Book contents
- Cambridge Textbook Of Neuroscience for Psychiatrists
- Reviews
- Cambridge Textbook of Neuroscience for Psychiatrists
- Copyright page
- Contents
- Contributors
- Introduction
- 1 Cells
- 2 Neurotransmitters and Receptors
- 3 Basic Techniques in Neuroscience
- 4 Neuroanatomy
- 5 Neural Circuits
- 6 Modulators
- 7 Genetics
- 7.1 Basic Genetic Principles and the History of Gene Identification
- 7.2 Common Variation
- 7.3 Rare Variation
- 7.4 Epigenetics
- 7.5 The Clinical Application of Genetics in Psychiatry
- 8 Neurodevelopment and Neuroplasticity
- 9 Integrated Neurobiology of Specific Syndromes and Treatments
- 10 Neurodegeneration
- Index
- References
7.5 - The Clinical Application of Genetics in Psychiatry
from 7 - Genetics
Published online by Cambridge University Press: 08 November 2023
Book contents
- Cambridge Textbook Of Neuroscience for Psychiatrists
- Reviews
- Cambridge Textbook of Neuroscience for Psychiatrists
- Copyright page
- Contents
- Contributors
- Introduction
- 1 Cells
- 2 Neurotransmitters and Receptors
- 3 Basic Techniques in Neuroscience
- 4 Neuroanatomy
- 5 Neural Circuits
- 6 Modulators
- 7 Genetics
- 7.1 Basic Genetic Principles and the History of Gene Identification
- 7.2 Common Variation
- 7.3 Rare Variation
- 7.4 Epigenetics
- 7.5 The Clinical Application of Genetics in Psychiatry
- 8 Neurodevelopment and Neuroplasticity
- 9 Integrated Neurobiology of Specific Syndromes and Treatments
- 10 Neurodegeneration
- Index
- References
Summary
UK, NHS medical genetics services are specialist tertiary services located in regional centres with clinical genetics and laboratory genetics services.
- Type
- Chapter
- Information
- Cambridge Textbook of Neuroscience for Psychiatrists , pp. 337 - 341Publisher: Cambridge University PressPrint publication year: 2023
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