Common variants in BCL9 gene and schizophrenia in a Japanese population: Association study, meta-analysis and cognitive function analysis

Tomoko Shiino, Takayoshi Koide, Itaru Kushima, Masashi Ikeda, Shohko Kunimoto, Yukako Nakamura, Akira Yoshimi, Branko Aleksic, Masahiro Banno, Tsutomu Kikuchi, Kunihiro Kohmura, Yasunori Adachi, Naoko Kawano, Takashi Okada, Toshiya Inada, Hiroshi Ujike, Tetsuya Iidaka, Michio Suzuki, Nakao Iwata, Norio Ozaki

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Abstract

Background:Schizophrenia is a relatively common disorder, with a lifetime prevalence of about 1%. Family history is the most important risk factor for schizophrenia, consistent with a genetic contribution to its etiology. Recent human genetic studies reported that some common variants located within BCL9 are associated with schizophrenia in the Chinese population, but not associated with bipolar disorder in the Caucasian population. Methods: Single nucleotide variant (SNP) prioritization sample was comprised of 575 patients with schizophrenia and 564 healthy controls with no personal or family history of psychiatric illness. For SNP association analysis, we used an independent Japanese sample set (replication sample) comprising 1464 cases and 1171 controls. For the analysis of cognitive performance, we investigated 115 cases and 87 controls using Continuous Performance Test (CPT-IP) and the Wisconsin Card Sorting Test Keio version (WCST). Meta-selectanalysis was performed using a combined Japanese total sample (N=3735) and a Chinese sample from a previous study. Results: In the replication sample set, we did not detect any association in 2 SNPs (rs672607 and rs10494252) and schizophrenia. Meta-analysis of rs672607 showed significant association (p-value 0.012, odds ratio 0.855). There was a significant (p<0.01) difference between the A/A and G carrier group of rs672607 in CPT mean d' (p=0.0092). Conclusions: We were able to detect evidence for an association between rs672607 in BCL9 and schizophrenia in the meta-analysis of Japanese and Chinese populations. Additionally, this common variant may affect cognitive performance, as measured by the CPT-IP in schizophrenia patients.

Original languageEnglish
Pages (from-to)361-367
Number of pages7
JournalJournal of Medical Biochemistry
Volume32
Issue number4
DOIs
Publication statusPublished - 01-10-2013

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Cognition
Meta-Analysis
Schizophrenia
Genes
Population
Single Nucleotide Polymorphism
Sorting
Nucleotides
Medical Genetics
Bipolar Disorder
Psychiatry
Odds Ratio

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Shiino, Tomoko ; Koide, Takayoshi ; Kushima, Itaru ; Ikeda, Masashi ; Kunimoto, Shohko ; Nakamura, Yukako ; Yoshimi, Akira ; Aleksic, Branko ; Banno, Masahiro ; Kikuchi, Tsutomu ; Kohmura, Kunihiro ; Adachi, Yasunori ; Kawano, Naoko ; Okada, Takashi ; Inada, Toshiya ; Ujike, Hiroshi ; Iidaka, Tetsuya ; Suzuki, Michio ; Iwata, Nakao ; Ozaki, Norio. / Common variants in BCL9 gene and schizophrenia in a Japanese population : Association study, meta-analysis and cognitive function analysis. In: Journal of Medical Biochemistry. 2013 ; Vol. 32, No. 4. pp. 361-367.
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abstract = "Background:Schizophrenia is a relatively common disorder, with a lifetime prevalence of about 1{\%}. Family history is the most important risk factor for schizophrenia, consistent with a genetic contribution to its etiology. Recent human genetic studies reported that some common variants located within BCL9 are associated with schizophrenia in the Chinese population, but not associated with bipolar disorder in the Caucasian population. Methods: Single nucleotide variant (SNP) prioritization sample was comprised of 575 patients with schizophrenia and 564 healthy controls with no personal or family history of psychiatric illness. For SNP association analysis, we used an independent Japanese sample set (replication sample) comprising 1464 cases and 1171 controls. For the analysis of cognitive performance, we investigated 115 cases and 87 controls using Continuous Performance Test (CPT-IP) and the Wisconsin Card Sorting Test Keio version (WCST). Meta-selectanalysis was performed using a combined Japanese total sample (N=3735) and a Chinese sample from a previous study. Results: In the replication sample set, we did not detect any association in 2 SNPs (rs672607 and rs10494252) and schizophrenia. Meta-analysis of rs672607 showed significant association (p-value 0.012, odds ratio 0.855). There was a significant (p<0.01) difference between the A/A and G carrier group of rs672607 in CPT mean d' (p=0.0092). Conclusions: We were able to detect evidence for an association between rs672607 in BCL9 and schizophrenia in the meta-analysis of Japanese and Chinese populations. Additionally, this common variant may affect cognitive performance, as measured by the CPT-IP in schizophrenia patients.",
author = "Tomoko Shiino and Takayoshi Koide and Itaru Kushima and Masashi Ikeda and Shohko Kunimoto and Yukako Nakamura and Akira Yoshimi and Branko Aleksic and Masahiro Banno and Tsutomu Kikuchi and Kunihiro Kohmura and Yasunori Adachi and Naoko Kawano and Takashi Okada and Toshiya Inada and Hiroshi Ujike and Tetsuya Iidaka and Michio Suzuki and Nakao Iwata and Norio Ozaki",
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Shiino, T, Koide, T, Kushima, I, Ikeda, M, Kunimoto, S, Nakamura, Y, Yoshimi, A, Aleksic, B, Banno, M, Kikuchi, T, Kohmura, K, Adachi, Y, Kawano, N, Okada, T, Inada, T, Ujike, H, Iidaka, T, Suzuki, M, Iwata, N & Ozaki, N 2013, 'Common variants in BCL9 gene and schizophrenia in a Japanese population: Association study, meta-analysis and cognitive function analysis', Journal of Medical Biochemistry, vol. 32, no. 4, pp. 361-367. https://doi.org/10.2478/jomb-2013-0049

Common variants in BCL9 gene and schizophrenia in a Japanese population : Association study, meta-analysis and cognitive function analysis. / Shiino, Tomoko; Koide, Takayoshi; Kushima, Itaru; Ikeda, Masashi; Kunimoto, Shohko; Nakamura, Yukako; Yoshimi, Akira; Aleksic, Branko; Banno, Masahiro; Kikuchi, Tsutomu; Kohmura, Kunihiro; Adachi, Yasunori; Kawano, Naoko; Okada, Takashi; Inada, Toshiya; Ujike, Hiroshi; Iidaka, Tetsuya; Suzuki, Michio; Iwata, Nakao; Ozaki, Norio.

In: Journal of Medical Biochemistry, Vol. 32, No. 4, 01.10.2013, p. 361-367.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Common variants in BCL9 gene and schizophrenia in a Japanese population

T2 - Association study, meta-analysis and cognitive function analysis

AU - Shiino, Tomoko

AU - Koide, Takayoshi

AU - Kushima, Itaru

AU - Ikeda, Masashi

AU - Kunimoto, Shohko

AU - Nakamura, Yukako

AU - Yoshimi, Akira

AU - Aleksic, Branko

AU - Banno, Masahiro

AU - Kikuchi, Tsutomu

AU - Kohmura, Kunihiro

AU - Adachi, Yasunori

AU - Kawano, Naoko

AU - Okada, Takashi

AU - Inada, Toshiya

AU - Ujike, Hiroshi

AU - Iidaka, Tetsuya

AU - Suzuki, Michio

AU - Iwata, Nakao

AU - Ozaki, Norio

PY - 2013/10/1

Y1 - 2013/10/1

N2 - Background:Schizophrenia is a relatively common disorder, with a lifetime prevalence of about 1%. Family history is the most important risk factor for schizophrenia, consistent with a genetic contribution to its etiology. Recent human genetic studies reported that some common variants located within BCL9 are associated with schizophrenia in the Chinese population, but not associated with bipolar disorder in the Caucasian population. Methods: Single nucleotide variant (SNP) prioritization sample was comprised of 575 patients with schizophrenia and 564 healthy controls with no personal or family history of psychiatric illness. For SNP association analysis, we used an independent Japanese sample set (replication sample) comprising 1464 cases and 1171 controls. For the analysis of cognitive performance, we investigated 115 cases and 87 controls using Continuous Performance Test (CPT-IP) and the Wisconsin Card Sorting Test Keio version (WCST). Meta-selectanalysis was performed using a combined Japanese total sample (N=3735) and a Chinese sample from a previous study. Results: In the replication sample set, we did not detect any association in 2 SNPs (rs672607 and rs10494252) and schizophrenia. Meta-analysis of rs672607 showed significant association (p-value 0.012, odds ratio 0.855). There was a significant (p<0.01) difference between the A/A and G carrier group of rs672607 in CPT mean d' (p=0.0092). Conclusions: We were able to detect evidence for an association between rs672607 in BCL9 and schizophrenia in the meta-analysis of Japanese and Chinese populations. Additionally, this common variant may affect cognitive performance, as measured by the CPT-IP in schizophrenia patients.

AB - Background:Schizophrenia is a relatively common disorder, with a lifetime prevalence of about 1%. Family history is the most important risk factor for schizophrenia, consistent with a genetic contribution to its etiology. Recent human genetic studies reported that some common variants located within BCL9 are associated with schizophrenia in the Chinese population, but not associated with bipolar disorder in the Caucasian population. Methods: Single nucleotide variant (SNP) prioritization sample was comprised of 575 patients with schizophrenia and 564 healthy controls with no personal or family history of psychiatric illness. For SNP association analysis, we used an independent Japanese sample set (replication sample) comprising 1464 cases and 1171 controls. For the analysis of cognitive performance, we investigated 115 cases and 87 controls using Continuous Performance Test (CPT-IP) and the Wisconsin Card Sorting Test Keio version (WCST). Meta-selectanalysis was performed using a combined Japanese total sample (N=3735) and a Chinese sample from a previous study. Results: In the replication sample set, we did not detect any association in 2 SNPs (rs672607 and rs10494252) and schizophrenia. Meta-analysis of rs672607 showed significant association (p-value 0.012, odds ratio 0.855). There was a significant (p<0.01) difference between the A/A and G carrier group of rs672607 in CPT mean d' (p=0.0092). Conclusions: We were able to detect evidence for an association between rs672607 in BCL9 and schizophrenia in the meta-analysis of Japanese and Chinese populations. Additionally, this common variant may affect cognitive performance, as measured by the CPT-IP in schizophrenia patients.

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