{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Giuranna J"],"funding":["Bundesministerium für Bildung und Forschung (Federal Ministry of Education and Research)","European Research Council","Deutsche Forschungsgemeinschaft (German Research Foundation)"],"pagination":["1836-1846"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12014503"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["30(5)"],"pubmed_abstract":["The C-terminal binding protein 2 (CTBP2) gene (translational isoforms: CTBP2-L/S, RIBEYE) had been identified by a cross-trait analysis of genome-wide association studies for anorexia nervosa (AN) and body mass index (BMI). Here, we did a mutation analysis in CTBP2 by performing polymerase chain reactions with subsequent Sanger-sequencing to identify variants relevant for AN and body weight regulation and ensued functional studies. Analysis of the coding regions of CTBP2 in 462 female patients with AN (acute or recovered), 490 children and adolescents with severe obesity, 445 healthy-lean adult individuals and 168 healthy adult individuals with normal body weight detected 24 variants located in the specific exon of RIBEYE. In the initial analysis, three of these were rare non-synonymous va"],"journal":["Molecular psychiatry"],"pubmed_title":["Genetic and functional analyses of CTBP2 in anorexia nervosa and body weight regulation."],"pmcid":["PMC12014503"],"funding_grant_id":["SFB894 (TP A7)","101044445","Schm 797/8-1","01GS0820","TRR152","TRR296","HI 865/2-1","01KR1207B","01GV0624","SFB1132"],"pubmed_authors":["May C","Focker M","Hinney A","de Zwaan M","Marcus K","Schmitz F","Mukherjee A","Giel K","Keyvani K","Brandt M","Giuranna J","Ehrlich S","Peters T","Muller TD","Jall S","Renner S","Seitz J","Zipfel S","Rajcsanyi LS","Zheng Y","Herpertz-Dahlmann B","Shankhwar S","Herzog W","Burghardt R","Kurapati NK","Egberts K"],"additional_accession":[]},"is_claimable":false,"name":"Genetic and functional analyses of CTBP2 in anorexia nervosa and body weight regulation.","description":"The C-terminal binding protein 2 (CTBP2) gene (translational isoforms: CTBP2-L/S, RIBEYE) had been identified by a cross-trait analysis of genome-wide association studies for anorexia nervosa (AN) and body mass index (BMI). Here, we did a mutation analysis in CTBP2 by performing polymerase chain reactions with subsequent Sanger-sequencing to identify variants relevant for AN and body weight regulation and ensued functional studies. Analysis of the coding regions of CTBP2 in 462 female patients with AN (acute or recovered), 490 children and adolescents with severe obesity, 445 healthy-lean adult individuals and 168 healthy adult individuals with normal body weight detected 24 variants located in the specific exon of RIBEYE. In the initial analysis, three of these were rare non-synonymous va","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-06-02T04:14:56.652Z","creation":"2025-07-03T03:04:50.702Z"},"accession":"S-EPMC12014503","cross_references":{"pubmed":["39511451"],"doi":["10.1038/s41380-024-02791-3"]}}