Mosaic copy number variation in schizophrenia

European Journal of Human Genetics

Volumn 21, Issue 9, 2013, Pages 1007-1011

  Ruderfer, Douglas M ^a,b,c   Chambert, Kim ^a   Moran, Jennifer ^a   Talkowski, Michael ^c,d   Chen, Elizabeth S ^e   Gigek, Carolina ^e   Gusella, James F ^c,d   Blackwood, Douglas H ^f   Corvin, Aiden ^g   Gurling, Hugh M ^h   Hultman, Christina M ^i,j   Kirov, George ^k   Magnusson, Patrick ⁱ   O'Donovan, Michael C ^k   Owen, Michael J ^k   Pato, Carlos ^l   St Clair, David ^m   Sullivan, Patrick F ⁿ   Purcell, Shaun M ^a,b,c   Sklar, Pamela ^b   Ernst, Carl ^e   more..

^a BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e MCGILL UNIVERSITY   (Canada)

^f UNIVERSITY OF EDINBURGH   (United Kingdom)

^g TRINITY COLLEGE DUBLIN   (Ireland)

^h ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

ⁱ KAROLINSKA INSTITUTE   (Sweden)

^j UPPSALA UNIVERSITY   (Sweden)

^k CARDIFF UNIVERSITY   (United Kingdom)

^l UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^m UNIVERSITY OF ABERDEEN   (United Kingdom)

ⁿ UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

more..

Author keywords

copy number variation; mosaic; schizophrenia; SNP microarrays

Indexed keywords

ARTICLE; CHROMOSOME 7; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CONTROLLED STUDY; COPY NUMBER VARIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY 8;

CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 7; CHROMOSOMES, HUMAN, PAIR 8; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOD SCORE; MOSAICISM; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA; SEQUENCE DELETION; TRISOMY;

EID: 84882448581     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.287     Document Type: Article

References (17)

1. Kendler KS, Gallagher TJ, Abelson JM, Kessler RC: Lifetime prevalence, demographic risk factors, and diagnostic validity of nonaffective psychosis as assessed in a US community sample. The National Comorbidity Survey. Arch Gen Psychiatry 1996; 53: 1022-1031.
2. Cannon TD, Kaprio J, Lonnqvist J, Huttunen M, Koskenvuo M: The genetic epidemiology of schizophrenia in a Finnish twin cohort. A population-based modeling study. Arch Gen Psychiatry 1998; 55: 67-74.
3. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008; 455: 237-241.
4. Purcell SM, Wray NR, Stone JL et al: Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009; 460: 748-752.
5. Shi J, Levinson DF, Duan J et al: Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 2009; 460: 753-757.
6. Mulle JG, Dodd AF, McGrath JA et al: Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet 2010; 87: 229-236.
7. Vacic V, McCarthy S, Malhotra D et al: Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature 2011; 471: 499-503.
8. Brunet A, Armengol L,Heine D et al: BAC array CGH in patients with velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Med Genet 2009; 10: 144.
9. 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.
10. Forsberg LA, Rasi C, Razzaghian HR et al: Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet 2012; 90: 217-228.
11. Rodriguez-Santiago B, Malats N, Rothman N et al: Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. Am J Hum Genet 2010; 87: 129-138.
12. Jacobs KB, Yeager M, Zhou W et al: Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet 2012; 44: 651-658.
13. Bergen SE, O'Dushlaine CT, Ripke S et al: Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. Mol Psychiatry 2012; 17: 880-886.
14. Korn JM, Kuruvilla FG, McCarroll SA et al: Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008; 40: 1253-1260.
15. 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: 559-575.
16. Ye T, Lipska BK, Tao R et al: Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders. Biol Psychiatry 2012; 72: 651-654.
17. Wilson GM, Flibotte S, Chopra V, Melnyk BL, Honer WG, Holt RA: DNA copy-number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signaling. Hum Mol Genet 2006; 15: 743-749.