Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.
Identifieur interne : 001764 ( Main/Merge ); précédent : 001763; suivant : 001765Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.
Auteurs : Jobst Meyer [Allemagne] ; 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
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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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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></record>Pour manipuler ce document sous Unix (Dilib)
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