Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.
Identifieur interne : 000698 ( PubMed/Corpus ); précédent : 000697; suivant : 000699Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.
Auteurs : Jobst Meyer ; Kirsten Johannssen ; Christine M. Freitag ; Kerstin Schraut ; Isabel Teuber ; Astrid Hahner ; Christian Mainhardt ; Rainald Mössner ; Hans-Peter Volz ; Thomas F. Wienker ; Darleen Mckeane ; Dietrich A. Stephan ; Guy Rouleau ; Andreas Reif ; Klaus-Peter LeschSource :
- The international journal of neuropsychopharmacology [ 1461-1457 ] ; 2005.
English descriptors
- KwdEn :
- 5' Untranslated Regions (genetics), Bipolar Disorder (epidemiology), Bipolar Disorder (genetics), Case-Control Studies, Chromosomes, Human, Pair 15 (genetics), DNA Mutational Analysis, Exons (genetics), Genetic Markers, Genotype, Haplotypes, Humans, Introns (genetics), Linkage Disequilibrium (genetics), Linkage Disequilibrium (physiology), Pedigree, Polymorphism, Single-Stranded Conformational, Promoter Regions, Genetic (genetics), Risk Factors, Schizophrenia (genetics), Symporters (genetics).
- MESH :
- chemical , genetics : 5' Untranslated Regions, Symporters.
- epidemiology : Bipolar Disorder.
- genetics : Bipolar Disorder, Chromosomes, Human, Pair 15, Exons, Introns, Linkage Disequilibrium, Promoter Regions, Genetic, Schizophrenia.
- physiology : Linkage Disequilibrium.
- Case-Control Studies, DNA Mutational Analysis, Genetic Markers, Genotype, Haplotypes, Humans, Pedigree, Polymorphism, Single-Stranded Conformational, Risk Factors.
Abstract
Recessive mutations of the potassium chloride co-transporter 3 gene ( SLC12A6 , KCC3 ) cause severe peripheral neuropathy frequently associated with agenesis of the corpus callosum and psychoses (ACCPN). SLC12A6 is localized on chromosome 15q14, a region where linkage to schizophrenia and bipolar disorder has previously been shown. Mutation analysis of SLC12A6 was carried out by direct sequencing of PCR-generated DNA fragments in two affected members of a multiplex family, and three non-affected individuals. A case-control study was performed to assess association of variants with bipolar disorder and schizophrenia in a large sample. Several variants including two rare single nucleotide polymorphisms (G/A, G/A) in the promoter and 5'-UTR, and a thymidine insertion in intron 4 were found. The two G variants and the insertion variant were co-inherited with chromosome 15-related schizophrenia in a large family that strongly supports the region on chromosome 15q14-15 between markers D15S144 and D15S132. Furthermore, they are in linkage disequilibrium with each other, and significantly associated with bipolar disorder in a case-control study. Our data strongly suggest that rare variants of SLC12A6 may represent risk factors for bipolar disorder.
DOI: 10.1017/S1461145705005821
PubMed: 16098236
Links to Exploration step
pubmed:16098236Le document en format XML
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Freitag</name></author><author><name sortKey="Schraut, Kerstin" sort="Schraut, Kerstin" uniqKey="Schraut K" first="Kerstin" last="Schraut">Kerstin Schraut</name></author><author><name sortKey="Teuber, Isabel" sort="Teuber, Isabel" uniqKey="Teuber I" first="Isabel" last="Teuber">Isabel Teuber</name></author><author><name sortKey="Hahner, Astrid" sort="Hahner, Astrid" uniqKey="Hahner A" first="Astrid" last="Hahner">Astrid Hahner</name></author><author><name sortKey="Mainhardt, Christian" sort="Mainhardt, Christian" uniqKey="Mainhardt C" first="Christian" last="Mainhardt">Christian Mainhardt</name></author><author><name sortKey="Mossner, Rainald" sort="Mossner, Rainald" uniqKey="Mossner R" first="Rainald" last="Mössner">Rainald Mössner</name></author><author><name sortKey="Volz, Hans Peter" sort="Volz, Hans Peter" uniqKey="Volz H" first="Hans-Peter" last="Volz">Hans-Peter Volz</name></author><author><name sortKey="Wienker, Thomas F" sort="Wienker, Thomas F" uniqKey="Wienker T" first="Thomas F" last="Wienker">Thomas F. 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Freitag</name></author><author><name sortKey="Schraut, Kerstin" sort="Schraut, Kerstin" uniqKey="Schraut K" first="Kerstin" last="Schraut">Kerstin Schraut</name></author><author><name sortKey="Teuber, Isabel" sort="Teuber, Isabel" uniqKey="Teuber I" first="Isabel" last="Teuber">Isabel Teuber</name></author><author><name sortKey="Hahner, Astrid" sort="Hahner, Astrid" uniqKey="Hahner A" first="Astrid" last="Hahner">Astrid Hahner</name></author><author><name sortKey="Mainhardt, Christian" sort="Mainhardt, Christian" uniqKey="Mainhardt C" first="Christian" last="Mainhardt">Christian Mainhardt</name></author><author><name sortKey="Mossner, Rainald" sort="Mossner, Rainald" uniqKey="Mossner R" first="Rainald" last="Mössner">Rainald Mössner</name></author><author><name sortKey="Volz, Hans Peter" sort="Volz, Hans Peter" uniqKey="Volz H" first="Hans-Peter" last="Volz">Hans-Peter Volz</name></author><author><name sortKey="Wienker, Thomas F" sort="Wienker, Thomas F" uniqKey="Wienker T" first="Thomas F" last="Wienker">Thomas F. Wienker</name></author><author><name sortKey="Mckeane, Darleen" sort="Mckeane, Darleen" uniqKey="Mckeane D" first="Darleen" last="Mckeane">Darleen Mckeane</name></author><author><name sortKey="Stephan, Dietrich A" sort="Stephan, Dietrich A" uniqKey="Stephan D" first="Dietrich A" last="Stephan">Dietrich A. Stephan</name></author><author><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name></author><author><name sortKey="Reif, Andreas" sort="Reif, Andreas" uniqKey="Reif A" first="Andreas" last="Reif">Andreas Reif</name></author><author><name sortKey="Lesch, Klaus Peter" sort="Lesch, Klaus Peter" uniqKey="Lesch K" first="Klaus-Peter" last="Lesch">Klaus-Peter Lesch</name></author></analytic><series><title level="j">The international journal of neuropsychopharmacology</title><idno type="ISSN">1461-1457</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>5' Untranslated Regions (genetics)</term><term>Bipolar Disorder (epidemiology)</term><term>Bipolar Disorder (genetics)</term><term>Case-Control Studies</term><term>Chromosomes, Human, Pair 15 (genetics)</term><term>DNA Mutational Analysis</term><term>Exons (genetics)</term><term>Genetic Markers</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Introns (genetics)</term><term>Linkage Disequilibrium (genetics)</term><term>Linkage Disequilibrium (physiology)</term><term>Pedigree</term><term>Polymorphism, Single-Stranded Conformational</term><term>Promoter Regions, Genetic (genetics)</term><term>Risk Factors</term><term>Schizophrenia (genetics)</term><term>Symporters (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>5' Untranslated Regions</term><term>Symporters</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Bipolar Disorder</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Bipolar Disorder</term><term>Chromosomes, Human, Pair 15</term><term>Exons</term><term>Introns</term><term>Linkage Disequilibrium</term><term>Promoter Regions, Genetic</term><term>Schizophrenia</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Linkage Disequilibrium</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Case-Control Studies</term><term>DNA Mutational Analysis</term><term>Genetic Markers</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Pedigree</term><term>Polymorphism, Single-Stranded Conformational</term><term>Risk Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recessive mutations of the potassium chloride co-transporter 3 gene ( SLC12A6 , KCC3 ) cause severe peripheral neuropathy frequently associated with agenesis of the corpus callosum and psychoses (ACCPN). SLC12A6 is localized on chromosome 15q14, a region where linkage to schizophrenia and bipolar disorder has previously been shown. Mutation analysis of SLC12A6 was carried out by direct sequencing of PCR-generated DNA fragments in two affected members of a multiplex family, and three non-affected individuals. A case-control study was performed to assess association of variants with bipolar disorder and schizophrenia in a large sample. Several variants including two rare single nucleotide polymorphisms (G/A, G/A) in the promoter and 5'-UTR, and a thymidine insertion in intron 4 were found. The two G variants and the insertion variant were co-inherited with chromosome 15-related schizophrenia in a large family that strongly supports the region on chromosome 15q14-15 between markers D15S144 and D15S132. Furthermore, they are in linkage disequilibrium with each other, and significantly associated with bipolar disorder in a case-control study. Our data strongly suggest that rare variants of SLC12A6 may represent risk factors for bipolar disorder.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">16098236</PMID><DateCreated><Year>2005</Year><Month>10</Month><Day>05</Day></DateCreated><DateCompleted><Year>2006</Year><Month>01</Month><Day>05</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">1461-1457</ISSN><JournalIssue CitedMedium="Print"><Volume>8</Volume><Issue>4</Issue><PubDate><Year>2005</Year><Month>Dec</Month></PubDate></JournalIssue><Title>The international journal of neuropsychopharmacology</Title><ISOAbbreviation>Int. J. Neuropsychopharmacol.</ISOAbbreviation></Journal><ArticleTitle>Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.</ArticleTitle><Pagination><MedlinePgn>495-504</MedlinePgn></Pagination><Abstract><AbstractText>Recessive mutations of the potassium chloride co-transporter 3 gene ( SLC12A6 , KCC3 ) cause severe peripheral neuropathy frequently associated with agenesis of the corpus callosum and psychoses (ACCPN). SLC12A6 is localized on chromosome 15q14, a region where linkage to schizophrenia and bipolar disorder has previously been shown. Mutation analysis of SLC12A6 was carried out by direct sequencing of PCR-generated DNA fragments in two affected members of a multiplex family, and three non-affected individuals. A case-control study was performed to assess association of variants with bipolar disorder and schizophrenia in a large sample. Several variants including two rare single nucleotide polymorphisms (G/A, G/A) in the promoter and 5'-UTR, and a thymidine insertion in intron 4 were found. The two G variants and the insertion variant were co-inherited with chromosome 15-related schizophrenia in a large family that strongly supports the region on chromosome 15q14-15 between markers D15S144 and D15S132. Furthermore, they are in linkage disequilibrium with each other, and significantly associated with bipolar disorder in a case-control study. Our data strongly suggest that rare variants of SLC12A6 may represent risk factors for bipolar disorder.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Meyer</LastName><ForeName>Jobst</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Clinical and Molecular Psychobiology, Department of Psychiatry and Psychotherapy, University of Wuerzburg, Germany. meyerjo@uni-trier.de</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Johannssen</LastName><ForeName>Kirsten</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Freitag</LastName><ForeName>Christine M</ForeName><Initials>CM</Initials></Author><Author ValidYN="Y"><LastName>Schraut</LastName><ForeName>Kerstin</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Teuber</LastName><ForeName>Isabel</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Hahner</LastName><ForeName>Astrid</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Mainhardt</LastName><ForeName>Christian</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Mössner</LastName><ForeName>Rainald</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Volz</LastName><ForeName>Hans-Peter</ForeName><Initials>HP</Initials></Author><Author ValidYN="Y"><LastName>Wienker</LastName><ForeName>Thomas F</ForeName><Initials>TF</Initials></Author><Author ValidYN="Y"><LastName>McKeane</LastName><ForeName>Darleen</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Stephan</LastName><ForeName>Dietrich A</ForeName><Initials>DA</Initials></Author><Author ValidYN="Y"><LastName>Rouleau</LastName><ForeName>Guy</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Reif</LastName><ForeName>Andreas</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Lesch</LastName><ForeName>Klaus-Peter</ForeName><Initials>KP</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2005</Year><Month>08</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Int J Neuropsychopharmacol</MedlineTA><NlmUniqueID>9815893</NlmUniqueID><ISSNLinking>1461-1457</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D020121">5' Untranslated Regions</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C119650">SLC12A6 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D027981">Symporters</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D020121" MajorTopicYN="N">5' Untranslated Regions</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001714" MajorTopicYN="N">Bipolar Disorder</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016022" MajorTopicYN="N">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002884" MajorTopicYN="N">Chromosomes, Human, Pair 15</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005091" MajorTopicYN="N">Exons</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005819" MajorTopicYN="N">Genetic Markers</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006239" MajorTopicYN="N">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007438" MajorTopicYN="N">Introns</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015810" MajorTopicYN="N">Linkage Disequilibrium</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000502" MajorTopicYN="N">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018807" MajorTopicYN="N">Polymorphism, Single-Stranded Conformational</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011401" MajorTopicYN="N">Promoter Regions, Genetic</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012307" MajorTopicYN="N">Risk Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012559" MajorTopicYN="N">Schizophrenia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D027981" MajorTopicYN="N">Symporters</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2005</Year><Month>03</Month><Day>02</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2005</Year><Month>05</Month><Day>17</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2005</Year><Month>05</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>8</Month><Day>16</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>1</Month><Day>6</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>8</Month><Day>16</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">16098236</ArticleId><ArticleId IdType="pii">S1461145705005821</ArticleId><ArticleId IdType="doi">10.1017/S1461145705005821</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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