Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-586b7cd67f-l7hp2 Total loading time: 0 Render date: 2024-11-29T14:18:43.490Z Has data issue: false hasContentIssue false

7 - Genetics

Published online by Cambridge University Press:  08 November 2023

Edited by
Mary-Ellen Lynall ,
Peter B. Jones  and
Stephen M. Stahl
Mary-Ellen Lynall
Affiliation:
University of Cambridge
Peter B. Jones
Affiliation:
University of Cambridge
Stephen M. Stahl
Affiliation:
University of California, San Diego
Get access

Summary

A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Cambridge Textbook of Neuroscience for Psychiatrists , pp. 326 - 341
Publisher: Cambridge University Press
Print publication year: 2023

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

References for Chapter 7

Gratten, J, Wray, NR, Keller, MC, Visscher, PM. Large-scale genomics unveils the genetic architecture of psychiatric disorders. Nat Neurosci 2014; 17(6): 782–790.CrossRefGoogle ScholarPubMed
Sandin, S, Lichtenstein, P, Kuja-Halkola, R et al. The heritability of autism spectrum disorder. JAMA 2017; 318(12): 1182–1184.CrossRefGoogle ScholarPubMed
Gaugler, T, Klei, L, Sanders, SJ et al. Most genetic risk for autism resides with common variation. Nat Genet 2014; 46(8): 881–885.CrossRefGoogle ScholarPubMed
Lee, SH, Ripke, S, Neale, BM et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013; 45(9): 984–994.Google ScholarPubMed
Hilker, R, Helenius, D, Fagerlund, B et al. Heritability of schizophrenia and schizophrenia spectrum based on the nationwide Danish twin register. Biol Psychiatry 2018; 83(6): 492–498.CrossRefGoogle ScholarPubMed
McGuffin, P, Rijsdijk, F, Andrew, M et al. The heritability of bipolar affective disorder and the genetic relationship to unipolar depression. Arch Gen Psychiatry 2003; 60(5): 497–502.CrossRefGoogle ScholarPubMed
Faraone, SV, Perlis, RH, Doyle, AE et al. Molecular genetics of attention-deficit/hyperactivity disorder. Biol Psychiatry 2005; 57(11): 1313–1323.CrossRefGoogle ScholarPubMed
Sullivan, P, Neale, M, Kendler, K. Genetic epidemiology of major depression: review and meta-analysis. Am J Psychiatry 2000; 157(10): 11.CrossRefGoogle ScholarPubMed
Howard, DM, Adams, MJ, Clarke, TK et al. Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. Nat Neurosci 2019; 22(3): 343–352.CrossRefGoogle ScholarPubMed
Wray, NR, Ripke, S, Mattheisen, M et al. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nat Genet 2018; 50(5): 668–681.CrossRefGoogle ScholarPubMed
Mullins, N, Forstner, AJ, O’Connell, KS et al. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nat Genet 2021; 53(6): 817–829.CrossRefGoogle Scholar
Meier, SM, Trontti, K, Purves, KL et al. Genetic variants associated with anxiety and stress-related disorders: a genome-wide association study and mouse-model study. JAMA Psychiatry 2019; 76(9): 924–932.CrossRefGoogle ScholarPubMed
Trubetskoy, V, Pardiñas, AF, Qi, T et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature 2022; 604(7906): 502–508.CrossRefGoogle ScholarPubMed
Common polygenic variation contributes to risk of schizophrenia that overlaps with bipolar disorder. Nature 2009; 460(7256): 748–752.CrossRefGoogle Scholar
Choi, SW, O’Reilly, PF. PRSice-2: polygenic risk score software for biobank-scale data. Gigascience 2019; 8(7): giz082.CrossRefGoogle ScholarPubMed
Chang, CC, Chow, CC, Tellier, LC et al. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience 2015; 4: 7.CrossRefGoogle Scholar
Vilhjálmsson, BJ, Yang, J, Finucane, HK et al. Modeling linkage disequilibrium increases accuracy of polygenic risk scores. Am J Hum Genet 2015; 97(4): 576–592.CrossRefGoogle ScholarPubMed
Lewis, CM, Vassos, E. Polygenic risk scores: from research tools to clinical instruments. Genome Med 2020; 12(1): 44.CrossRefGoogle ScholarPubMed
Ni, G, Moser, G, Consortium SWG of TPG, Wray, NR, Lee, SH. Estimation of genetic correlation via linkage disequilibrium score regression and genomic restricted maximum likelihood. Am J Hum Genet 2018; 102(6): 1185.CrossRefGoogle ScholarPubMed
The Brainstorm Consortium, Anttila, V, Bulik-Sullivan, B et al. Analysis of shared heritability in common disorders of the brain. Science 2018; 360(6395): eaap8757.Google ScholarPubMed
Ruderfer, DM, Ripke, S, McQuillin, A et al. Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes. Cell 2018;173(7): 1705–1715.e16.CrossRefGoogle Scholar
Allardyce, J, Leonenko, G, Hamshere, M et al. Association between schizophrenia-related polygenic liability and the occurrence and level of mood-incongruent psychotic symptoms in bipolar disorder. JAMA Psychiatry 2018; 75(1): 28–35.CrossRefGoogle ScholarPubMed
Lee, C, Scherer, SW. The clinical context of copy number variation in the human genome. Expert Rev Mol Med 2010; 12: e8.CrossRefGoogle ScholarPubMed
Kirov, G, Rees, E, Walters, J. What a psychiatrist needs to know about copy number variants. BJPsych Advances 2015; 21(3): 157–163.CrossRefGoogle Scholar
Girirajan, S, Brkanac, Z, Coe, BP et al. Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 2011; 7(11): e1002334.CrossRefGoogle ScholarPubMed
Williams, NM, Franke, B, Mick, E et al. Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. Am J Psychiatry 2012; 169(2): 195–204.CrossRefGoogle ScholarPubMed
Rees, E, Walters, JT, Georgieva, L et al. Analysis of copy number variations at 15 schizophrenia-associated loci. Br J Psychiatry 2014; 204(2): 108–114.CrossRefGoogle ScholarPubMed
Green, EK, Rees, E, Walters, JT et al. Copy number variation in bipolar disorder. Mol Psychiatry 2016; 21(1): 89–93.CrossRefGoogle ScholarPubMed
Coe, BP, Witherspoon, K, Rosenfeld, JA et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet 2014; 46(10): 1063–1071.CrossRefGoogle ScholarPubMed
Cooper, GM, Coe, BP, Girirajan, S et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011; 43(9): 838–846.CrossRefGoogle ScholarPubMed
Rees, E, Kendall, K, Pardiñas, AFF et al. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry 2016; 73(9): 963–969.CrossRefGoogle ScholarPubMed
Kendall, KM, Rees, E, Bracher-Smith, M et al. Association of rare copy number variants with risk of depression. JAMA Psychiatry 2019; 76(8): 818–825.CrossRefGoogle ScholarPubMed
Kendall, KM, Rees, E, Escott-Price, V et al. Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK Biobank subjects. Biol Psychiatry 2017; 82(2): 103–110.CrossRefGoogle Scholar
Kendall, KM, Bracher-Smith, M, Fitzpatrick, H et al. Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank. Br J Psychiatry 2019; 214(5): 297–304.CrossRefGoogle ScholarPubMed
Stefansson, H, Meyer-Lindenberg, A, Steinberg, S et al. CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature 2014; 505(7483): 361–366.CrossRefGoogle ScholarPubMed
Männik, K, Mägi, R, Macé, A et al. Copy number variations and cognitive phenotypes in unselected populations. JAMA 2015; 313(20): 2044–2054.CrossRefGoogle ScholarPubMed
Crawford, K, Bracher-Smith, M, Kendall, KM et al. Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank. J Med Genet 2019; 56(3): 131–138.CrossRefGoogle ScholarPubMed
Owen, D, Bracher-Smith, M, Kendall, K et al. Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. BMC Genomics 2018; 867.CrossRefGoogle Scholar
Kaplanis, J, Samocha, KE, Wiel, L et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 2020; 586(7831): 757–762.CrossRefGoogle ScholarPubMed
Satterstrom, FK, Kosmicki, JA, Wang, J et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell 2020; 180(3): 568–584.e23.CrossRefGoogle ScholarPubMed
Singh, T, Kurki, MI, Curtis, D et al. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci 2016; 19(4): 571–577.CrossRefGoogle ScholarPubMed
Roth, TL, Lubin, FD, Sodhi, M, Kleinman, JE. Epigenetic mechanisms in schizophrenia. Biochim Biophys Acta 2009; 1790(9): 869–877.CrossRefGoogle ScholarPubMed
Hannon, E, Dempster, EL, Mansell, G et al. DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia. elife 2021; 10: e58430.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×