Gender differences in CNV burden do not confound schizophrenia CNV associations

Scientific Reports

Volumn 6, Issue , 2016, Pages

  Han, Jun ^a   Walters, James T R ^a   Kirov, George ^a   Pocklington, Andrew ^a   Escott Price, Valentina ^a   Owen, Michael J ^a   Holmans, Peter ^a   O'Donovan, Michael C ^a   Rees, Elliott ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CASE CONTROL STUDY; COPY NUMBER VARIATION; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HUMAN; MALE; SCHIZOPHRENIA; SEXUAL CHARACTERISTICS;

CASE-CONTROL STUDIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; SCHIZOPHRENIA; SEX CHARACTERISTICS;

EID: 84969164691     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep25986     Document Type: Article

References (27)

1. Sullivan P. F., Daly M. J., & O?Donovan M. Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat Rev Genet 13, 537-551 (2012
2. Purcell S. M., et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature 506, 185-190 (2014
3. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511, 421-427 (2014
4. International Schizophrenia Consortium (ISC). Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455, 237-241 (2008
5. Stefansson H., et al. Large recurrent microdeletions associated with schizophrenia. Nature 455, 232-236 (2008
6. Rees E., et al. Analysis of copy number variations at 15 schizophrenia-associated loci. Br J Psychiatry 204, 108-114 (2014
7. Rees E., et al. Evidence that duplications of 22q11. 2 protect against schizophrenia. Mol Psychiatry 19, 37-40 (2014
8. Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res 65, 591-598 (2009
9. McGrath J., Saha S., Chant D., & Welham J. Schizophrenia: a concise overview of incidence, prevalence, and mortality. Epidemiol Rev 30, 67-76 (2008
10. Elsabagh S., Premkumar P., Anilkumar A. P., & Kumari V. A longer duration of schizophrenic illness has sex-specific associations within the working memory neural network in schizophrenia. Behav Brain Res 201, 41-47 (2009
11. Abbs B., et al. Covariance modeling of MRI brain volumes in memory circuitry in schizophrenia: sex differences are critical. Neuroimage 56, 1865-1874 (2011
12. Goldstein J. M., et al. Hypothalamic abnormalities in schizophrenia: sex effects and genetic vulnerability. Biol Psychiatry 61, 935-945 (2007
13. Goldstein J. M., et al. Impact of normal sexual dimorphisms on sex differences in structural brain abnormalities in schizophrenia assessed by magnetic resonance imaging. Arch Gen Psychiatry 59, 154-164 (2002
14. Gur R. E., et al. A sexually dimorphic ratio of orbitofrontal to amygdala volume is altered in schizophrenia. Biol Psychiatry 55, 512-517 (2004
15. Jacquemont S., et al. A higher mutational burden in females supports a female protective model in neurodevelopmental disorders. Am J Hum Genet 94, 415-425 (2014
16. Gilman S. R., et al. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 70, 898-907 (2011
17. Levy D., et al. Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70, 886-897 (2011
18. Sanders S. J., et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron 87, 1215-1233 (2015
19. Robinson E. B., Lichtenstein P., Anckarsäter H., Happé F., & Ronald A. Examining and interpreting the female protective effect against autistic behavior. Proc Natl Acad Sci USA 110, 5258-5262 (2013
20. Martin J., Hamshere M. L., Stergiakouli E., O?Donovan M. C., & Thapar A. Genetic risk for attention-deficit/hyperactivity disorder contributes to neurodevelopmental traits in the general population. Biol Psychiatry 76, 664-671 (2014
21. Desachy G., et al. Increased female autosomal burden of rare copy number variants in human populations and in autism families. Mol Psychiatry 20, 170-175 (2015
22. Sanders S. J., et al. Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863-885 (2011
23. Zhao X., et al. A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci USA 104, 12831-12836 (2007
24. Fromer M., et al. De novo mutations in schizophrenia implicate synaptic networks. Nature 506, 179-184 (2014
25. Malhotra D., & Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 148, 1223-1241 (2012
26. Levinson D. F., et al. Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry, 168, 302-316 (2011
27. Firth D. Bias reduction of maximum likelihood estimates. Biometrika, 80, 27-38 (1993