---
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@
...