A new wave in the genetics of psychiatric disorders: The copy number variant tsunami

Journal of Psychiatry and Neuroscience

Volumn 34, Issue 1, 2009, Pages 55-59

  Joober, Ridha ^a,b   Boksa, Patricia ^a  

^a MCGILL UNIVERSITY   (Canada)

^b NONE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AUTISM; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIABLE; DISEASE PREDISPOSITION; GENE DELETION; GENE MUTATION; GENE NUMBER; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC RISK; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; INTELLIGENCE QUOTIENT; MENTAL DISEASE; NOTE; PENETRANCE; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; CHILD; GENE DOSAGE; GENETIC ASSOCIATION; GENETICS; PSYCHOLOGICAL ASPECT; REVIEW;

ADULT; CHILD; GENE DOSAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MENTAL DISORDERS;

EID: 61949330756     PISSN: 11804882     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Note

References (37)

1. McCarthy MI, Abecasis GR, Cardon LR, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008;9:356-69.
2. Fieve RR, Mendlewicz J, Rainer JD, et al. A dominant X-linked factor in manic-depressive illness: studies with color blindness. Proc Annu Meet Am Psychopathol Assoc 1975;(63):241-55.
3. Saha N, Tsoi WF, Kua EH. Genetic marker association in schizophrenia: ABO, MN, Rhesus and Lewis blood groups. Ann Acad Med Singapore 1985;14:110-2.
4. Moonesinghe R, Khoury MJ, Liu T, et al. Required sample size and nonreplicability thresholds for heterogeneous genetic associations. Proc Natl Acad Sci U S A 2008;105:617-22.
5. Bassett AS, Chow EW. Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep 2008;10:148-57.
6. Gothelf D, Presburger G, Levy D, et al. Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome. Am J Med Genet B Neuropsychiatr Genet 2004;126B:116-21.
7. Aneja A, Fremont WP, Antshel KM, et al. Manic symptoms and behavioral dysregulation in youth with velocardiofacial syndrome (22q11.2 deletion syndrome). J Child Adolesc Psychopharmacol 2007;17:105-14.
8. Martin CL, Ledbetter DH. Autism and cytogenetic abnormalities: solving autism one chromosome at a time. Curr Psychiatry Rep 2007;9:141-7.
9. Lupski JR. Genomic rearrangements and sporadic disease. Nat Genet 2007;39(Suppl):S43-7.
10. Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006;444:444-54.
11. Lupski JR. Structural variation in the human genome. N Engl J Med 2007;356:1169-71.
12. Bruder CE, Piotrowski A, Gijsbers AA, et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008;82:763-71.
13. Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006;52:103-21.
14. Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007;316:445-9.
15. Moessner R, Marshall CR, Sutcliffe JS, et al. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 2007;81:1289-97.
16. Durand CM, Betancur C, Boeckers TM, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007;39:25-7.
17. Szatmari P, Paterson AD, Zwaigenbaum L, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007;39:319-28.
18. Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008;358:667-75.
19. Walsh T, McClellan JM, McCarthy SE, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008;320:539-43.
20. Xu B, Roos JL, Levy S, et al. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 2008; 40:880-5.
21. Stone JL, O'Donovan MC, Gurling H, et al. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008;455:237-41.
22. Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008;455:232-6.
23. Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21. Comparative genome hybridization suggests a role for NRXN1 and variable pediatric phenotypes APBA2 in schizophrenia. N Engl J Med 2008;359:1685-99.
24. Miller DT, Shen Y, Weiss LA, et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatirc disorders. J Med Genet 2008 Sep 19 [Epub ahead of print].
25. Kirov G, Gumus D, Chen W, et al. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet 2008;17:458-65.
26. Sutrala SR, Goossens D, Williams NM, et al. Gene copy number variation in schizophrenia. Schizophr Res 2007;96:93-9.
27. Sutrala SR, Norton N, Williams NM, et al. Gene copy number variation in schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2008;147B:606-11.
28. Rujescu D, Ingason A, Cichon S, et al. Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 2008 Oct 22 [Epub ahead of print].
29. Wheeler DA, Srinivasan M, Egholm M, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008;452:872-6.
30. Levy S, Sutton G, Ng PC, et al. The diploid genome sequence of an individual human. PLoS Biol 2007;5:e254.
31. Piton A, Michaud JL, Peng H, et al. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Hum Mol Genet 2008 Sep 18 [Epub ahead of print].
32. Hill AB. The environment and disease: Association or causation? Proc R Soc Med 1965;58:295-300.
33. Swaen G, van AL. A weight of evidence approach to causal inference. J Clin Epidemiol 2008 Sep 30 [Epub ahead of print].
34. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007;17:182-92.
35. Walsh T, McClellan JM, McCarthy SE, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in large recurrent microdeletions associated with schizophrenia. Science 2008;320:539-43.
36. Ioannidis JP. Why most discovered true associations are inflated. Epidemiology 2008;19:640-8.
37. Buchanan AV, Weiss KM, Fullerton SM. Dissecting complex disease: The quest for the Philosopher's Stone? Int J Epidemiol 2006;35:562-71.