Publications by authors named "Heilmann-Heimbach S"
Male-pattern hair loss (MPHL) is the most common form of hair loss in humans. Limited treatment options exist, which are not curative and vary in efficacy and invasiveness. Therapeutic and cosmetic hair growth stimulating agents that alleviate hair loss at a low risk of side effects are therefore of interest.
View Article and Find Full Text PDFUnicellular green algae of the genus Coccomyxa are recognized for their worldwide distribution and ecological versatility. Coccomyxa elongata is a freshwater species of the Coccomyxa simplex clade, which also includes lichen symbionts. To facilitate future molecular and phylogenomic studies of this versatile clade of algae, we generated a high-quality genome assembly for Coccomyxa elongata Chodat & Jaag SAG 216-3b within the framework of the Biodiversity Genomics Center Cologne (BioC2) initiative.
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- A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
- The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
- While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
Contribution of Rare and Potentially Functionally Relevant Sequence Variants in Schizophrenia Risk-Locus Xq28,distal.
Am J Med Genet B Neuropsychiatr Genet
October 2024
Article Synopsis
- Duplications of a specific region on the X chromosome known as Xq28,distal have been linked to schizophrenia (SCZ) and intellectual disability in both males and females, though the exact genes involved remain unclear.
- This study aimed to explore rare genetic variants in the Xq28,distal locus and how they might contribute to SCZ risk, using advanced sequencing methods on a large sample of patients and controls.
- Despite identifying some potentially functional variants, the analysis did not find a significant difference between patients with SCZ and controls, suggesting that more research is needed to understand the role of X-chromosomal factors in neuropsychiatric disorders.
Resilience is the capacity to adapt to stressful life events. As such, this trait is associated with physical and mental functions and conditions. Here, we aimed to identify the genetic factors contributing to shape resilience.
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- The study investigated whether polygenic scores (PGS) related to Major Depressive Disorder (MDD) and antidepressant treatment response (ADR) can predict how patients respond to antidepressants in a specific trial cohort.
- It included 481 MDD patients undergoing treatment over eight weeks, but while PGS for MDD was linked to higher genetic risk in patients compared to controls, it did not predict treatment outcomes like remission or response.
- The findings suggest a genetic component to MDD, but limitations like treatment variability and sample size indicate that more focused research is necessary to understand the genetic factors influencing antidepressant response.
Article Synopsis
- * A genome-wide association meta-analysis of nearly 122,000 ANX cases revealed 58 significant genetic variants and 66 related genes, with many of these findings replicated in a larger independent sample.
- * The findings indicate a substantial genetic overlap between ANX and other conditions like depression, emphasizing GABAergic signaling as a key mechanism, thereby enhancing our understanding of the genetic basis of ANX for future research.
Meta-analysis of ACE inhibitor-induced angioedema identifies novel risk locus.
J Allergy Clin Immunol
April 2024
Article Synopsis
- Angioedema is a serious reaction linked to ACE inhibitors, and its causes include genetic and non-genetic factors; recent studies have begun to uncover genetic risk factors but not the full underlying mechanisms.!* -
- Researchers analyzed data from over 1,000 European patients, discovering three significant genetic risk loci associated with ACEi-induced angioedema, one of which has not been previously noted.!* -
- The findings underscored the role of bradykinin signaling and coagulation pathways while suggesting new genetic candidates involved in angioedema, highlighting similar genetic effects in both European and African-American patients.!*
Rationale: In bipolar disorder (BD), immunological factors play a role in the pathogenesis and treatment of the illness. Studies showed the potential link between Abelson Helper Integration Site 1 (AHI1) protein, behavioural changes and innate immunity regulation. An immunomodulatory effect was suggested for lithium, a mood stabilizer used in BD treatment.
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- The study conducted the first genome-wide association study (GWAS) on sporadic Alzheimer's disease (AD) using a sample from Argentina and Chile, involving 539 patients and 854 controls.
- Combining their findings with data from the European Alzheimer and Dementia Biobank (EADB), researchers identified apolipoprotein E ε4 as a significant genetic risk factor and discovered four new loci linked to AD.
- The research highlights the shared genetic factors affecting AD risk across different populations, while also noting that a genetic risk score (GRS) showed diminishing effectiveness with increasing Native American ancestry.
Article Synopsis
- - Male-pattern hair loss (MPHL) is common and inherited, and while previous studies mostly focused on common genetic variants, the role of rare variants was less understood.
- - Research using data from 72,469 men in the UK Biobank found that rare variants have a small overall impact on MPHL risk, but identified five significant gene associations, including previously known genes (like EDA2R, WNT10A) and new ones (HEPH, CEPT1, EIF3F).
- - The study suggests that genes linked to MPHL share connections with genes causing monogenic hair disorders, expanding our understanding of both MPHL genetics and related conditions.
Background: Short anagen hair (SAH) is a rare paediatric hair disorder characterized by a short anagen phase, an inability to grow long scalp hair and a negative psychological impact. The genetic basis of SAH is currently unknown.
Objectives: To perform molecular genetic investigations in 48 individuals with a clinical phenotype suggestive of SAH to identify, if any, the genetic basis of this condition.
Article Synopsis
- Scientists studied over 176,000 people to see how certain genes might protect against Parkinson's disease (PD) and Alzheimer's disease (AD).
- They found that specific types of a gene called HLA could help reduce the risk of these diseases and lower harmful proteins in the brain.
- This suggests that our immune system might help protect us from PD and AD, which could lead to new treatments in the future.
Objective: The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights.
Methods: A total of 4,777 cases (3,348 men and 1,429 women) with clinically diagnosed cluster headache were recruited from 10 European and 1 East Asian cohorts. We first performed an inverse-variance genomewide association meta-analysis of 4,043 cases and 21,729 controls of European ancestry.
Article Synopsis
- An estimated 40% of dementia cases might be preventable by altering 12 specific risk factors throughout a person's life, although there's insufficient evidence for many of them.
- The study aims to identify causal relationships between modifiable risk factors for Alzheimer’s disease (AD) to encourage new treatment options and better prevention strategies.
- Researchers analyzed data from over 39,000 AD patients and 401,000 controls, finding that higher genetically determined levels of HDL cholesterol and systolic blood pressure were linked to an increased risk of developing AD.
Male-pattern hair loss (MPHL) is a highly heritable and prevalent condition that is characterized by progressive hair loss from the frontotemporal and vertex scalp. This androgen-dependent hair loss may commence during puberty, and up to 80 % of European men experience some degree of MPHL during their lifetime. Current treatment options for MPHL have limited efficacy, and improved understanding of the underlying biological causes is required to facilitate novel therapeutic approaches.
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- Researchers developed a polygenic risk score (PRSAβ42) to assess the likelihood of Alzheimer’s disease (AD) and amnestic mild cognitive impairment (aMCI), while also exploring how cognitive reserve (CR), measured by years of education, affects this risk.
- In a study involving 618 cognitively normal individuals over an average of nearly 3 years, they used COX models to analyze the relationship between PRSAβ42, CR, and the incidence of AD/aMCI.
- Findings indicated that higher PRSAβ42 correlated with increased risk of AD/aMCI, while greater CR was associated with reduced risk, highlighting a significant interaction where high CR offered substantial protection against AD/aMCI particularly among
Article Synopsis
- Numerous studies highlight the significance of the IL-6 pathway in the development of frailty, yet the direct causal relationship remains unclear.
- This research utilized genetic variants linked to decreased IL-6 signaling as proxies to study their impact on frailty in 11,171 participants from the HELIAD study.
- Findings suggest that lower IL-6 signaling genetically corresponds to a reduced risk of frailty, indicating a potential causal role of IL-6 in the condition.
Article Synopsis
- mLOY (mosaic loss of chromosome Y) is linked to aging and has associations with Alzheimer's disease (AD), but its influence can be misinterpreted due to age factors in studies.
- Using Mendelian randomization, researchers created a polygenic risk score (mloy-PRS) that accounts for age, revealing a significant increase in mLOY risk that is independent of age.
- Results indicate that higher genetic risk for mLOY correlates with quicker AD progression in men with mild cognitive impairment, while showing no impact on women, and suggesting mLOY plays a role in the development of AD.
Article Synopsis
- Major depressive disorder (MDD), bipolar disorder (BD), and schizophrenia spectrum disorders (SZ) share genetic and phenotypic characteristics, but the exact genetic influences on their overlapping symptoms are not well understood.
- This study analyzed genetic contributions to specific symptom dimensions in a large sample of patients with MDD, BD, or SZ, revealing some associations between polygenic risk scores (PRS) and symptoms like "Positive formal thought disorder" and "Paranoid-hallucinatory syndrome."
- However, no significant genetic associations were found for MDD, and the overall findings suggest that these psychiatric symptoms may be influenced by polygenic factors, though further research with larger samples is needed to clarify the genetic underpinnings.
The diagnostic criteria for schizophrenia (SCZ) and bipolar disorder (BD) are based on clinical assessments of symptoms. In this pilot study, we applied high-throughput antibody-based protein profiling to serum samples of healthy controls and individuals with SCZ and BD with the aim of identifying differentially expressed proteins in these disorders. Moreover, we explored the influence of polygenic burden for SCZ and BD on the serum levels of these proteins.
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- New genetic prediction models for male pattern baldness (MPB) were developed using a large set of markers from a study of over 187,000 European males, improving upon past models that faced limitations.
- These models incorporate 117 SNP predictors from a pool of previously identified MPB-related SNPs, resulting in strong prediction accuracies measured by AUC values across varying degrees of hair loss.
- The models demonstrated enhanced reliability with external validation, showing particularly strong prediction for early-onset MPB, making them the most accurate available for predicting MPB and similar traits.
Article Synopsis
- - Anorectal malformations (ARM) are rare developmental issues linked to problems in the embryonic hindgut, often associated with genetic syndromes or other congenital anomalies; about 60% of cases fall into this category.
- - The study is the largest of its kind, examining the role of copy number variations (CNVs) in ARM by comparing 450 affected individuals with 4,392 healthy controls, using advanced genetic analysis techniques.
- - Four microscopic chromosomal anomalies and nine submicroscopic CNVs were found, suggesting potential candidate genes (FOXK2, LPP, and SALL3) involved in ARM development, indicating that further research and gene analysis are needed.