The human dihydropyrimidinase-related protein 2 gene on chromosome 8p21 is associated with paranoid-type schizophrenia

Nakata, Kenji; Ujike, Hiroshi; Sakai, Ayumu; Takaki, Manabu; Imamura, Takaki; Tanaka, Yuji; Kuroda, Shigetoshi

doi:10.1016/s0006-3223(02)01729-8

Cited by 82 publications

(70 citation statements)

References 33 publications

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“…Population stratification was discussed in the previous studies using the same sample set. 44,45 For further analysis, the SZ patients were subdivided into 90 patients of disorganized type and 110 of nondisorganized type according to the criteria set out in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV). Disorganized type (DSM-IV: 295.10) were previously diagnosed as hebephrenic type (ICD-10: F20.1), and nondisorganized type as paranoid (F20.0), catatonic (F20.2), or undifferentiated type (F20.3), respectively.…”

Section: Subjects In Association Studymentioning

confidence: 99%

“…Disorganized type (DSM-IV: 295.10) were previously diagnosed as hebephrenic type (ICD-10: F20.1), and nondisorganized type as paranoid (F20.0), catatonic (F20.2), or undifferentiated type (F20.3), respectively. 44,45 Assessment for diagnosis and subtype of SZ were performed by trained psychiatrists who did not participate in the genetic analyses, on the basis of all available information including hospital notes. After being provided with a complete description of the study, written informed consent to participate was obtained from all participants prior to examination.…”

Section: Subjects In Association Studymentioning

confidence: 99%

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Serine racemase binds to PICK1: potential relevance to schizophrenia

et al. 2005

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Accumulating evidence from both genetic and clinico-pharmacological studies suggests that D-serine, an endogenous coagonist to the NMDA subtype glutamate receptor, may be implicated in schizophrenia (SZ). Although an association of genes for D-serine degradation, such as D-amino acid oxidase and G72, has been reported, a role for D-serine in SZ has been unclear. In this study, we identify and characterize protein interacting with C-kinase (PICK1) as a protein interactor of the D-serine synthesizing enzyme, serine racemase (SR). The binding of endogenous PICK1 and SR requires the PDZ domain of PICK1. The gene coding for PICK1 is located at chromosome 22q13, a region frequently linked to SZ. In a case-control association study using well-characterized Japanese subjects, we observe an association of the PICK1 gene with SZ, which is more prominent in disorganized SZ. Our findings implicating PICK1 as a susceptibility gene for SZ are consistent with a role for D-serine in the disease.

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Section: Subjects In Association Studymentioning

confidence: 99%

Section: Subjects In Association Studymentioning

confidence: 99%

Serine racemase binds to PICK1: potential relevance to schizophrenia

et al. 2005

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“…The 2236T>C polymorphism in the 3¢ UTR of the dihydropyrimidinase-like 2 gene (DPYSL2; MIM# 602463) was reported to reduce the susceptibility to schizophrenia in a Japanese patient sample (Nakata et al 2003). Based upon the observation that the expression of DPYSL2 is significantly decreased in the frontal cortex of people with schizophrenia and affective disorder (Johnston-Wilson et al 2000), were the C allele to be 'disease-protective', it might reasonably be expected to give rise to increased expression of the gene.…”

Section: Dpysl2: Predicted Functional Consequence Partially Consistenmentioning

confidence: 99%

Searching for potential microRNA-binding site mutations amongst known disease-associated 3′ UTR variants

Chuzhanova

Cooper

Férec

et al. 2007

HUGO J

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The 3¢ untranslated regions (3¢ UTRs) of human protein-coding genes play a pivotal role in the regulation of mRNA 3¢ end formation, stability/degradation, nuclear export, subcellular localisation and translation, and hence are particularly rich in cis-acting regulatory elements. One recent addition to the already large repertoire of known cis-acting regulatory elements are the microRNA (miRNA) target sites that are present in the 3¢ UTRs of many human genes.

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“…Several studies have reported the association between DPYSL2 and psychiatric disorders, including schizophrenia, [8][9][10] bipolar disorders, neuroblastoma, epilepsy and Down syndrome. Nakata et al 9 reported that the *2236C allele in the 3¢ untranslated region of DPYSL2 was associated with schizophrenia, especially paranoid type (odds ratio 0.49), and they described the possible involvement of the nucleotide change in the regulation of mRNA stability or translational efficiency.…”

mentioning

confidence: 99%

“…Nakata et al 9 reported that the *2236C allele in the 3¢ untranslated region of DPYSL2 was associated with schizophrenia, especially paranoid type (odds ratio 0.49), and they described the possible involvement of the nucleotide change in the regulation of mRNA stability or translational efficiency. However, replication studies in some populations have been inconsistent (SZGene; http://www.schizophreniaforum.org/ res/sczgene/default.asp).…”

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confidence: 99%