Genome-wide investigation of rare structural variants identifies VIPR2 as a new candidate gene for schizophrenia

References

• Cardno AG, Gottesman II. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics. Am. J. Med. Genet.97(1), 12–17 (2000).
   PubMed Web of Science ®Google Scholar
• Sullivan PF, Kendler KS, Neale MC. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch. Gen. Psychiatry60(12), 1187–1192 (2003).
   PubMed Web of Science ®Google Scholar
• Craddock N, O’Donovan MC, Owen MJ. Genes for schizophrenia and bipolar disorder?. Implications for psychiatric nosology. Schizophr. Bull.32(1), 9–16 (2006).
   PubMed Web of Science ®Google Scholar
• Ng MY, Levinson DF, Faraone SV et al. Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol. Psychiatry14(8), 774–785 (2009).
   PubMed Web of Science ®Google Scholar
• Craddock N, O’Donovan MC, Owen MJ. The genetics of schizophrenia and bipolar disorder: dissecting psychosis. J. Med. Genet.42(3), 193–204 (2005).
   PubMed Web of Science ®Google Scholar
• O’Donovan MC, Craddock N, Norton N et al. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat. Genet.40(9), 1053–1055 (2008).
   PubMed Web of Science ®Google Scholar
• Stefansson H, Ophoff RA, Steinberg S et al. Common variants conferring risk of schizophrenia. Nature460(7256), 744–747 (2009).
   PubMed Web of Science ®Google Scholar
• Purcell SM, Wray NR, Stone JL et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature460(7256), 748–752 (2009).
   PubMed Web of Science ®Google Scholar
• McClellan JM, Susser E, King MC. Schizophrenia: a common disease caused by multiple rare alleles. Br. J. Psychiatry190, 194–199 (2007).
   PubMedGoogle Scholar
• Carter NP. Methods and strategies for analyzing copy number variation using DNA microarrays. Nat. Genet.39(7 Suppl.), S16–S21 (2007).
   PubMed Web of Science ®Google Scholar
• Pinto D, Marshall C, Feuk L, Scherer SW. Copy-number variation in control population cohorts. Hum. Mol. Genet.16(Spec. No. 2), R168–R173 (2007).
   Google Scholar
• Bassett AS, Scherer SW, Brzustowicz LM. Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am. J. Psychiatry167(8), 899–914 (2010).
   PubMed Web of Science ®Google Scholar
• Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat. Genet.40(7), 880–885 (2008).
   PubMed Web of Science ®Google Scholar
• Walsh T, McClellan JM, McCarthy SE et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science320(5875), 539–543 (2008).
   PubMed Web of Science ®Google Scholar
• Buizer-Voskamp JE, Muntjewerff JW, Strengman E et al. Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients. Biol. Psychiatry DOI: 10.1016/j.biopsych.2011.02.015 (2011) (Epub ahead of print).
   PubMedGoogle Scholar
• International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature455, 237–241 (2008).
   PubMed Web of Science ®Google Scholar
• Stefansson H, Rujescu D, Cichon S et al. Large recurrent microdeletions associated with schizophrenia. Nature455(7210), 232–236 (2008).
   PubMed Web of Science ®Google Scholar
• Kirov G, Grozeva D, Norton N et al. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum. Mol. Genet.18(8), 1497–1503 (2009).
   PubMed Web of Science ®Google Scholar
• Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum. Mol. Genet.17(24), 4045–4053 (2008).
   PubMed Web of Science ®Google Scholar
• Magri C, Sacchetti E, Traversa M et al. New copy number variations in schizophrenia. PLoS One5(10), e13422 (2010).
   Google Scholar
• McCarthy SE, Makarov V, Kirov G et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat. Genet.41(11), 1223–1227 (2009).
   PubMed Web of Science ®Google Scholar
• Need AC, Ge D, Weale ME et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet.5(2), e1000373 (2009).
   PubMed Web of Science ®Google Scholar
• 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. Psychiatry168(3), 302–316 (2011).
   PubMed Web of Science ®Google Scholar
• Rujescu D, Ingason A, Cichon S et al. Disruption of the neurexin 1 gene is associated with schizophrenia. Hum. Mol. Genet.18(5), 988–996 (2009).
   PubMed Web of Science ®Google Scholar
• Kirov G, Gumus D, Chen W et al. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum. Mol. Genet.17(3), 458–465 (2008).
   PubMed Web of Science ®Google Scholar
• Friedman JI, Vrijenhoek T, Markx S et al. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol. Psychiatry13(3), 261–266 (2008).
   PubMed Web of Science ®Google Scholar
• Vacic V, McCarthy S, Malhotra D et al. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature DOI: 10.1038/nature09884 (2011) (Epub ahead of print).
   PubMedGoogle Scholar
• Chaudhury D, Loh DH, Dragich JM, Hagopian A, Colwell CS. Select cognitive deficits in vasoactive intestinal peptide deficient mice. BMC Neurosci.9, 63 (2008).
   PubMedGoogle Scholar
• Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu. Rev. Genomics Hum. Genet.10, 451–481 (2009).
   PubMed Web of Science ®Google Scholar
• Kleinjan DA, van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am. J. Hum. Genet.76(1), 8–32 (2005).
   PubMed Web of Science ®Google Scholar
• Duncan IW. Transvection effects in Drosophila. Annu. Rev. Genet.36, 521–556 (2002).
   PubMedGoogle Scholar
• Sebat J, Levy DL, McCarthy SE. Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet.25(12), 528–535 (2009).
   PubMed Web of Science ®Google Scholar
• Ousley O, Rockers K, Dell ML, Coleman K, Cubells JF. A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment. Curr. Psychiatry Rep.9(2), 148–158 (2007).
   PubMedGoogle Scholar
• Helbig I, Mefford HC, Sharp AJ et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat. Genet.41(2), 160–162 (2009).
   PubMed Web of Science ®Google Scholar
• Dibbens LM, Mullen S, Helbig I et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum. Mol. Genet.18(19), 3626–3631 (2009).
   PubMedGoogle Scholar
• Sharp AJ, Hansen S, Selzer RR et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet.38(9), 1038–1042 (2006).
   PubMed Web of Science ®Google Scholar
• Ingason A, Rujescu D, Cichon S et al. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol. Psychiatry16(1), 17–25 (2010).
   Google Scholar
• McCarroll SA, Kuruvilla FG, Korn JM et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat. Genet.40(10), 1166–1174 (2008).
   PubMed Web of Science ®Google Scholar
• Maher B. Personal genomes: the case of the missing heritability. Nature456(7218), 18–21 (2008).
   PubMed Web of Science ®Google Scholar
• Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature461(7265), 747–753 (2009).
   PubMed Web of Science ®Google Scholar
• Slatkin M. Epigenetic inheritance and the missing heritability problem. Genetics182(3), 845–850 (2009).
   PubMed Web of Science ®Google Scholar