Copy number variation in schizophrenia in the Japanese population.
BACKGROUND
Copy number variants (CNVs) have been shown to increase the risk to develop schizophrenia. The best supported findings are at 1q21.1, 15q11.2, 15q13.3, and 22q11.2 and deletions at the gene neurexin 1 (NRXN1).


METHODS
In this study, we used Affymetrix 5.0 arrays to investigate the role of rare CNVs in 575 patients with schizophrenia and 564 control subjects from Japan.


RESULTS
There was a nonsignificant trend for excess of rare CNVs in schizophrenia (p = .087); however, we did not confirm the previously implicated association for very large CNVs (>500 kilobase [kb]) in this population. We provide support for three previous findings in schizophrenia, as we identified one deletion in a case at 1q21.1, one deletion within NRXN1, and four duplications in cases and one in a control subject at 16p13.1, a locus first implicated in autism and later in schizophrenia.


CONCLUSIONS
In this population, we support some of the previous findings in schizophrenia but could not find an increased burden of very large (>500 kb) CNVs, which was proposed recently. However, we provide support for the role of CNVs at 16p13.1, 1q21.1, and NRXN1.
Ikeda
Masashi
M
Medical Research Council (MRC) Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom.
Aleksic
Branko
B
Kirov
George
G
Kinoshita
Yoko
Y
Yamanouchi
Yoshio
Y
Kitajima
Tsuyoshi
T
Kawashima
Kunihiro
K
Okochi
Tomo
T
Kishi
Taro
T
Zaharieva
Irina
I
Owen
Michael J
MJ
O'Donovan
Michael C
MC
Ozaki
Norio
N
Iwata
Nakao
N
D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D020869:Gene Expression Profiling; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D012559:Schizophrenia / Q000235:genetics*