Abstract
Several lines of evidence, including genome-wide linkage scans and postmortem brain studies of patients with schizophrenia or bipolar disorder, have suggested that DARPP-32 (dopamine- and cAMP-regulated phosphoprotein, 32 kDa), a key regulatory molecule in the dopaminergic signaling pathway, is involved in these disorders. After evaluating the linkage disequilibrium pattern of the gene encoding DARPP-32 (PPP1R1B; located on 17q12), we conducted association analyses of this gene with schizophrenia and bipolar disorder. Single-marker and haplotypic analyses of four single nucleotide polymorphisms (SNPs; rs879606, rs12601930, rs907094, and rs3764352) in a sample set (subjects with schizophrenia = 384, subjects with bipolar disorder = 318, control subjects = 384) showed that PPP1R1B polymorphisms were not significantly associated with schizophrenia, whereas, even after Bonferroni corrections, significant associations with bipolar disorder were observed for rs12601930 (corrected genotypic p = 0.00059) and rs907094 (corrected allelic p = 0.040). We, however, could not confirm these results in a second independent sample set (subjects with bipolar disorder = 366, control subjects = 370). We now believe that the significant association observed with the first sample set was a result of copy number aberrations in the region surrounding these SNPs. Our findings suggest that PPP1R1B SNPs are unlikely to be related to the development of schizophrenia and bipolar disorder in the Japanese population.
| Original language | English |
|---|---|
| Pages (from-to) | 334-341 |
| Number of pages | 8 |
| Journal | Schizophrenia Research |
| Volume | 100 |
| Issue number | 1-3 |
| DOIs | |
| Publication status | Published - 01-03-2008 |
Fingerprint
All Science Journal Classification (ASJC) codes
- Psychiatry and Mental health
- Biological Psychiatry
Cite this
}
Genetic analysis of the gene coding for DARPP-32 (PPP1R1B) in Japanese patients with schizophrenia or bipolar disorder. / Yoshimi, Akira; Takahashi, Nagahide; Saito, Shinichi; Ito, Yoshihito; Aleksic, Branko; Usui, Hinako; Kawamura, Yukiko; Waki, Yukari; Yoshikawa, Takeo; Kato, Tadafumi; Iwata, Nakao; Inada, Toshiya; Noda, Yukihiro; Ozaki, Norio.
In: Schizophrenia Research, Vol. 100, No. 1-3, 01.03.2008, p. 334-341.Research output: Contribution to journal › Article
TY - JOUR
T1 - Genetic analysis of the gene coding for DARPP-32 (PPP1R1B) in Japanese patients with schizophrenia or bipolar disorder
AU - Yoshimi, Akira
AU - Takahashi, Nagahide
AU - Saito, Shinichi
AU - Ito, Yoshihito
AU - Aleksic, Branko
AU - Usui, Hinako
AU - Kawamura, Yukiko
AU - Waki, Yukari
AU - Yoshikawa, Takeo
AU - Kato, Tadafumi
AU - Iwata, Nakao
AU - Inada, Toshiya
AU - Noda, Yukihiro
AU - Ozaki, Norio
PY - 2008/3/1
Y1 - 2008/3/1
N2 - Several lines of evidence, including genome-wide linkage scans and postmortem brain studies of patients with schizophrenia or bipolar disorder, have suggested that DARPP-32 (dopamine- and cAMP-regulated phosphoprotein, 32 kDa), a key regulatory molecule in the dopaminergic signaling pathway, is involved in these disorders. After evaluating the linkage disequilibrium pattern of the gene encoding DARPP-32 (PPP1R1B; located on 17q12), we conducted association analyses of this gene with schizophrenia and bipolar disorder. Single-marker and haplotypic analyses of four single nucleotide polymorphisms (SNPs; rs879606, rs12601930, rs907094, and rs3764352) in a sample set (subjects with schizophrenia = 384, subjects with bipolar disorder = 318, control subjects = 384) showed that PPP1R1B polymorphisms were not significantly associated with schizophrenia, whereas, even after Bonferroni corrections, significant associations with bipolar disorder were observed for rs12601930 (corrected genotypic p = 0.00059) and rs907094 (corrected allelic p = 0.040). We, however, could not confirm these results in a second independent sample set (subjects with bipolar disorder = 366, control subjects = 370). We now believe that the significant association observed with the first sample set was a result of copy number aberrations in the region surrounding these SNPs. Our findings suggest that PPP1R1B SNPs are unlikely to be related to the development of schizophrenia and bipolar disorder in the Japanese population.
AB - Several lines of evidence, including genome-wide linkage scans and postmortem brain studies of patients with schizophrenia or bipolar disorder, have suggested that DARPP-32 (dopamine- and cAMP-regulated phosphoprotein, 32 kDa), a key regulatory molecule in the dopaminergic signaling pathway, is involved in these disorders. After evaluating the linkage disequilibrium pattern of the gene encoding DARPP-32 (PPP1R1B; located on 17q12), we conducted association analyses of this gene with schizophrenia and bipolar disorder. Single-marker and haplotypic analyses of four single nucleotide polymorphisms (SNPs; rs879606, rs12601930, rs907094, and rs3764352) in a sample set (subjects with schizophrenia = 384, subjects with bipolar disorder = 318, control subjects = 384) showed that PPP1R1B polymorphisms were not significantly associated with schizophrenia, whereas, even after Bonferroni corrections, significant associations with bipolar disorder were observed for rs12601930 (corrected genotypic p = 0.00059) and rs907094 (corrected allelic p = 0.040). We, however, could not confirm these results in a second independent sample set (subjects with bipolar disorder = 366, control subjects = 370). We now believe that the significant association observed with the first sample set was a result of copy number aberrations in the region surrounding these SNPs. Our findings suggest that PPP1R1B SNPs are unlikely to be related to the development of schizophrenia and bipolar disorder in the Japanese population.
UR - http://www.scopus.com/inward/record.url?scp=39849093601&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=39849093601&partnerID=8YFLogxK
U2 - 10.1016/j.schres.2007.10.028
DO - 10.1016/j.schres.2007.10.028
M3 - Article
C2 - 18055181
AN - SCOPUS:39849093601
VL - 100
SP - 334
EP - 341
JO - Schizophrenia Research
JF - Schizophrenia Research
SN - 0920-9964
IS - 1-3
ER -