Copy number variants in schizophrenia: Confirmation of five previous finding sand new evidence for 3q29 microdeletions and VIPR2 duplications

American Journal of Psychiatry

Volumn 168, Issue 3, 2011, Pages 302-316

  Levinson, Douglas F ^a   Duan, Jubao ^a   Oh, Sang ^a   Wang, Kai ^a   Sanders, Alan R ^a   Shi, Jianxin ^a   Zhang, Nancy ^a   Mowry, Bryan J ^a   Olincy, Ann ^a   Amin, Farooq ^a   Cloninger, C Robert ^a   Silverman, Jeremy M ^a   Buccola, Nancy G ^a   Byerley, William F ^a   Black, Donald W ^a   Kendler, Kenneth S ^a   Freedman, Robert ^a   Dudbridge, Frank ^a   Pe'er, Itsik ^a   Hakonarson, Hakon ^a   Bergen, Sarah E ^a   Fanous, Ayman H ^a   Holmans, Peter A ^a   Gejman, Pablo V ^a   more..

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

NEUREXIN; NEUREXIN 1; UNCLASSIFIED DRUG; VASOACTIVE INTESTINAL POLYPEPTIDE RECEPTOR 2;

ARTICLE; CHROMOSOME 3Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; GENETIC TRANSFORMATION; HUMAN; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MOLECULAR GENETICS; PATHOGENESIS; PRIORITY JOURNAL; QUALITY CONTROL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; DNA COPY NUMBER VARIATIONS; ETHNIC GROUPS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; SCHIZOPHRENIA;

EID: 79952710338     PISSN: 0002953X     EISSN: 15357228     Source Type: Journal    
DOI: 10.1176/appi.ajp.2010.10060876     Document Type: Article

References (42)

1. Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Moller HJ, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, Muhleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B, Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, Nothen MM, Peltonen L, Collier DA, St Clair D, Stefansson K: Large recurrent microdeletions associated with schizophrenia. Nature 2008; 455:232-236
2. International Schizophrenia Consortium: Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008; 455:237-241
3. McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimaki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nothen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J: Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009; 41:1223-1227
4. Kirov G, Rujescu D, Ingason A, Collier DA, O'Donovan MC, Owen MJ: Neurexin 1 (NRXN1) deletions in schizophrenia. Schizophr Bull 2009; 35:851-854
5. Rujescu D, Ingason A, Cichon S, Pietilainen OP, Barnes MR, Toulopoulou T, Picchioni M, Vassos E, Ettinger U, Bramon E, Murray R, Ruggeri M, Tosato S, Bonetto C, Steinberg S, Sigurdsson E, Sigmundsson T, Petursson H, Gylfason A, Olason PI, Hardarsson G, Jonsdottir GA, Gustafsson O, Fossdal R, Giegling I, Moller HJ, Hartmann AM, Hoffmann P, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Djurovic S, Melle I, Andreassen OA, Hansen T, Werge T, Kiemeney LA, Franke B, Veltman J, Buizer-Voskamp JE, Sabatti C, Ophoff RA, Rietschel M, Nothen MM, Stefansson K, Peltonen L, St Clair D, Stefansson H, Collier DA: Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 2009; 18:988-996
6. Bassett AS, Scherer SW, Brzustowicz LM: Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry 2010; 167:899-914
7. Kirov G, Grozeva D, Norton N, Ivanov D, Mantripragada KK, Holmans P, Craddock N, Owen MJ, O'Donovan MC: Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 2009; 18:1497-1503
8. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J: Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008; 320:539-543
9. Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, Fitz-Patrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL: 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet 2005; 77:154-160 (Pubitemid 40848047)
10. Hill JM: Vasoactive intestinal peptide in neurodevelopmental disorders: therapeutic potential. Curr Pharm Des 2007; 13:1079-1089
11. Hashimoto R, Hashimoto H, Shintani N, Chiba S, Hattori S, Okada T, Nakajima M, Tanaka K, Kawagishi N, Nemoto K, Mori T, Ohnishi T, Noguchi H, Hori H, Suzuki T, Iwata N, Ozaki N, Nakabayashi T, Saitoh O, Kosuga A, Tatsumi M, Kamijima K, Weinberger DR, Kunugi H, Baba A: Pituitary adenylate cyclase-activating polypeptide is associated with schizophrenia. Mol Psychiatry 2007; 12:1026-1032 (Pubitemid 350006203)
12. Shi J, Levinson DF, Duan J, Sanders AR, Zheng Y, Pe'er I, Dudbridge F, Holmans PA, Whittemore AS, Mowry BJ, Olincy A, Amin F, Cloninger CR, Silverman JM, Buccola NG, Byerley WF, Black DW, Crowe RR, Oksenberg JR, Mirel DB, Kendler KS, Freedman R, Gejman PV: Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 2009; 460:753-757
13. Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H: High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009; 19:1682-1690
14. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M: PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007; 17:1665-1674 (Pubitemid 350074862)
15. Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Cawley S, Hubbell E, Veitch J, Collins PJ, Darvishi K, Lee C, Nizzari MM, Gabriel SB, Purcell S, Daly MJ, Altshuler D: Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008; 40:1253-1260
16. Lai TL, Xing H, Zhang N: Stochastic segmentation models for array-based comparative genomic hybridization data analysis. Biostatistics 2008; 9:290-307 (Pubitemid 351438554)
17. Mulle JG, Dodd AF, McGrath JA, Wolyniec PS, Mitchell AA, Shetty AC, Sobreira NL, Valle D, Rudd MK, Satten G, Cutler DJ, Pulver AE, Warren ST: Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet 2010; 87:229-236
18. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81:559-575 (Pubitemid 47330214)
19. Agresti A: Categorical Data Analysis, 2nd ed. New York, John Wiley & Sons, 2002
20. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MAR, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu B-L, Daly MJ, Autism Consortium: Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358:667-675 (Pubitemid 351240746)
21. Need AC, Ge D, Weale ME, Maia J, Feng S, Heinzen EL, Shianna KV, Yoon W, Kasperaviciute D, Gennarelli M, Strittmatter WJ, Bonvicini C, Rossi G, Jayathilake K, Cola PA, McEvoy JP, Keefe RS, Fisher EM, St Jean PL, Giegling I, Hartmann AM, Moller HJ, Ruppert A, Fraser G, Crombie C, Middleton LT, St Clair D, Roses AD, Muglia P, Francks C, Rujescu D, Meltzer HY, Goldstein DB: A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 2009; 5(2):e1000373
22. Ikeda M, Aleksic B, Kirov G, Kinoshita Y, Yamanouchi Y, Kitajima T, Kawashima K, Okochi T, Kishi T, Zaharieva I, Owen MJ, O'Donovan MC, Ozaki N, Iwata N: Copy number variation in schizophrenia in the Japanese population. Biol Psychiatry 2010; 67:283-286
23. Levinson DF, Mowry BJ, Escamilla MA, Faraone SV: The Lifetime Dimensions of Psychosis Scale (LDPS): description and interrater reliability. Schizophr Bull 2002; 28:683-695 (Pubitemid 36569794)
24. Kirov G, Gumus D, Chen W, Norton N, Georgieva L, Sari M, O'Donovan MC, Erdogan F, Owen MJ, Ropers HH, Ullmann R: Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet 2008; 17:458-465
25. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A: Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008; 40:1466-1471
26. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham B, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez D, Kozel B, Sparagana S, Roeder E, McGrew S, Kurczynski T, Allison L, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet A, Cheung SW, Lupski JR: Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2009; 47:332-341
27. Etherton MR, Blaiss CA, Powell CM, Sudhof TC: Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. Proc Natl Acad Sci USA 2009; 106:17998-18003
28. Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A: CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 2009; 85:655-666
29. Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D, Werge T, Pietilainen OP, Mors O, Mortensen PB, Sigurdsson E, Gustafsson O, Nyegaard M, Tuulio-Henriksson A, Ingason A, Hansen T, Suvisaari J, Lonnqvist J, Paunio T, Borglum AD, Hartmann A, Fink-Jensen A, Nordentoft M, Hougaard D, Norgaard-Pedersen B, Bottcher Y, Olesen J, Breuer R, Moller HJ, Giegling I, Rasmussen HB, Timm S, Mattheisen M, Bitter I, Rethelyi JM, Magnusdottir BB, Sigmundsson T, Olason P, Masson G, Gulcher JR, Haraldsson M, Fossdal R, Thorgeirsson TE, Thorsteinsdottir U, Ruggeri M, Tosato S, Franke B, Strengman E, Kiemeney LA, Genetic Risk and Outcome in Psychosis (GROUP), Melle I, Djurovic S, Abramova L, Kaleda V, Sanjuan J, de Frutos R, Bramon E, Vassos E, Fraser G, Ettinger U, Picchioni M, Walker N, Toulopoulou T, Need AC, Ge D, Lim Yoon J, Shianna KV, Freimer NB, Cantor RM, Murray R, Kong A, Golimbet V, Carracedo A, Arango C, Costas J, Jonsson EG, Terenius L, Agartz I, Petursson H, Nothen MM, Rietschel M, Matthews PM, Muglia P, Peltonen L, St Clair D, Goldstein DB, Stefansson K, Collier DA, Kahn RS, Linszen DH, van Os J, Wiersma D, Bruggeman R, Cahn W, de Haan L, Krabbendam L, Myin-Germeys I: Common variants conferring risk of schizophrenia. Nature 2009; 460:744-747
30. Bassett AS, Chow EW: Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep 2008; 10:148-157
31. Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG: Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 2008; 1:8
32. Toyooka K, Iritani S, Makifuchi T, Shirakawa O, Kitamura N, Maeda K, Nakamura R, Niizato K, Watanabe M, Kakita A, Takahashi H, Someya T, Nawa H: Selective reduction of a PDZ protein, SAP-97, in the prefrontal cortex of patients with chronic schizophrenia. J Neurochem 2002; 83:797-806 (Pubitemid 35316029)
33. Jefferies WA, Food MR, Gabathuler R, Rothenberger S, Yamada T, Yasuhara O, McGeer PL: Reactive microglia specifically associated with amyloid plaques in Alzheimer's disease brain tissue express melanotransferrin. Brain Res 1996; 712:122-126 (Pubitemid 26099932)
34. Schwarz E, Prabakaran S, Whitfield P, Major H, Leweke FM, Koethe D, McKenna P, Bahn S: High throughput lipidomic profiling of schizophrenia and bipolar disorder brain tissue reveals alterations of free fatty acids, phosphatidylcholines, and ceramides. J Proteome Res 2008; 7:4266-4277
35. Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J: A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet 2000; 24:167-170
36. Floris C, Rassu S, Boccone L, Gasperini D, Cao A, Crisponi L: Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. Eur J Hum Genet 2008; 16:696-704 (Pubitemid 351753366)
37. Need AC, Goldstein DB: Whole genome association studies in complex diseases: where do we stand? Dialogues Clin Neurosci 2010; 12:37-46
38. Sanders AR, Levinson DF, Duan J, Dennis JM, Li R, Kendler KS, Rice JP, Shi J, Mowry BJ, Amin F, Silverman JM, Buccola NG, Byerley WF, Black DW, Freedman R, Cloninger CR, Gejman PV: The Internet-based MGS2 control sample: self report of mental illness. Am J Psychiatry 2010; 167:854-865
39. Bassett AS, Chow EW, Husted J, Hodgkinson KA, Oechslin E, Harris L, Silversides C: Premature death in adults with 22q11.2 deletion syndrome. J Med Genet 2009; 46:324-330
40. van Engelen K, Topf A, Keavney BD, Goodship JA, van der Velde ET, Baars MJ, Snijder S, Moorman AF, Postma AV, Mulder BJ: 22q11.2 deletion syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia. Heart 2010; 96:621-624
41. John AS, McDonald-McGinn DM, Zackai EH, Goldmuntz E: Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet A 2009; 149A:939-942
42. De Smedt B, Swillen A, Verschaffel L, Ghesquiere P: Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review. Dev Disabil Res Rev 2009; 15:4-10