Papiol, Sergi

[["dc.bibliographiccitation.journal","Molecular Psychiatry"],["dc.contributor.author","Amare, Azmeraw T."],["dc.contributor.author","Schubert, Klaus Oliver"],["dc.contributor.author","Hou, Liping"],["dc.contributor.author","Clark, Scott R."],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Cearns, Micah"],["dc.contributor.author","Heilbronner, Urs"],["dc.contributor.author","Degenhardt, Franziska"],["dc.contributor.author","Tekola-Ayele, Fasil"],["dc.contributor.author","Hsu, Yi-Hsiang"],["dc.contributor.author","Baune, Bernhard T."],["dc.date.accessioned","2020-12-10T18:09:37Z"],["dc.date.available","2020-12-10T18:09:37Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1038/s41380-020-0689-5"],["dc.identifier.eissn","1476-5578"],["dc.identifier.issn","1359-4184"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/73707"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Association of polygenic score for major depression with response to lithium in patients with bipolar disorder"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","879"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","Archives of General Psychiatry"],["dc.bibliographiccitation.lastpage","888"],["dc.bibliographiccitation.volume","67"],["dc.contributor.author","Begemann, Martin"],["dc.contributor.author","Grube, Sabrina"],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Malzahn, Dörte"],["dc.contributor.author","Krampe, Henning"],["dc.contributor.author","Ribbe, Katja"],["dc.contributor.author","Friedrichs, Heidi"],["dc.contributor.author","Radyushkin, Konstantin"],["dc.contributor.author","El-Kordi, Ahmed"],["dc.contributor.author","Benseler, Fritz"],["dc.contributor.author","Hannke, Kathrin"],["dc.contributor.author","Sperling, Swetlana"],["dc.contributor.author","Schwerdtfeger, Dayana"],["dc.contributor.author","Thanhäuser, Ivonne"],["dc.contributor.author","Gerchen, Martin Fungisai"],["dc.contributor.author","Ghorbani, Mohammed"],["dc.contributor.author","Gutwinski, Stefan"],["dc.contributor.author","Hilmes, Constanze"],["dc.contributor.author","Leppert, Richard"],["dc.contributor.author","Ronnenberg, Anja"],["dc.contributor.author","Sowislo, Julia"],["dc.contributor.author","Stawicki, Sabina"],["dc.contributor.author","Stödtke, Maren"],["dc.contributor.author","Szuszies, Christoph"],["dc.contributor.author","Reim, Kerstin"],["dc.contributor.author","Riggert, Joachim"],["dc.contributor.author","Eckstein, Fritz"],["dc.contributor.author","Falkai, Peter"],["dc.contributor.author","Bickeböller, Heike"],["dc.contributor.author","Nave, Klaus-Armin"],["dc.contributor.author","Brose, Nils"],["dc.contributor.author","Ehrenreich, Hannelore"],["dc.date.accessioned","2017-09-07T11:46:57Z"],["dc.date.available","2017-09-07T11:46:57Z"],["dc.date.issued","2010"],["dc.description.abstract","Context: Schizophrenia is the collective term for a heterogeneous group of mental disorders with a still obscure biological basis. In particular, the specific contribution of risk or candidate gene variants to the complex schizophrenic phenotype is largely unknown. Objective: To prepare the ground for a novel “phenomics” approach, a unique schizophrenia patient database was established by GRAS (Göttingen Research Association for Schizophrenia), designed to allow association of genetic information with quantifiable phenotypes. Because synaptic dysfunction plays a key role in schizophrenia, the complexin 2 gene (CPLX2) was examined in the first phenotype-based genetic association study (PGAS) of GRAS. Design: Subsequent to a classic case-control approach, we analyzed the contribution of CPLX2 polymorphisms to discrete cognitive domains within the schizophrenic population. To gain mechanistic insight into how certain CPLX2 variants influence gene expression and function, peripheral blood mononuclear cells of patients, Cplxnull mutantmice, and transfected cells were investigated.Setting: Coordinating research center (Max Planck Institute of Experimental Medicine) and 23 collaboratingpsychiatric centers all over Germany.Participants: One thousand seventy-one patients with schizophrenia (DSM-IV) examined by an invariant investigator team, resulting in the GRAS database with more than 3000 phenotypic data points per patient, and 1079 healthy control subjects of comparable ethnicity.Main Outcome Measure: Cognitive performance including executive functioning, reasoning, and verbal learning/memory. Results: Six single-nucleotide polymorphisms, distributed over the whole CPLX2 gene, were found to be highly associated with current cognition of schizophrenic subjects but only marginally with premorbid intelligence. Correspondingly, in Cplx2-null mutant mice, prominent cognitive loss of function was obtained only in combination with a minor brain lesion applied during puberty, modeling a clinically relevant environmental risk (“second hit”) for schizophrenia. In the human CPLX2 gene, 1 of the identified 6 cognition-relevant single-nucleotide polymorphisms, rs3822674 in the 3´ untranslated region, was detected to influence microRNA-498 binding and gene expression. The same marker was associated with differential expression of CPLX2 in peripheral blood mononuclear cells. Conclusions: The PGAS allows identification of markerassociated clinical/biological traits. Current cognitive performance in schizophrenic patients is modified by CPLX2 variants modulating posttranscriptional gene expression"],["dc.identifier.doi","10.1001/archgenpsychiatry.2010.107"],["dc.identifier.fs","577608"],["dc.identifier.gro","3150567"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6097"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/7343"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.notes.status","final"],["dc.rights.access","closedAccess"],["dc.subject","Schizophrenia"],["dc.subject.ddc","610"],["dc.title","Modification of cognitive performance in schizophrenia by complexin 2 gene polymorphisms"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","no"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","4076"],["dc.bibliographiccitation.issue","20"],["dc.bibliographiccitation.journal","Human Molecular Genetics"],["dc.bibliographiccitation.lastpage","4081"],["dc.bibliographiccitation.volume","20"],["dc.contributor.author","Steinberg, Stacy"],["dc.contributor.author","de Jong, Simone"],["dc.contributor.author","Andreassen, Ole A."],["dc.contributor.author","Werge, Thomas"],["dc.contributor.author","Børglum, Anders D."],["dc.contributor.author","Mors, Ole"],["dc.contributor.author","Mortensen, Preben B."],["dc.contributor.author","Gustafsson, Omar"],["dc.contributor.author","Costas, Javier"],["dc.contributor.author","Pietiläinen, Olli P. H."],["dc.contributor.author","Demontis, Ditte"],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Huttenlocher, Johanna"],["dc.contributor.author","Mattheisen, Manuel"],["dc.contributor.author","Breuer, René"],["dc.contributor.author","Vassos, Evangelos"],["dc.contributor.author","Giegling, Ina"],["dc.contributor.author","Fraser, Gillian"],["dc.contributor.author","Walker, Nicholas"],["dc.contributor.author","Tuulio-Henriksson, Annamari"],["dc.contributor.author","Suvisaari, Jaana"],["dc.contributor.author","Lönnqvist, Jouko"],["dc.contributor.author","Paunio, Tiina"],["dc.contributor.author","Agartz, Ingrid"],["dc.contributor.author","Melle, Ingrid"],["dc.contributor.author","Djurovic, Srdjan"],["dc.contributor.author","Strengman, Eric"],["dc.contributor.author","Jürgens, Gesche"],["dc.contributor.author","Glenthøj, Birte"],["dc.contributor.author","Terenius, Lars"],["dc.contributor.author","Hougaard, David M."],["dc.contributor.author","Ørntoft, Torben"],["dc.contributor.author","Wiuf, Carsten"],["dc.contributor.author","Didriksen, Michael"],["dc.contributor.author","Hollegaard, Mads V."],["dc.contributor.author","Nordentoft, Merete"],["dc.contributor.author","Winkel, Ruud van"],["dc.contributor.author","Kenis, Gunter"],["dc.contributor.author","Abramova, Lilia"],["dc.contributor.author","Kaleda, Vasily"],["dc.contributor.author","Arrojo, Manuel"],["dc.contributor.author","Sanjuán, Julio"],["dc.contributor.author","Arango, Celso"],["dc.contributor.author","Sperling, Swetlana"],["dc.contributor.author","Rossner, Moritz J."],["dc.contributor.author","Ribolsi, Michele"],["dc.contributor.author","Magni, Valentina"],["dc.contributor.author","Siracusano, Alberto"],["dc.contributor.author","Christiansen, Claus"],["dc.contributor.author","Kiemeney, Lambertus A."],["dc.contributor.author","Veldink, Jan"],["dc.contributor.author","Van den Berg, Leonard"],["dc.contributor.author","Ingason, Andres"],["dc.contributor.author","Muglia, Pierandrea"],["dc.contributor.author","Murray, Robin M."],["dc.contributor.author","Nöthen, Markus M."],["dc.contributor.author","Sigurdsson, Engilbert"],["dc.contributor.author","Petursson, Hannes"],["dc.contributor.author","Thorsteinsdottir, Unnur"],["dc.contributor.author","Kong, Augustine"],["dc.contributor.author","Rubino, I. Alex"],["dc.contributor.author","Hert, Marc de"],["dc.contributor.author","Réthelyi, János M."],["dc.contributor.author","Bitter, István"],["dc.contributor.author","Jönsson, Erik G."],["dc.contributor.author","Golimbet, Vera"],["dc.contributor.author","Carracedo, Angel"],["dc.contributor.author","Ehrenreich, Hannelore"],["dc.contributor.author","Craddock, Nick"],["dc.contributor.author","Owen, Michael J."],["dc.contributor.author","O’Donovan, Michael C."],["dc.contributor.author","Ruggeri, Mirella"],["dc.contributor.author","Tosato, Sarah"],["dc.contributor.author","Peltonen, Leena"],["dc.contributor.author","Ophoff, Roel A."],["dc.contributor.author","Collier, David A."],["dc.contributor.author","St Clair, David"],["dc.contributor.author","Rietschel, Marcella"],["dc.contributor.author","Cichon, Sven"],["dc.contributor.author","Stefansson, Hreinn"],["dc.contributor.author","Rujescu, Dan"],["dc.contributor.author","Stefansson, Kari"],["dc.date.accessioned","2017-09-07T11:46:19Z"],["dc.date.available","2017-09-07T11:46:19Z"],["dc.date.issued","2011"],["dc.description.abstract","Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants showing genome-wide significant association: rs2312147[C], upstream of vaccinia-related kinase 2 (VRK2) [odds ratio (OR) = 1.09, P = 1.9 × 10(-9)] and rs4309482[A], between coiled-coiled domain containing 68 (CCDC68) and TCF4, about 400 kb from the previously described risk allele, but not accounted for by its association (OR = 1.09, P = 7.8 × 10(-9))."],["dc.identifier.doi","10.1093/hmg/ddr325"],["dc.identifier.gro","3150487"],["dc.identifier.pmid","21791550"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/7257"],["dc.language.iso","en"],["dc.notes.status","final"],["dc.title","Common variants at VRK2 and TCF4 conferring risk of schizophrenia"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","29"],["dc.bibliographiccitation.journal","Schizophrenia Research"],["dc.bibliographiccitation.lastpage","38"],["dc.bibliographiccitation.volume","244"],["dc.contributor.author","Schulte, Eva C."],["dc.contributor.author","Kondofersky, Ivan"],["dc.contributor.author","Budde, Monika"],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Senner, Fanny"],["dc.contributor.author","Schaupp, Sabrina K."],["dc.contributor.author","Reich-Erkelenz, Daniela"],["dc.contributor.author","Klöhn-Saghatolislam, Farahnaz"],["dc.contributor.author","Kalman, Janos L."],["dc.contributor.author","Gade, Katrin"],["dc.contributor.author","Schulze, Thomas G."],["dc.date.accessioned","2022-06-01T09:38:59Z"],["dc.date.available","2022-06-01T09:38:59Z"],["dc.date.issued","2022"],["dc.identifier.doi","10.1016/j.schres.2022.05.001"],["dc.identifier.pii","S0920996422001633"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/108361"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-572"],["dc.relation.issn","0920-9964"],["dc.rights.uri","https://www.elsevier.com/tdm/userlicense/1.0/"],["dc.title","A novel longitudinal clustering approach to psychopathology across diagnostic entities in the hospital-based PsyCourse study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","S968"],["dc.bibliographiccitation.journal","European Neuropsychopharmacology"],["dc.bibliographiccitation.volume","29"],["dc.contributor.author","Gade, Katrin"],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Heilbronner, Urs"],["dc.contributor.author","Budde, Monika"],["dc.contributor.author","Adorjan, Kristina"],["dc.contributor.author","Anderson-Schmidt, Heike"],["dc.contributor.author","Kalman, Janos"],["dc.contributor.author","Aldinger, Fanny"],["dc.contributor.author","Andlauer, Till F.M."],["dc.contributor.author","Schulze, Thomas"],["dc.date.accessioned","2020-12-10T14:23:55Z"],["dc.date.available","2020-12-10T14:23:55Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1016/j.euroneuro.2017.08.333"],["dc.identifier.issn","0924-977X"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/72075"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","THE IMPACT OF BIPOLAR AND SCHIZOPHRENIA POLYGENIC RISK SCORES ON FAMILIAL FEATURES OF BIPOLAR DISORDER"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","340"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],["dc.bibliographiccitation.lastpage","345"],["dc.bibliographiccitation.volume","156B"],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Begemann, Martin"],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Friedrichs, Heidi"],["dc.contributor.author","Ribbe, Katja"],["dc.contributor.author","Grube, Sabrina"],["dc.contributor.author","Schwab, Markus H."],["dc.contributor.author","Jahn, Henriette"],["dc.contributor.author","Gunkel, Stefan"],["dc.contributor.author","Benseler, Fritz"],["dc.contributor.author","Nave, Klaus-Armin"],["dc.contributor.author","Ehrenreich, Hannelore"],["dc.date.accessioned","2017-09-07T11:46:36Z"],["dc.date.available","2017-09-07T11:46:36Z"],["dc.date.issued","2011"],["dc.description.abstract","By pure endpoint diagnosis of the disease, the risk of developing schizophrenia has been repeatedly associated with specific variants of the neuregulin1 (NRG1) gene. However, the role of NRG1 in the etiology of schizophrenia has remained unclear. Since Nrg1 serves vital functions in early brain development of mice, we hypothesized that human NRG1 alleles codetermine developmentally influenced readouts of the disease: age of onset and positive symptom severity. We analyzed 1,071 comprehensively phenotyped schizophrenic/schizoaffective patients, diagnosed according to DSM-IV-TR, from the GRAS (Göttingen Research Association for Schizophrenia) Data Collection for genetic variability in the Icelandic region of risk in the NRG1 gene. For the case-control analysis part of the study, we included 1,056 healthy individuals with comparable ethnicity. The phenotype-based genetic association study (PGAS) was performed on the GRAS sample. Instead of a risk constellation, we detected that several haplotypic variants of NRG1 were, unexpectedly, less frequent in the schizophrenic than in the control sample (mean OR=0.78, range between 0.68 and 0.85). In the PGAS we found that these \"protective\" NRG1 variants are specifically underrepresented in subgroups of schizophrenic subjects with early age of onset and high positive symptom load. The GRAS Data Collection as a prerequisite for PGAS has enabled us to associate protective NRG1 genotypes with later onset and milder course of schizophrenia."],["dc.identifier.doi","10.1002/ajmg.b.31168"],["dc.identifier.gro","3150547"],["dc.identifier.pmid","21234898"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/7321"],["dc.language.iso","en"],["dc.notes.status","final"],["dc.title","A phenotype-based genetic association study reveals the contribution of neuregulin1 gene variants to age of onset and positive symptom severity in schizophrenia"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","S1300"],["dc.bibliographiccitation.journal","European Neuropsychopharmacology"],["dc.bibliographiccitation.lastpage","S1301"],["dc.bibliographiccitation.volume","29"],["dc.contributor.author","Comes, Ashley"],["dc.contributor.author","Adorjan, Kristina"],["dc.contributor.author","Andlauer, Till"],["dc.contributor.author","Budde, Monika"],["dc.contributor.author","Degenhardt, Franziska"],["dc.contributor.author","Forstner, Andreas J."],["dc.contributor.author","Gade, Katrin"],["dc.contributor.author","Heilbronner, Urs"],["dc.contributor.author","Kalman, Janos"],["dc.contributor.author","Kondofersky, Ivan"],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Senner, Fanny"],["dc.contributor.author","Sivalingam, Sugirthan"],["dc.contributor.author","Falkai, Peter"],["dc.contributor.author","Schulze, Thomas"],["dc.date.accessioned","2020-12-10T14:23:56Z"],["dc.date.available","2020-12-10T14:23:56Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1016/j.euroneuro.2018.08.426"],["dc.identifier.issn","0924-977X"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/72083"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","SU62THE ROLE OF ENVIRONMENTAL STRESS AND DNA METHYLATION IN THE LONGITUDINAL COURSE OF BIPOLAR DISORDER"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","JAMA Psychiatry"],["dc.contributor.author","Amare, Azmeraw T."],["dc.contributor.author","Schubert, Klaus Oliver"],["dc.contributor.author","Hou, Liping"],["dc.contributor.author","Clark, Scott R."],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Heilbronner, Urs"],["dc.contributor.author","Degenhardt, Franziska"],["dc.contributor.author","Tekola-Ayele, Fasil"],["dc.contributor.author","Hsu, Yi-Hsiang"],["dc.contributor.author","Shekhtman, Tatyana"],["dc.contributor.author","Baune, Bernhard T."],["dc.date.accessioned","2020-12-10T14:05:46Z"],["dc.date.available","2020-12-10T14:05:46Z"],["dc.date.issued","2017"],["dc.identifier.doi","10.1001/jamapsychiatry.2017.3433"],["dc.identifier.issn","2168-622X"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/69650"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder"],["dc.title.alternative","A Genome-Wide Association Study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","17823"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Scientific Reports"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Le Clerc, Sigrid"],["dc.contributor.author","Lombardi, Laura"],["dc.contributor.author","Baune, Bernhard T."],["dc.contributor.author","Amare, Azmeraw T."],["dc.contributor.author","Schubert, Klaus Oliver"],["dc.contributor.author","Hou, Liping"],["dc.contributor.author","Clark, Scott R."],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Cearns, Micah"],["dc.contributor.author","Heilbronner, Urs"],["dc.contributor.author","Tamouza, Ryad"],["dc.date.accessioned","2021-10-01T09:57:45Z"],["dc.date.available","2021-10-01T09:57:45Z"],["dc.date.issued","2021"],["dc.description.abstract","Abstract Bipolar affective disorder (BD) is a severe psychiatric illness, for which lithium (Li) is the gold standard for acute and maintenance therapies. The therapeutic response to Li in BD is heterogeneous and reliable biomarkers allowing patients stratification are still needed. A GWAS performed by the International Consortium on Lithium Genetics (ConLiGen) has recently identified genetic markers associated with treatment responses to Li in the human leukocyte antigens (HLA) region. To better understand the molecular mechanisms underlying this association, we have genetically imputed the classical alleles of the HLA region in the European patients of the ConLiGen cohort. We found our best signal for amino-acid variants belonging to the HLA-DRB1 11:01 classical allele, associated with a better response to Li ( p  < 1 × 10 −3 ; FDR < 0.09 in the recessive model). Alanine or Leucine at position 74 of the HLA-DRB1 heavy chain was associated with a good response while Arginine or Glutamic acid with a poor response. As these variants have been implicated in common inflammatory/autoimmune processes, our findings strongly suggest that HLA-mediated low inflammatory background may contribute to the efficient response to Li in BD patients, while an inflammatory status overriding Li anti-inflammatory properties would favor a weak response."],["dc.description.abstract","Abstract Bipolar affective disorder (BD) is a severe psychiatric illness, for which lithium (Li) is the gold standard for acute and maintenance therapies. The therapeutic response to Li in BD is heterogeneous and reliable biomarkers allowing patients stratification are still needed. A GWAS performed by the International Consortium on Lithium Genetics (ConLiGen) has recently identified genetic markers associated with treatment responses to Li in the human leukocyte antigens (HLA) region. To better understand the molecular mechanisms underlying this association, we have genetically imputed the classical alleles of the HLA region in the European patients of the ConLiGen cohort. We found our best signal for amino-acid variants belonging to the HLA-DRB1 11:01 classical allele, associated with a better response to Li ( p  < 1 × 10 −3 ; FDR < 0.09 in the recessive model). Alanine or Leucine at position 74 of the HLA-DRB1 heavy chain was associated with a good response while Arginine or Glutamic acid with a poor response. As these variants have been implicated in common inflammatory/autoimmune processes, our findings strongly suggest that HLA-mediated low inflammatory background may contribute to the efficient response to Li in BD patients, while an inflammatory status overriding Li anti-inflammatory properties would favor a weak response."],["dc.identifier.doi","10.1038/s41598-021-97140-7"],["dc.identifier.pii","97140"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/89908"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-469"],["dc.relation.eissn","2045-2322"],["dc.title","HLA-DRB1 and HLA-DQB1 genetic diversity modulates response to lithium in bipolar affective disorders"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","309"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","EMBO Molecular Medicine"],["dc.bibliographiccitation.lastpage","319"],["dc.bibliographiccitation.volume","3"],["dc.contributor.author","Grube, Sabrina"],["dc.contributor.author","Gerchen, Martin F."],["dc.contributor.author","Adamcio, Bartosz"],["dc.contributor.author","Pardo, Luis A."],["dc.contributor.author","Martin, Sabine"],["dc.contributor.author","Malzahn, Dörthe"],["dc.contributor.author","Papiol, Sergi"],["dc.contributor.author","Begemann, Martin"],["dc.contributor.author","Ribbe, Katja"],["dc.contributor.author","Friedrichs, Heidi"],["dc.contributor.author","Radyushkin, Konstantin A."],["dc.contributor.author","Müller, Michael"],["dc.contributor.author","Benseler, Fritz"],["dc.contributor.author","Riggert, Joachim"],["dc.contributor.author","Falkai, Peter"],["dc.contributor.author","Bickeböller, Heike"],["dc.contributor.author","Nave, Klaus-Armin"],["dc.contributor.author","Brose, Nils"],["dc.contributor.author","Stühmer, Walter"],["dc.contributor.author","Ehrenreich, Hannelore"],["dc.date.accessioned","2017-09-07T11:44:13Z"],["dc.date.available","2017-09-07T11:44:13Z"],["dc.date.issued","2011"],["dc.description.abstract","KCNN3, encoding the small conductance calcium-activated potassium channel SK3, harbours a polymorphic CAG repeat in the amino-terminal coding region with yet unproven function. Hypothesizing that KCNN3 genotypes do not influence susceptibility to schizophrenia but modify its phenotype, we explored their contribution to specific schizophrenic symptoms. Using the Gottingen Research Association for Schizophrenia (GRAS) data collection of schizophrenic patients (n=1074), we performed a phenotype-based genetic association study (PGAS) of KCNN3. We show that long CAG repeats in the schizophrenic sample are specifically associated with better performance in higher cognitive tasks, comprising the capacity to discriminate, select and execute (p<0.0001). Long repeats reduce SK3 channel function, as we demonstrate by patch-clamping of transfected HEK293 cells. In contrast, modelling the opposite in mice, i.e. KCNN3 overexpression/channel hyperfunction, leads to selective deficits in higher brain functions comparable to those influenced by SK3 conductance in humans. To conclude, KCNN3 genotypes modify cognitive performance, shown here in a large sample of schizophrenic patients. Reduction of SK3 function may constitute a pharmacological target to improve cognition in schizophrenia and other conditions with cognitive impairment."],["dc.identifier.doi","10.1002/emmm.201100135"],["dc.identifier.gro","3142723"],["dc.identifier.isi","000292277600003"],["dc.identifier.pmid","21433290"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/8179"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/159"],["dc.language.iso","en"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","1757-4676"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","A CAG repeat polymorphism of KCNN3 predicts SK3 channel function and cognitive performance in schizophrenia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]