--- res: bibo_abstract: - AbstractGenetic factors are relevant for both eating disorders and body weight regulation. A recent genome-wide association study (GWAS) for anorexia nervosa (AN) detected eight genome-wide significant chromosomal loci. One of these loci, rs10747478, was also genome-wide and significantly associated with body mass index (BMI). The nearest coding gene is the Polypyrimidine Tract Binding Protein 2 gene (PTBP2). To detect mutations in PTBP2, Sanger sequencing of the coding region was performed in 192 female patients with AN (acute or recovered) and 191 children or adolescents with (extreme) obesity. Twenty-five variants were identified. Twenty-three of these were predicted to be pathogenic or functionally relevant in at least one in silico tool. Two novel synonymous variants (p.Ala77Ala and p.Asp195Asp), one intronic SNP (rs188987764), and the intronic deletion (rs561340981) located in the highly conserved region of PTBP2 may have functional consequences. Ten of 20 genes interacting with PTBP2 were studied for their impact on body weight regulation based on either previous functional studies or GWAS hits for body weight or BMI. In a GWAS for BMI (Pulit et al. 2018), the number of genome-wide significant associations at the PTBP2 locus was different between males (60 variants) and females (two variants, one of these also significant in males). More than 65% of these 61 variants showed differences in the effect size pertaining to BMI between sexes (absolute value of Z-score >2, two-sided p < 0.05). One LD block overlapping 5′UTR and all coding regions of PTBP2 comprises 56 significant variants in males. The analysis based on sex-stratified BMI GWAS summary statistics implies that PTBP2 may have a more pronounced effect on body weight regulation in males than in females.@eng bibo_authorlist: - foaf_Person: foaf_givenName: Yiran foaf_name: Zheng, Yiran foaf_surname: Zheng - foaf_Person: foaf_givenName: Luisa Sophie foaf_name: Rajcsanyi, Luisa Sophie foaf_surname: Rajcsanyi - foaf_Person: foaf_givenName: Beate foaf_name: Herpertz-Dahlmann, Beate foaf_surname: Herpertz-Dahlmann - foaf_Person: foaf_givenName: Jochen foaf_name: Seitz, Jochen foaf_surname: Seitz - foaf_Person: foaf_givenName: Martina foaf_name: de Zwaan, Martina foaf_surname: de Zwaan - foaf_Person: foaf_givenName: Wolfgang foaf_name: Herzog, Wolfgang foaf_surname: Herzog - foaf_Person: foaf_givenName: Stefan foaf_name: Ehrlich, Stefan foaf_surname: Ehrlich - foaf_Person: foaf_givenName: Stephan foaf_name: Zipfel, Stephan foaf_surname: Zipfel - foaf_Person: foaf_givenName: Katrin foaf_name: Giel, Katrin foaf_surname: Giel - foaf_Person: foaf_givenName: Karin foaf_name: Egberts, Karin foaf_surname: Egberts - foaf_Person: foaf_givenName: Roland foaf_name: Burghardt, Roland foaf_surname: Burghardt - foaf_Person: foaf_givenName: Manuel foaf_name: Föcker, Manuel foaf_surname: Föcker - foaf_Person: foaf_givenName: Saad foaf_name: Al-Lahham, Saad foaf_surname: Al-Lahham - foaf_Person: foaf_givenName: Triinu foaf_name: Peters, Triinu foaf_surname: Peters - foaf_Person: foaf_givenName: Lars foaf_name: Libuda, Lars foaf_surname: Libuda foaf_workInfoHomepage: http://www.librecat.org/personId=88682 orcid: 0000-0003-1603-3133 - foaf_Person: foaf_givenName: Jochen foaf_name: Antel, Jochen foaf_surname: Antel - foaf_Person: foaf_givenName: Johannes foaf_name: Hebebrand, Johannes foaf_surname: Hebebrand - foaf_Person: foaf_givenName: Anke foaf_name: Hinney, Anke foaf_surname: Hinney bibo_doi: 10.1038/s41398-022-02018-5 bibo_issue: '1' bibo_volume: 12 dct_date: 2022^xs_gYear dct_isPartOf: - http://id.crossref.org/issn/2158-3188 dct_language: eng dct_publisher: Springer Science and Business Media LLC@ dct_subject: - Biological Psychiatry - Cellular and Molecular Neuroscience - Psychiatry and Mental health dct_title: PTBP2 – a gene with relevance for both Anorexia nervosa and body weight regulation@ ...