---
_id: '32326'
abstract:
- lang: eng
text: 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.
article_number: '241'
author:
- first_name: Yiran
full_name: Zheng, Yiran
last_name: Zheng
- first_name: Luisa Sophie
full_name: Rajcsanyi, Luisa Sophie
last_name: Rajcsanyi
- first_name: Beate
full_name: Herpertz-Dahlmann, Beate
last_name: Herpertz-Dahlmann
- first_name: Jochen
full_name: Seitz, Jochen
last_name: Seitz
- first_name: Martina
full_name: de Zwaan, Martina
last_name: de Zwaan
- first_name: Wolfgang
full_name: Herzog, Wolfgang
last_name: Herzog
- first_name: Stefan
full_name: Ehrlich, Stefan
last_name: Ehrlich
- first_name: Stephan
full_name: Zipfel, Stephan
last_name: Zipfel
- first_name: Katrin
full_name: Giel, Katrin
last_name: Giel
- first_name: Karin
full_name: Egberts, Karin
last_name: Egberts
- first_name: Roland
full_name: Burghardt, Roland
last_name: Burghardt
- first_name: Manuel
full_name: Föcker, Manuel
last_name: Föcker
- first_name: Saad
full_name: Al-Lahham, Saad
last_name: Al-Lahham
- first_name: Triinu
full_name: Peters, Triinu
last_name: Peters
- first_name: Lars
full_name: Libuda, Lars
id: '88682'
last_name: Libuda
orcid: 0000-0003-1603-3133
- first_name: Jochen
full_name: Antel, Jochen
last_name: Antel
- first_name: Johannes
full_name: Hebebrand, Johannes
last_name: Hebebrand
- first_name: Anke
full_name: Hinney, Anke
last_name: Hinney
citation:
ama: Zheng Y, Rajcsanyi LS, Herpertz-Dahlmann B, et al. PTBP2 – a gene with relevance
for both Anorexia nervosa and body weight regulation. Translational Psychiatry.
2022;12(1). doi:10.1038/s41398-022-02018-5
apa: Zheng, Y., Rajcsanyi, L. S., Herpertz-Dahlmann, B., Seitz, J., de Zwaan, M.,
Herzog, W., Ehrlich, S., Zipfel, S., Giel, K., Egberts, K., Burghardt, R., Föcker,
M., Al-Lahham, S., Peters, T., Libuda, L., Antel, J., Hebebrand, J., & Hinney,
A. (2022). PTBP2 – a gene with relevance for both Anorexia nervosa and body weight
regulation. Translational Psychiatry, 12(1), Article 241. https://doi.org/10.1038/s41398-022-02018-5
bibtex: '@article{Zheng_Rajcsanyi_Herpertz-Dahlmann_Seitz_de Zwaan_Herzog_Ehrlich_Zipfel_Giel_Egberts_et
al._2022, title={PTBP2 – a gene with relevance for both Anorexia nervosa and body
weight regulation}, volume={12}, DOI={10.1038/s41398-022-02018-5},
number={1241}, journal={Translational Psychiatry}, publisher={Springer Science
and Business Media LLC}, author={Zheng, Yiran and Rajcsanyi, Luisa Sophie and
Herpertz-Dahlmann, Beate and Seitz, Jochen and de Zwaan, Martina and Herzog, Wolfgang
and Ehrlich, Stefan and Zipfel, Stephan and Giel, Katrin and Egberts, Karin and
et al.}, year={2022} }'
chicago: Zheng, Yiran, Luisa Sophie Rajcsanyi, Beate Herpertz-Dahlmann, Jochen Seitz,
Martina de Zwaan, Wolfgang Herzog, Stefan Ehrlich, et al. “PTBP2 – a Gene with
Relevance for Both Anorexia Nervosa and Body Weight Regulation.” Translational
Psychiatry 12, no. 1 (2022). https://doi.org/10.1038/s41398-022-02018-5.
ieee: 'Y. Zheng et al., “PTBP2 – a gene with relevance for both Anorexia
nervosa and body weight regulation,” Translational Psychiatry, vol. 12,
no. 1, Art. no. 241, 2022, doi: 10.1038/s41398-022-02018-5.'
mla: Zheng, Yiran, et al. “PTBP2 – a Gene with Relevance for Both Anorexia Nervosa
and Body Weight Regulation.” Translational Psychiatry, vol. 12, no. 1,
241, Springer Science and Business Media LLC, 2022, doi:10.1038/s41398-022-02018-5.
short: Y. Zheng, L.S. Rajcsanyi, B. Herpertz-Dahlmann, J. Seitz, M. de Zwaan, W.
Herzog, S. Ehrlich, S. Zipfel, K. Giel, K. Egberts, R. Burghardt, M. Föcker, S.
Al-Lahham, T. Peters, L. Libuda, J. Antel, J. Hebebrand, A. Hinney, Translational
Psychiatry 12 (2022).
date_created: 2022-07-06T15:14:13Z
date_updated: 2022-10-26T15:49:24Z
department:
- _id: '35'
doi: 10.1038/s41398-022-02018-5
intvolume: ' 12'
issue: '1'
keyword:
- Biological Psychiatry
- Cellular and Molecular Neuroscience
- Psychiatry and Mental health
language:
- iso: eng
publication: Translational Psychiatry
publication_identifier:
issn:
- 2158-3188
publication_status: published
publisher: Springer Science and Business Media LLC
status: public
title: PTBP2 – a gene with relevance for both Anorexia nervosa and body weight regulation
type: journal_article
user_id: '88682'
volume: 12
year: '2022'
...
---
_id: '32327'
abstract:
- lang: eng
text: 'AbstractThere is preliminary evidence that
adrenal steroids other than cortisol may be valuable biomarkers for major depressive
disorder (MDD). So far, studies have been conducted in adults only, and conclusions
are limited, mainly due to small sample sizes. Therefore, the present study assessed
whether adrenal steroids serve as biomarkers for adolescent MDD. In 261 depressed
adolescents (170 females) treated at a single psychiatric hospital, serum adrenal
steroids (progesterone, 17-hydroxyprogesterone, 21-deoxycortisol, 11-deoxycortisol,
cortisol, cortisone, deoxycorticosterone, corticosterone) were determined by liquid
chromatography-tandem mass spectrometry. Findings were compared to that of an
age- and sex-matched reference cohort (N = 255) by
nonparametric analysis of variance. Nonparametric receiver operating characteristics
(ROC) analyses were conducted to evaluate the diagnostic performance of single
steroids and steroid ratios to classify depression status. Sensitivity analyses
considered important confounders of adrenal functioning, and ROC results were
verified by cross-validation. Compared to the reference cohort, levels of deoxycorticosterone
and 21-deoxycortisol were decreased (P < 0.001).
All other glucocorticoid- and mineralocorticoid-related steroids were increased
(P < 0.001). The corticosterone to deoxycorticosterone
ratio evidenced excellent classification characteristics, especially in females
(AUC: 0.957; sensitivity: 0.902; specificity: 0.891). The adrenal steroid metabolome
qualifies as a bio-readout reflecting adolescent MDD by a distinct steroid pattern
that indicates dysfunction of the hypothalamus–pituitary–adrenal axis. Moreover,
the corticosterone to deoxycorticosterone ratio may prospectively qualify to contribute
to precision medicine in psychiatry by identifying those patients who might benefit
from antiglucocorticoid treatment or those at risk for recurrence when adrenal
dysfunction has not resolved.'
article_number: '255'
author:
- first_name: Raphael
full_name: Hirtz, Raphael
last_name: Hirtz
- first_name: Lars
full_name: Libuda, Lars
id: '88682'
last_name: Libuda
orcid: 0000-0003-1603-3133
- first_name: Anke
full_name: Hinney, Anke
last_name: Hinney
- first_name: Manuel
full_name: Föcker, Manuel
last_name: Föcker
- first_name: Judith
full_name: Bühlmeier, Judith
id: '89838'
last_name: Bühlmeier
- first_name: Paul-Martin
full_name: Holterhus, Paul-Martin
last_name: Holterhus
- first_name: Alexandra
full_name: Kulle, Alexandra
last_name: Kulle
- first_name: Cordula
full_name: Kiewert, Cordula
last_name: Kiewert
- first_name: Berthold P.
full_name: Hauffa, Berthold P.
last_name: Hauffa
- first_name: Johannes
full_name: Hebebrand, Johannes
last_name: Hebebrand
- first_name: Corinna
full_name: Grasemann, Corinna
last_name: Grasemann
citation:
ama: 'Hirtz R, Libuda L, Hinney A, et al. The adrenal steroid profile in adolescent
depression: a valuable bio-readout? Translational Psychiatry. 2022;12(1).
doi:10.1038/s41398-022-01966-2'
apa: 'Hirtz, R., Libuda, L., Hinney, A., Föcker, M., Bühlmeier, J., Holterhus, P.-M.,
Kulle, A., Kiewert, C., Hauffa, B. P., Hebebrand, J., & Grasemann, C. (2022).
The adrenal steroid profile in adolescent depression: a valuable bio-readout?
Translational Psychiatry, 12(1), Article 255. https://doi.org/10.1038/s41398-022-01966-2'
bibtex: '@article{Hirtz_Libuda_Hinney_Föcker_Bühlmeier_Holterhus_Kulle_Kiewert_Hauffa_Hebebrand_et
al._2022, title={The adrenal steroid profile in adolescent depression: a valuable
bio-readout?}, volume={12}, DOI={10.1038/s41398-022-01966-2},
number={1255}, journal={Translational Psychiatry}, publisher={Springer Science
and Business Media LLC}, author={Hirtz, Raphael and Libuda, Lars and Hinney, Anke
and Föcker, Manuel and Bühlmeier, Judith and Holterhus, Paul-Martin and Kulle,
Alexandra and Kiewert, Cordula and Hauffa, Berthold P. and Hebebrand, Johannes
and et al.}, year={2022} }'
chicago: 'Hirtz, Raphael, Lars Libuda, Anke Hinney, Manuel Föcker, Judith Bühlmeier,
Paul-Martin Holterhus, Alexandra Kulle, et al. “The Adrenal Steroid Profile in
Adolescent Depression: A Valuable Bio-Readout?” Translational Psychiatry
12, no. 1 (2022). https://doi.org/10.1038/s41398-022-01966-2.'
ieee: 'R. Hirtz et al., “The adrenal steroid profile in adolescent depression:
a valuable bio-readout?,” Translational Psychiatry, vol. 12, no. 1, Art.
no. 255, 2022, doi: 10.1038/s41398-022-01966-2.'
mla: 'Hirtz, Raphael, et al. “The Adrenal Steroid Profile in Adolescent Depression:
A Valuable Bio-Readout?” Translational Psychiatry, vol. 12, no. 1, 255,
Springer Science and Business Media LLC, 2022, doi:10.1038/s41398-022-01966-2.'
short: R. Hirtz, L. Libuda, A. Hinney, M. Föcker, J. Bühlmeier, P.-M. Holterhus,
A. Kulle, C. Kiewert, B.P. Hauffa, J. Hebebrand, C. Grasemann, Translational Psychiatry
12 (2022).
date_created: 2022-07-06T15:14:39Z
date_updated: 2023-01-06T11:48:51Z
department:
- _id: '35'
doi: 10.1038/s41398-022-01966-2
intvolume: ' 12'
issue: '1'
keyword:
- Biological Psychiatry
- Cellular and Molecular Neuroscience
- Psychiatry and Mental health
language:
- iso: eng
publication: Translational Psychiatry
publication_identifier:
issn:
- 2158-3188
publication_status: published
publisher: Springer Science and Business Media LLC
status: public
title: 'The adrenal steroid profile in adolescent depression: a valuable bio-readout?'
type: journal_article
user_id: '88682'
volume: 12
year: '2022'
...
---
_id: '27019'
abstract:
- lang: eng
text: AbstractTo examine the hypothesis that normalization
of low circulating leptin levels in patients with anorexia nervosa ameliorates
hyperactivity, three seriously ill females with hyperactivity were treated off-label
with metreleptin (recombinant human leptin) for up to 14 days. Drive for activity,
repetitive thoughts of food, inner restlessness, and weight phobia decreased in
two patients. Surprisingly, depression improved rapidly in all patients. No serious
adverse events occurred. Due to obvious limitations of uncontrolled case series,
placebo-controlled clinical trials are mandatory to confirm the observed rapid
onset of beneficial effects. Our findings suggest an important role of hypoleptinemia
in the mental and behavioral phenotype of anorexia nervosa.
author:
- first_name: Gabriella
full_name: Milos, Gabriella
last_name: Milos
- first_name: Jochen
full_name: Antel, Jochen
last_name: Antel
- first_name: Lisa-Katrin
full_name: Kaufmann, Lisa-Katrin
last_name: Kaufmann
- first_name: Nikolaus
full_name: Barth, Nikolaus
last_name: Barth
- first_name: Antonia
full_name: Koller, Antonia
last_name: Koller
- first_name: Susanne
full_name: Tan, Susanne
last_name: Tan
- first_name: Urban
full_name: Wiesing, Urban
last_name: Wiesing
- first_name: Anke
full_name: Hinney, Anke
last_name: Hinney
- first_name: Lars
full_name: Libuda, Lars
id: '88682'
last_name: Libuda
orcid: 0000-0003-1603-3133
- first_name: Martin
full_name: Wabitsch, Martin
last_name: Wabitsch
- first_name: Roland
full_name: von Känel, Roland
last_name: von Känel
- first_name: Johannes
full_name: Hebebrand, Johannes
last_name: Hebebrand
citation:
ama: 'Milos G, Antel J, Kaufmann L-K, et al. Short-term metreleptin treatment of
patients with anorexia nervosa: rapid on-set of beneficial cognitive, emotional,
and behavioral effects. Translational Psychiatry. Published online 2020.
doi:10.1038/s41398-020-00977-1'
apa: 'Milos, G., Antel, J., Kaufmann, L.-K., Barth, N., Koller, A., Tan, S., Wiesing,
U., Hinney, A., Libuda, L., Wabitsch, M., von Känel, R., & Hebebrand, J. (2020).
Short-term metreleptin treatment of patients with anorexia nervosa: rapid on-set
of beneficial cognitive, emotional, and behavioral effects. Translational Psychiatry.
https://doi.org/10.1038/s41398-020-00977-1'
bibtex: '@article{Milos_Antel_Kaufmann_Barth_Koller_Tan_Wiesing_Hinney_Libuda_Wabitsch_et
al._2020, title={Short-term metreleptin treatment of patients with anorexia nervosa:
rapid on-set of beneficial cognitive, emotional, and behavioral effects}, DOI={10.1038/s41398-020-00977-1},
journal={Translational Psychiatry}, author={Milos, Gabriella and Antel, Jochen
and Kaufmann, Lisa-Katrin and Barth, Nikolaus and Koller, Antonia and Tan, Susanne
and Wiesing, Urban and Hinney, Anke and Libuda, Lars and Wabitsch, Martin and
et al.}, year={2020} }'
chicago: 'Milos, Gabriella, Jochen Antel, Lisa-Katrin Kaufmann, Nikolaus Barth,
Antonia Koller, Susanne Tan, Urban Wiesing, et al. “Short-Term Metreleptin Treatment
of Patients with Anorexia Nervosa: Rapid on-Set of Beneficial Cognitive, Emotional,
and Behavioral Effects.” Translational Psychiatry, 2020. https://doi.org/10.1038/s41398-020-00977-1.'
ieee: 'G. Milos et al., “Short-term metreleptin treatment of patients with
anorexia nervosa: rapid on-set of beneficial cognitive, emotional, and behavioral
effects,” Translational Psychiatry, 2020, doi: 10.1038/s41398-020-00977-1.'
mla: 'Milos, Gabriella, et al. “Short-Term Metreleptin Treatment of Patients with
Anorexia Nervosa: Rapid on-Set of Beneficial Cognitive, Emotional, and Behavioral
Effects.” Translational Psychiatry, 2020, doi:10.1038/s41398-020-00977-1.'
short: G. Milos, J. Antel, L.-K. Kaufmann, N. Barth, A. Koller, S. Tan, U. Wiesing,
A. Hinney, L. Libuda, M. Wabitsch, R. von Känel, J. Hebebrand, Translational Psychiatry
(2020).
date_created: 2021-11-01T18:58:28Z
date_updated: 2022-01-06T06:57:32Z
department:
- _id: '35'
- _id: '22'
- _id: '395'
doi: 10.1038/s41398-020-00977-1
language:
- iso: eng
publication: Translational Psychiatry
publication_identifier:
issn:
- 2158-3188
publication_status: published
status: public
title: 'Short-term metreleptin treatment of patients with anorexia nervosa: rapid
on-set of beneficial cognitive, emotional, and behavioral effects'
type: journal_article
user_id: '49428'
year: '2020'
...