Publications by authors named "Anke Hinney"

Article Synopsis
  • The study investigated the CTBP2 gene and its relation to anorexia nervosa (AN) and body mass index (BMI) through mutation analysis, revealing 24 variants in the RIBEYE exon among various groups including patients with AN, obese children, and healthy individuals.
  • Three rare non-synonymous variants were found in AN patients, while several variants were unique to children with severe obesity, indicating potential genetic links to these conditions.
  • Functional studies showed that RIBEYE mRNA is expressed in the mouse hypothalamus and is influenced by leptin treatment, suggesting that the RIBEYE gene may play a role in body weight regulation.
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Objective: Post-operative development of restrictive eating disorders can occur in patients after bariatric surgery. In children and adolescents with anorexia nervosa (AN) or atypical AN, premorbid body mass index (BMI) has recently been shown to predict total weight loss. We hypothesized that pre-operative BMI similarly predicts weight loss and the development of a restrictive eating disorder in adult bariatric patients.

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  • Researchers studied patients with advanced skin cancer (melanoma) to see how well they responded to a special treatment called immune checkpoint inhibition (ICI).
  • They found that only about 8% of patients responded quickly to the treatment, while others had slower responses or did not respond at all.
  • Despite the quick responders showing some improvement, they didn’t live longer or have better outcomes than those who responded later to the treatment.
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  • * A systematic review collected and evaluated 23 studies on the epigenetics of AN, highlighting epigenome-wide association studies (EWASs) as promising avenues for understanding disease mechanisms and potential biomarkers.
  • * Future research should focus on larger sample sizes, longitudinal designs, and consistent methodologies to improve insights into AN's pathophysiology and enhance patient treatments and outcomes.
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  • * Using Mendelian randomization, researchers analyzed data from the UK Biobank involving nearly 400,000 participants and found no significant association between testosterone levels and ADHD risk in sex-specific analyses.
  • * In a combined analysis, there was a weak association between testosterone and ADHD, but further corrections indicated that this link could be influenced by other factors like body mass index (BMI), leading to the conclusion that there is no strong evidence supporting testosterone as a causal factor for ADHD risk.
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Mutations leading to a reduced or loss of function in genes of the leptin-melanocortin system confer a risk for monogenic forms of obesity. Yet, gain of function variants in the melanocortin-4-receptor (MC4R) gene predispose to a lower BMI. In individuals with reduced body weight, we thus expected mutations leading to an enhanced function in the respective genes, like leptin (LEP) and MC4R.

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Background: In males, the relationship between pubertal timing and depression is understudied and less consistent than in females, likely for reasons of unmeasured confounding. To clarify this relationship, a combined epidemiological and genetic approach was chosen to exploit the methodological advantages of both approaches.

Methods: Data from 2026 males from a nationwide, representative study were used to investigate the non-/linear relationship between pubertal timing defined by the age at voice break and depression, considering a multitude of potential confounders and their interactions with pubertal timing.

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Based on the recent observation that human recombinant leptin (r-Met-hu-leptin; metreleptin) may induce a profound alleviation of the complex symptomatology of patients with anorexia nervosa (AN), we examine the implications for our conceptualisation of this eating disorder. Hypoleptinemia as a core endocrine feature of AN serves as a central and peripheral trigger of tissue-specific adaptations to starvation. In this narrative review, we argue that leptin deficiency may explain many of the puzzling features of this eating disorder.

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  • Eleven genetic variants were identified through Sanger sequencing of MC3R in groups of children and adolescents with short stature, obesity, and lean individuals; notable among these were three rare loss-of-function variants only found in those with severe obesity.
  • There was a significant deviation in findings related to the p.Val44Ile variant among short stature individuals, suggesting that certain MC3R dysfunctions are connected to issues like obesity, decreased height, and delayed puberty.
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  • - Increased thermogenesis in brown fat could help combat obesity; studies in mice show that gene depletion impacting creatine metabolism affects their ability to regulate body weight when fed high-fat diets.
  • - A genome-wide study found a specific SNP (rs1136165) linked to BMI that affects females more significantly than males, with further research identifying various mutations in related genes among different groups of individuals with obesity and anorexia.
  • - Evidence suggests that certain genetic variants may protect against obesity, especially in specific types of fat tissue, and further research is required to fully understand the functional implications of these findings.
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Context: The bone-derived adipokine lipocalin-2 is relevant for body weight regulation by stimulating the leptin-melanocortin pathway.

Objective: We aimed to (i) detect variants in the lipocalin-2 gene () which are relevant for body weight regulation and/or anorexia nervosa (AN); (ii) describe and characterize the impact of and variants on circulating lipocalin-2 level.

Methods: Sanger sequencing of the coding region of in 284 children and adolescents with severe obesity or 287 patients with anorexia nervosa.

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The Research Domain Criteria (RDoC) approach seeks to understand mental functioning in continuous valid dimensions ranging from functional to pathological. Reward processing is a transdiagnostic functioning domain of the RDoC. Due to prototypical abnormalities, addictions are especially applicable for the investigation of reward processing.

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Article Synopsis
  • Anorexia nervosa (AN) is a serious eating disorder marked by extreme weight loss and an inability to recognize the severity of low body weight, often accompanied by inflammation and altered blood markers.
  • The study analyzed specific chemokine receptors (CCR4, CCR6, CXCR3, and CXCR4) in T cells of female adolescents with AN, noting increased levels before treatment and changes after 6 weeks of therapy.
  • Key findings indicate that CXCR4 expression correlates with mental health issues and serves as a predictor for body mass index and fat mass index, highlighting its potential role in AN's development.
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Homozygosity for pathogenic variants in the leptin gene leads to congenital leptin deficiency causing severe early-onset obesity. This monogenic form of obesity has mainly been detected in patients from consanguineous families. Prevalence estimates for the general population using the Exome Aggregation Consortium (ExAC) database reported a low frequency of leptin mutations.

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Context: The timing of puberty, physical features of pubertal development, and hormones are closely intertwined but may also individually contribute to the risk for depression and depression severity. Additionally, their effects on mood may depend on depression severity, but previously this has only been studied in mostly subclinical depression.

Methods: In 184 girls from a single psychiatric hospital with significant depressive symptoms (Beck Depression Inventory-II score > 13), the relationship between depression severity and age at menarche (AAM), pubertal status, and gonadal/adrenal hormones (estradiol, progesterone, DHEA-S, androstenedione, testosterone, dihydrotestosterone) was investigated.

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Article Synopsis
  • A significant number of studies have indicated a potential link between age at menarche (AAM) and depression, but these findings often show weak effects and issues with confounding factors.
  • To better understand if there's a causal relationship, researchers utilized 360 genetic variants linked to AAM and analyzed data from over 800,000 individuals, using various advanced statistical methods to address potential biases.
  • The study found a significant causal effect of earlier AAM on increased depression risk, reinforcing earlier research conclusions and highlighting the need for interventions aimed at preventing early menarche due to its negative mental health implications.
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  • Circular RNAs (circRNAs) play a role in regulating processes like adipogenesis and can be influenced by single nucleotide polymorphisms (SNPs) associated with BMI.
  • The study found that BMI-related SNPs are more commonly located in circRNA genomic regions, especially in females compared to males.
  • Further analysis showed that circRNAs are also associated with SNPs in several other health-related traits, indicating that genetic variations may influence BMI via circRNAs.
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Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended genome-wide association meta-analysis of a well-characterized cohort of 3255 COVID-19 patients with respiratory failure and 12 488 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.

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  • Researchers are looking into different adrenal steroids (hormones) to see if they can help identify major depressive disorder (MDD) in teenagers.
  • A study with 261 depressed teens found that certain adrenal steroids were lower or higher compared to teens without depression.
  • The study suggests that a specific ratio of two steroids might help doctors figure out who needs special treatments for depression.
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Genetic 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).

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There is a distinct increase in the prevalence of depression with the onset of puberty. The role of peripubertal testosterone levels in boys in this context is insufficiently understood and may be modulated by a functional polymorphism of the androgen receptor gene (AR), a variable number of CAG repeats. Moreover, there is preliminary evidence that the relationship between testosterone, CAG repeat length, and the severity of depressive symptoms may differ between subclinical and overt depression, but this has neither been studied in a clinical sample of adolescents with depression nor compared between subclinical and overt depression in an adequately powered study.

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