Polymorphism analysis of the upstream region of the human N-methyl- d-aspartate receptor subunit NR1 gene ( GRIN1): implications for schizophrenia
Dysfunction of the gene for the NR1 subunit of the N-methyl- d-aspartate (NMDA) receptor ( GRIN1) has been implicated in the pathogenesis of schizophrenia. In support of this hypothesis are behavioral abnormalities reminiscent of schizophrenia in mice with an attenuated expression of the NR1 subunit...
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| Veröffentlicht in: | Schizophrenia research 2002-11, Vol.58 (1), p.83-86 |
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| container_title | Schizophrenia research |
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| creator | Tani, Ayako Kikuta, Rumiko Itoh, Kanako Joo, Akiko Shibata, Hiroki Ninomiya, Hideaki Tashiro, Nobutada Fukumaki, Yasuyuki |
| description | Dysfunction of the gene for the NR1 subunit of the
N-methyl-
d-aspartate (NMDA) receptor (
GRIN1) has been implicated in the pathogenesis of schizophrenia. In support of this hypothesis are behavioral abnormalities reminiscent of schizophrenia in mice with an attenuated expression of the NR1 subunit receptor and the reduced level of NR1 mRNA in postmortem brains of patients with schizophrenia. We screened single nucleotide polymorphisms (SNPs) in the upstream region between +51 and −941 from the translation initiation codon of
GRIN1 and identified 17 SNPs, 10 of which were located within the region containing the Sp1 motif and the GSG motifs. As genotyping of 191–196 Japanese patients with schizophrenia and 202–216 controls revealed no significant association between schizophrenia and the SNPs in the upstream region of
GRIN1, these SNPs apparently do not play a critical role in the pathogenesis of schizophrenia in the Japanese population. |
| doi_str_mv | 10.1016/S0920-9964(02)00161-5 |
| format | Article |
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N-methyl-
d-aspartate (NMDA) receptor (
GRIN1) has been implicated in the pathogenesis of schizophrenia. In support of this hypothesis are behavioral abnormalities reminiscent of schizophrenia in mice with an attenuated expression of the NR1 subunit receptor and the reduced level of NR1 mRNA in postmortem brains of patients with schizophrenia. We screened single nucleotide polymorphisms (SNPs) in the upstream region between +51 and −941 from the translation initiation codon of
GRIN1 and identified 17 SNPs, 10 of which were located within the region containing the Sp1 motif and the GSG motifs. As genotyping of 191–196 Japanese patients with schizophrenia and 202–216 controls revealed no significant association between schizophrenia and the SNPs in the upstream region of
GRIN1, these SNPs apparently do not play a critical role in the pathogenesis of schizophrenia in the Japanese population.</description><identifier>ISSN: 0920-9964</identifier><identifier>EISSN: 1573-2509</identifier><identifier>DOI: 10.1016/S0920-9964(02)00161-5</identifier><identifier>PMID: 12363394</identifier><language>eng</language><publisher>Amsterdam: Elsevier B.V</publisher><subject>5' Flanking Region - genetics ; Adult and adolescent clinical studies ; Alleles ; Association ; Biological and medical sciences ; Chi-Square Distribution ; Female ; Genotype ; Humans ; Male ; Medical sciences ; Middle Aged ; N-methyl- d-aspartate receptor subunit NR1 gene ( GRIN1) ; Polymerase Chain Reaction ; Polymorphism ; Polymorphism, Single Nucleotide ; Polymorphism, Single-Stranded Conformational ; Promoter ; Psychology. Psychoanalysis. Psychiatry ; Psychopathology. Psychiatry ; Psychoses ; Receptors, N-Methyl-D-Aspartate - genetics ; Schizophrenia ; Schizophrenia - genetics ; Sequence Analysis, DNA ; Transcription</subject><ispartof>Schizophrenia research, 2002-11, Vol.58 (1), p.83-86</ispartof><rights>2002 Elsevier Science B.V.</rights><rights>2002 INIST-CNRS</rights><rights>Copyright 2002 Elsevier Science B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c435t-bd8cc27b5ebc7b28231ca957b1c965b524e5c54c0098c55ddb4e8b21c51af133</citedby><cites>FETCH-LOGICAL-c435t-bd8cc27b5ebc7b28231ca957b1c965b524e5c54c0098c55ddb4e8b21c51af133</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0920-9964(02)00161-5$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13969136$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12363394$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tani, Ayako</creatorcontrib><creatorcontrib>Kikuta, Rumiko</creatorcontrib><creatorcontrib>Itoh, Kanako</creatorcontrib><creatorcontrib>Joo, Akiko</creatorcontrib><creatorcontrib>Shibata, Hiroki</creatorcontrib><creatorcontrib>Ninomiya, Hideaki</creatorcontrib><creatorcontrib>Tashiro, Nobutada</creatorcontrib><creatorcontrib>Fukumaki, Yasuyuki</creatorcontrib><title>Polymorphism analysis of the upstream region of the human N-methyl- d-aspartate receptor subunit NR1 gene ( GRIN1): implications for schizophrenia</title><title>Schizophrenia research</title><addtitle>Schizophr Res</addtitle><description>Dysfunction of the gene for the NR1 subunit of the
N-methyl-
d-aspartate (NMDA) receptor (
GRIN1) has been implicated in the pathogenesis of schizophrenia. In support of this hypothesis are behavioral abnormalities reminiscent of schizophrenia in mice with an attenuated expression of the NR1 subunit receptor and the reduced level of NR1 mRNA in postmortem brains of patients with schizophrenia. We screened single nucleotide polymorphisms (SNPs) in the upstream region between +51 and −941 from the translation initiation codon of
GRIN1 and identified 17 SNPs, 10 of which were located within the region containing the Sp1 motif and the GSG motifs. As genotyping of 191–196 Japanese patients with schizophrenia and 202–216 controls revealed no significant association between schizophrenia and the SNPs in the upstream region of
GRIN1, these SNPs apparently do not play a critical role in the pathogenesis of schizophrenia in the Japanese population.</description><subject>5' Flanking Region - genetics</subject><subject>Adult and adolescent clinical studies</subject><subject>Alleles</subject><subject>Association</subject><subject>Biological and medical sciences</subject><subject>Chi-Square Distribution</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>N-methyl- d-aspartate receptor subunit NR1 gene ( GRIN1)</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Promoter</subject><subject>Psychology. Psychoanalysis. Psychiatry</subject><subject>Psychopathology. Psychiatry</subject><subject>Psychoses</subject><subject>Receptors, N-Methyl-D-Aspartate - genetics</subject><subject>Schizophrenia</subject><subject>Schizophrenia - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>Transcription</subject><issn>0920-9964</issn><issn>1573-2509</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0c1u1DAQB3ALgehSeASQL6D2EPBHnKy5oKqCUqlaUOndsieTxiiJU9tB2j4GT0y2u9AjJ0uj34xH_yHkNWfvOePVhx9MC1ZoXZUnTJyypcQL9YSsuKplIRTTT8nqHzkiL1L6yRalWP2cHHEhKyl1uSK_v4d-O4Q4dT4N1I623yafaGhp7pDOU8oR7UAj3vow_i1382BHuikGzN22L2hT2DTZmG3GRQJOOUSaZjePPtPNNae3OCI9oRfXlxt--pH6Yeo92LyMTLTdWej8fZi6iKO3L8mz1vYJXx3eY3Lz5fPN-dfi6tvF5fnZVQGlVLlwzRpA1E6hg9qJtZAcrFa146Ar5ZQoUYEqgTG9BqWaxpW4doKD4rblUh6Td_uxUwx3M6ZsBp8A-96OGOZkasGVUutqgWoPIYaUIrZmin6wcWs4M7tbmIdbmF3QhgnzcAujlr43hw9mN2Dz2HUIfwFvD8AmsH0b7Qg-PTqpK83lboFPe4dLGr88RpPA4wjY-CXtbJrg_7PKH9aZp6s</recordid><startdate>20021101</startdate><enddate>20021101</enddate><creator>Tani, Ayako</creator><creator>Kikuta, Rumiko</creator><creator>Itoh, Kanako</creator><creator>Joo, Akiko</creator><creator>Shibata, Hiroki</creator><creator>Ninomiya, Hideaki</creator><creator>Tashiro, Nobutada</creator><creator>Fukumaki, Yasuyuki</creator><general>Elsevier B.V</general><general>Elsevier Science</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20021101</creationdate><title>Polymorphism analysis of the upstream region of the human N-methyl- d-aspartate receptor subunit NR1 gene ( GRIN1): implications for schizophrenia</title><author>Tani, Ayako ; Kikuta, Rumiko ; Itoh, Kanako ; Joo, Akiko ; Shibata, Hiroki ; Ninomiya, Hideaki ; Tashiro, Nobutada ; Fukumaki, Yasuyuki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c435t-bd8cc27b5ebc7b28231ca957b1c965b524e5c54c0098c55ddb4e8b21c51af133</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>5' Flanking Region - genetics</topic><topic>Adult and adolescent clinical studies</topic><topic>Alleles</topic><topic>Association</topic><topic>Biological and medical sciences</topic><topic>Chi-Square Distribution</topic><topic>Female</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>N-methyl- d-aspartate receptor subunit NR1 gene ( GRIN1)</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Promoter</topic><topic>Psychology. Psychoanalysis. Psychiatry</topic><topic>Psychopathology. Psychiatry</topic><topic>Psychoses</topic><topic>Receptors, N-Methyl-D-Aspartate - genetics</topic><topic>Schizophrenia</topic><topic>Schizophrenia - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Transcription</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tani, Ayako</creatorcontrib><creatorcontrib>Kikuta, Rumiko</creatorcontrib><creatorcontrib>Itoh, Kanako</creatorcontrib><creatorcontrib>Joo, Akiko</creatorcontrib><creatorcontrib>Shibata, Hiroki</creatorcontrib><creatorcontrib>Ninomiya, Hideaki</creatorcontrib><creatorcontrib>Tashiro, Nobutada</creatorcontrib><creatorcontrib>Fukumaki, Yasuyuki</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Schizophrenia research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tani, Ayako</au><au>Kikuta, Rumiko</au><au>Itoh, Kanako</au><au>Joo, Akiko</au><au>Shibata, Hiroki</au><au>Ninomiya, Hideaki</au><au>Tashiro, Nobutada</au><au>Fukumaki, Yasuyuki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Polymorphism analysis of the upstream region of the human N-methyl- d-aspartate receptor subunit NR1 gene ( GRIN1): implications for schizophrenia</atitle><jtitle>Schizophrenia research</jtitle><addtitle>Schizophr Res</addtitle><date>2002-11-01</date><risdate>2002</risdate><volume>58</volume><issue>1</issue><spage>83</spage><epage>86</epage><pages>83-86</pages><issn>0920-9964</issn><eissn>1573-2509</eissn><abstract>Dysfunction of the gene for the NR1 subunit of the
N-methyl-
d-aspartate (NMDA) receptor (
GRIN1) has been implicated in the pathogenesis of schizophrenia. In support of this hypothesis are behavioral abnormalities reminiscent of schizophrenia in mice with an attenuated expression of the NR1 subunit receptor and the reduced level of NR1 mRNA in postmortem brains of patients with schizophrenia. We screened single nucleotide polymorphisms (SNPs) in the upstream region between +51 and −941 from the translation initiation codon of
GRIN1 and identified 17 SNPs, 10 of which were located within the region containing the Sp1 motif and the GSG motifs. As genotyping of 191–196 Japanese patients with schizophrenia and 202–216 controls revealed no significant association between schizophrenia and the SNPs in the upstream region of
GRIN1, these SNPs apparently do not play a critical role in the pathogenesis of schizophrenia in the Japanese population.</abstract><cop>Amsterdam</cop><pub>Elsevier B.V</pub><pmid>12363394</pmid><doi>10.1016/S0920-9964(02)00161-5</doi><tpages>4</tpages></addata></record> |
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| subjects | 5' Flanking Region - genetics Adult and adolescent clinical studies Alleles Association Biological and medical sciences Chi-Square Distribution Female Genotype Humans Male Medical sciences Middle Aged N-methyl- d-aspartate receptor subunit NR1 gene ( GRIN1) Polymerase Chain Reaction Polymorphism Polymorphism, Single Nucleotide Polymorphism, Single-Stranded Conformational Promoter Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Psychoses Receptors, N-Methyl-D-Aspartate - genetics Schizophrenia Schizophrenia - genetics Sequence Analysis, DNA Transcription |
| title | Polymorphism analysis of the upstream region of the human N-methyl- d-aspartate receptor subunit NR1 gene ( GRIN1): implications for schizophrenia |
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