Analysis of intellectual disability copy number variants for association with schizophrenia

JAMA Psychiatry

Volumn 73, Issue 9, 2016, Pages 963-969

  Rees, Elliott ^a   Kendall, Kimberley ^a   Pardiñas, Antonio F ^a   Legge, Sophie E ^a   Pocklington, Andrew ^a   Escott Price, Valentina ^a   MacCabe, James H ^b   Collier, David A ^b,c   Holmans, Peter ^a   O'Donovan, Michael C ^a   Owen, Michael J ^a   Walters, James T R ^a   Kirov, George ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c ELI LILLY AND COMPANY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; HOMOLOGOUS RECOMBINATION; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; POPULATION; RISK ASSESSMENT; RISK FACTOR; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; CASE CONTROL STUDY; COHORT ANALYSIS; COMORBIDITY; DRUG RESISTANCE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; REFERENCE VALUE; RISK; UNITED KINGDOM;

CLOZAPINE;

ADULT; CASE-CONTROL STUDIES; CLOZAPINE; COHORT STUDIES; COMORBIDITY; DNA COPY NUMBER VARIATIONS; DRUG RESISTANCE; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; REFERENCE VALUES; RISK; SCHIZOPHRENIA; UNITED KINGDOM;

EID: 84996720381     PISSN: 2168622X     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamapsychiatry.2016.1831     Document Type: Article

References (22)

1. Sullivan PF, Daly MJ, O'DonovanM. Genetic architectures of psychiatric disorders: The emerging picture and its implications. Nat Rev Genet. 2012;13 (8):537-551.
2. SchizophreniaWorking Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014;511(7510):421-427.
3. Malhotra D, Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell. 2012; 148(6):1223-1241.
4. Rees E,Walters JTR, Georgieva L, et al. Analysis of copy number variations at 15 schizophreniaassociated loci. Br J Psychiatry. 2014;204(2):108-114.
5. Rees E,Walters JTR, Chambert KD, et al; Wellcome Trust Case Control Consortium. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Hum Mol Genet. 2014;23(6): 1669-1676.
6. 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.
7. Dittwald P, Gambin T, Szafranski P, et al. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013;23(9):1395-1409.
8. Girirajan S, Rosenfeld JA, Coe BP, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med. 2012; 367(14):1321-1331.
9. Kaminsky EB, Kaul V, Paschall J, et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med. 2011;13(9):777-784.
10. Kirov G, Rees E,Walters JT, et al. The penetrance of copy number variations for schizophrenia and developmental delay. Biol Psychiatry. 2014;75(5):378-385.
11. Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838-846.
12. Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998;14(10):417-422.
13. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008;455(7210):237-241.
14. Levinson DF, Duan J, Oh S, et al. Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry. 2011;168(3):302-316.
15. Desachy G, Croen LA, Torres AR, et al. Increased female autosomal burden of rare copy number variants in human populations and in autism families. Mol Psychiatry. 2015;20(2):170-175.
16. Jacquemont S, Coe BP, Hersch M, et al. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet. 2014;94(3):415-425.
17. Han J,Walters JTR, Kirov G, et al. Gender differences in CNV burden do not confound schizophrenia CNV associations. Sci Rep. 2016;6: 25986.
18. Wang K, LiM, Hadley D, et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 2007;17(11):1665-1674.
19. Purcell S, Neale B, Todd-Brown K, et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559-575.
20. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics. 2003;19(1):149-150.
21. Rees E, Kirov G, Sanders A, et al;Wellcome Trust Case Control Consortium. Evidence that duplications of 22q11.2 protect against schizophrenia. Mol Psychiatry. 2014;19(1):37-40.
22. Li Z, Chen J, Xu Y, et al. Genome-wide analysis of the role of copy number variation in schizophrenia risk in Chinese. Biol Psychiatry. 2015; S0006-3223(15)00988-9.