48(9), 10311036.
Jaffee, S. R., & Price, T. S. (2008). Genotype-Environment Correlations: Implications for Determining the Relationship between Environmental Exposures and Psychiatric Illness. Psychiatry, 7(12), 496499.
Johnson, R. C., Nelson, G. W., Troyer, J. L., Lautenberger, J. A., Kessing, B. D., Winkler, C. A., & O’Brien, S. J. (2010). Accounting for Multiple Comparisons in a Genome-Wide Association Study (GWAS). BMC Genomics, 11, 724.
Jorde, L. B. (2000). Linkage Disequilibrium and the Search for Complex Disease Genes. Genome Research, 10(10), 14351444.
Kendler, K. S., & Baker, J. H. (2007). Genetic Influences on Measures of the Environment: A Systematic Review. Psychological Medicine, 37(5), 615626.
Kendler, K. S., Neale, M. C., Kessler, R. C., Heath, A. C., & Eaves, L. J. (1993). A Test of the Equal-Environment Assumption in Twin Studies of Psychiatric Illness. Behavior Genetics, 23(1), 2127.
Kendler, K. S., Gatz, M., Gardner, C. O., & Pedersen, N. L. (2006). A Swedish National Twin Study of Lifetime Major Depression. American Journal of Psychiatry, 163(1), 109114.
Kieseppä, T., Partonen, T., Haukka, J., Kaprio, J., & Lönnqvist, J. (2004). High Concordance of Bipolar I Disorder in a Nationwide Sample of Twins. American Journal of Psychiatry, 161(10), 18141821.
Kirov, G., Pocklington, A. J., Holmans, P., Ivanov, D., Ikeda, M., Ruderfer, D., … Böttcher, Y. (2012). De Novo CNV Analysis Implicates Specific Abnormalities of Postsynaptic Signalling Complexes in the Pathogenesis of Schizophrenia. Molecular Psychiatry, 17(2), 142153.
Kwon, J. M., & Goate, A. M. (2000). The Candidate Gene Approach. Alcohol Research & Health, 24(3), 164168.
Lee, S. H., Ripke, S., Neale, B. M., Faraone, S. V., Purcell, S. M., Perlis, R. H., … Asherson, P. (2013). Genetic Relationship between Five Psychiatric Disorders Estimated from Genome-Wide SNPs. Nature Genetics, 45(9), 984994.
Li, M. D., Cheng, R., Ma, J. Z., & Swan, G. E. (2003). A Meta-Analysis of Estimated Genetic and Environmental Effects on Smoking Behavior in Male and Female Adult Twins. Addiction, 98(1), 2331.
Maes, H. H. M., Neale, M. C., Kendler, K. S., Hewitt, J. K., Silberg, J. L., Foley, D. L., … Eaves, L. J. (1998). Assortative Mating for Major Psychiatric Diagnoses in Two Population-Based Samples. Psychological Medicine, 28(6), 13891401.
Maher, B. (2008). Personal Genomes: The Case of the Missing Heritability. Nature, 456(7218), 1821.
Malhotra, D., & Sebat, J. (2012). CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics. Cell, 148(6), 12231241.
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., … Boehnke, M. (2009). Finding the Missing Heritability of Complex Diseases. Nature, 461(7265), 747753.
Mazzeo, S. E., Mitchell, K. S., Bulik, C. M., Aggen, S. H., Kendler, K. S., & Neale, M. C. (2010). A Twin Study of Specific Bulimia Nervosa Symptoms. Psychological Medicine, 40(7), 12031213.
McClellan, J., & King, M.-C. (2010). Genetic Heterogeneity in Human Disease. Cell, 141(2), 210217.
McGue, M., Keyes, M., Sharma, A., Elkins, I., Legrand, L., Johnson, W., & Iacono, W. (2007). The Environments of Adopted and Non-Adopted Youth: Evidence on Range Restriction from the Sibling Interaction and Behavior Study (SIBS). Behavior Genetics, 37(3), 449462.
McGuffin, P., Rijsdijk, F., Andrew, M., Sham, P., Katz, R., & Cardno, A. (2003). The Heritability of Bipolar Affective Disorder and the Genetic Relationship to Unipolar Depression. Archives of General Psychiatry, 60(5), 497502.
Mühleisen, T. W., Leber, M., Schulze, T. G., Strohmaier, J., Degenhardt, F., Treutlein, J., … Cichon, S. (2014). Genome-Wide Association Study Reveals Two New Risk Loci for Bipolar Disorder. Nature Communications, 5, 3339.
Munafò, M. R. (2006). Candidate Gene Studies in the 21st Century: Meta-Analysis, Mediation, Moderation. Genes, Brain & Behavior, 5, 38.
Neale, M., & Cardon, L. (2013). Methodology for Genetic Studies of Twins and Families. New York: Springer Science & Business Media.
Nikolas, M. A., & Alexandra, S. (2010). Genetic and Environmental Influences on ADHD Symptom Dimensions of Inattention and Hyperactivity: A Meta-Analysis. Journal of Abnormal Psychology, 119(1), 117.
Otowa, T., Hek, K., Lee, M., Byrne, E. M., Mirza, S. S., Nivard, M. G., … Hettema, J. M. (2016). Meta-Analysis of Genome-Wide Association Studies of Anxiety Disorders. Molecular Psychiatry, 21(10), 13911399.
Phillips, P. C. (2008). Epistasis ‒ The Essential Role of Gene Interactions in the Structure and Evolution of Genetic Systems. Nature Reviews Genetics, 9(11), 855867.
Plomin, R., & Bergeman, C. S. (1991). The Nature of Nurture: Genetic Influence on “Environmental” Measures. Behavioral and Brain Sciences, 14(3), 373386.
Plomin, R., DeFries, J. C., & Loehlin, J. C. (1977). Genotype-Environment Interaction and Correlation in the Analysis of human behavior. Psychological Bulletin, 84(2), 309322.
Plomin, R., Owen, M. J., & McGuffin, P. (1994). The Genetic Basis of Complex Human Behaviors. Science, 264(5166), 17331739.
Plomin, R., DeFries, J. C., Knopik, V. S., & Neiderheiser, J. (2013). Behavioral Genetics (6th edn.). New York: Worth Publishers.
Polderman, T. J. C., Benyamin, B., de Leeuw, C. A., Sullivan, P. F., van Bochoven, A., Visscher, P. M., & Posthuma, D. (2015). Meta-Analysis of the Heritability of Human Traits Based on Fifty Years of Twin Studies. Nature Genetics, 47(7), 702709.
Power, R. A., Steinberg, S., Bjornsdottir, G., Rietveld, C. A., Abdellaoui, A., Nivard, M. M., … Stefansson, K. (2015). Polygenic Risk Scores for Schizophrenia and Bipolar Disorder Predict Creativity. Nature Neuroscience, 18(7), 953955.
Purcell, S. M., Wray, N. R., Stone, J. L., Visscher, P. M., O’Donovan, M. C., Sullivan, P. F., … Moran, J. L. (2009). Common Polygenic Variation Contributes to Risk of Schizophrenia and Bipolar Disorder. Nature, 460(7256), 748752.
Reich, D. E., & Lander, E. S. (2001). On the Allelic Spectrum of Human Disease. Trends in Genetics, 17(9), 502510.
Ripke, S., O’Dushlaine, C., Chambert, K., Moran, J. L., Kähler, A. K., Akterin, S., … Sullivan, P. F. (2014). Genome-Wide Association Analysis Identifies 13 New Risk Loci for Schizophrenia. Nature Genetics, 45(10), 11501159.
Robinson, M. R., Wray, N. R., & Visscher, P. M. (2014). Explaining Additional Genetic Variation in Complex Traits. Trends in Genetics, 30(4), 124132.
Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., … State, M. W. (2011). Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron, 70(5), 863885.
Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium. (2011). Genome-Wide Association Study Identifies Five New Schizophrenia Loci. Nature Genetics, 43(10), 969976.
Schizophrenia Working Group of the Psychiatric Genomics Consortium. (2014). Biological Insights from 108 Schizophrenia-Associated Genetic Loci. Nature, 511(7510), 421427.
Schwekendiek, D. (2009). Height and Weight Differences between North and South Korea. Journal of Biosocial Science, 41(1), 5155.
Scriver, C. R. (2007). The PAH Gene, Phenylketonuria, and a Paradigm Shift. Human Mutation, 28(9), 831845.
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., … Wigler, M. (2004). Large-Scale Copy Number Polymorphism in the Human Genome. Science, 305(5683), 525528.
Shao, H., Burrage, L. C., Sinasac, D. S., Hill, A. E., Ernest, S. R., O’Brien, W., … Nadeau, J. H. (2008). Genetic Architecture of Complex Traits: Large Phenotypic Effects and Pervasive Epistasis. Proceedings of the National Academy of Sciences of the United States of America, 105(50), 1991019914.
Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., … Sigurdsson, A. (2008). Large Recurrent Microdeletions Associated with Schizophrenia. Nature, 455(7210), 232236.
Stone, J. L., O’Donovan, M. C., Gurling, H., Kirov, G. K., Blackwood, D. H. R., Corvin, A., … Macgregor, S. (2008). Rare Chromosomal Deletions and Duplications Increase Risk of Schizophrenia. Nature, 455(7210), 237241.
Stoolmiller, M. (1999). Implications of the Restricted Range of Family Environments for Estimates of Heritability and Nonshared Environment in Behavior-Genetic Adoption Studies. Psychological Bulletin, 125(4), 392409.
Stranger, B. E., Stahl, E. A., & Raj, T. (2011). Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics. Genetics, 187(2), 367383.
Stulp, G., & Barrett, L. (2016). Evolutionary Perspectives on Human Height Variation. Biological Reviews, 91(1), 206234.
Sullivan, P. F., Neale, M. C., & Kendler, K. S. (2000). Genetic Epidemiology of Major Depression: Review and Meta-Analysis. American Journal of Psychiatry, 157(10), 15521562.
Sullivan, P. F., Kendler, K. S., & Neale, M. C. (2003). Schizophrenia as a Complex Trait: Evidence from a Meta-Analysis of Twin Studies. Archives of General Psychiatry, 60(12), 11871192.
Taylor, S. (2011). Etiology of Obsessions and Compulsions: A Meta-Analysis and Narrative Review of Twin Studies. Clinical Psychology Review, 31(8), 13611372.
Tenesa, A., & Haley, C. S. (2013). The Heritability of Human Disease: Estimation, Uses and Abuses. Nature Reviews Genetics, 14(2), 139149.
Tick, B., Bolton, P., Happe, F., Rutter, M., & Rijsdijk, F. (2016). Heritability of Autism Spectrum Disorders: A Meta-Analysis of Twin Studies. Journal of Child Psychology and Psychiatry, 57(5), 585595.
Turkheimer, E. (2000). Three Laws of Behavior Genetics and What They Mean. Current Directions in Psychological Science, 9(5), 160164.
Van Winkel, R. (2011). Family-Based Analysis of Genetic Variation Underlying Psychosis-Inducing Effects of Cannabis: Sibling Analysis and Proband Follow-Up. Archives of General Psychiatry, 68(2), 148157.
Verhulst, B., Neale, M. C., & Kendler, K. S. (2015). The Heritability of Alcohol Use Disorders: A Meta-Analysis of Twin and Adoption Studies. Psychological Medicine, 45(5), 10611072.
Verweij, K. J. H., Zietsch, B. P., Lynskey, M. T., Medland, S. E., Neale, M. C., Martin, N. G., … Vink, J. M. (2010). Genetic and Environmental Influences on Cannabis Use Initiation and Problematic Use: A Meta-Analysis of Twin Studies. Addiction, 105(3), 417430.
Weaver, I. C. G., Cervoni, N., Champagne, F. A., D’Alessio, A. C., Sharma, S., Seckl, J. R., … Meaney, M. J. (2004). Epigenetic Programming by Maternal Behavior. Nature Neuroscience, 7(8), 847854.
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., … Daly, M. J. (2008). Association between Microdeletion and Microduplication at 16p11.2 and Autism. New England Journal of Medicine, 358(7), 667675.
Wilson, B. J., & Nicholls, S. G. (2015). The Human Genome Project, and Recent Advances in Personalized Genomics. Risk Management and Healthcare Policy, 8, 920.
Wood, A. R., Esko, T., Yang, J., Vedantam, S., Pers, T. H., Gustafsson, S., … Frayling, T. M. (2014). Defining the Role of Common Variation in the Genomic and Biological Architecture of Adult Human Height. Nature Genetics, 46(11), 11731186.
Yang, J., Lee, S. H., Goddard, M. E., & Visscher, P. M. (2011a). GCTA: A Tool for Genome-Wide Complex Trait Analysis. The American Journal of Human Genetics, 88(1), 7682.
Yang, J., Weedon, M. N., Purcell, S., Lettre, G., Estrada, K., Willer, C. J., … Goddard, M. E. (2011b). Genomic Inflation Factors under Polygenic Inheritance. European Journal of Human Genetics, 19(7), 807812.
Yengo, L., Sidorenko, J., Kemper, K. E., Zheng, Z., Wood, A. R., Weedon, M. N., … Consortium, G. (2018). Meta-Analysis of Genome-Wide Association Studies for Height and Body Mass Index in ~700,000 Individuals of European Ancestry. BioRxiv, 274654.
Zammit, S., Spurlock, G., Williams, H., Norton, N., Williams, N., O’Donovan, M. C., & Owen, M. J. (2007). Genotype Effects of CHRNA7, CNR1 and COMT in Schizophrenia: Interactions with Tobacco and Cannabis Use. The British Journal of Psychiatry, 191(5), 402407.
Zondervan, K. T., & Cardon, L. R. (2004). The Complex Interplay among Factors that Influence Allelic Association. Nature Reviews Genetics, 5(2), 89100.
Zuk, O., Hechter, E., Sunyaev, S. R., & Lander, E. S. (2012). The Mystery of Missing Heritability: Genetic Interactions Create Phantom Heritability. Proceedings of the National Academy of Sciences of the United States of America, 109(4), 11931198.