Subgrouping patients with ischemic heart disease by means of the Markov cluster algorithm.

Background: Ischemic heart disease (IHD) is heterogeneous with respect to onset, burden of symptoms, and disease progression. We hypothesized that unsupervised clustering analysis could facilitate identification of distinct and clinically relevant multimorbidity clusters.

Methods: We included IHD patients who underwent coronary angiography (CAG) or coronary computed tomography angiography (CCTA) between 2004 and 2016 and used the earliest procedure as the index date.

Genome-wide associations spanning 194 in-hospital drug dosage change phenotypes highlight diverse genetic backgrounds in concurrent drug therapy.

As populations get older and medicine consumption rises, the rate of concurrent drug use and polypharmacy among patients is increasing. Polypharmacy is known to complicate therapy and increase the risk of drug-drug interactions, the individuality of which remain largely unexplored. Here, we perform a series of genome-wide association studies to identify variants associated with dosage changes during episodes of concurrent drug therapy.

Genomics of chronic dry cough unravels neurological pathways.

Background: Chronic dry cough is a symptom of common lung conditions, occurs as a side effect of ACE inhibitors (ACEis), or may be unexplained. Despite chronic dry cough representing a substantial health burden, its biological mechanisms remain unclear. We hypothesised shared genetic architecture between chronic dry cough and ACEi-induced cough and aimed to identify causal genes underlying both phenotypes.

Cohort profile: Copenhagen Hospital Biobank-chronic inflammatory disease-inflammatory bowel disease (CHB-CID:IBD) genetic cohort.

The Copenhagen Hospital Biobank-chronic inflammatory disease-inflammatory bowel disease (CHB-CID: IBD) cohort contributes to genetic research in inflammatory bowel disease, including Crohn's disease and ulcerative colitis. Of the 327,084 enrolled and genotyped individuals in the cohort, 10,626 have been diagnosed with IBD as of May 2023. The CHB-CID: IBD cohort includes both patients without IBD and healthy blood donors as control groups.

Genome-wide association study of long COVID.

Infections can lead to persistent symptoms and diseases such as shingles after varicella zoster or rheumatic fever after streptococcal infections. Similarly, severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection can result in long coronavirus disease (COVID), typically manifesting as fatigue, pulmonary symptoms and cognitive dysfunction. The biological mechanisms behind long COVID remain unclear.

Characterization of small extracellular vesicles from ovarian cancer patients and pre-diagnostic patient samples: Evidence from the Danish blood donor study.

Aim: Ovarian cancer (OC) is the leading cause of gynecological cancer deaths. Current biomarkers of OC are not specific or sensitive enough. Extracellular vesicles (EVs), EV surface proteins and their cargo microRNA (miRNA) show potential as biomarkers.

Impact of Staphylococcus aureus colonization and skin abscesses on formation of human anti-αGal antibodies.

IgG antibodies against terminal galactose-α-1,3-galactose (anti-αGal antibodies) are naturally occurring in humans, but their origins remain poorly understood. These antibodies target various microorganisms including Staphylococcus aureus, a common nasal commensal and the major cause of skin abscesses. This study investigates the impact of S.

A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.

Background: The contributions of genetic and environmental risk factors to hidradenitis suppurativa (HS) are both poorly understood.

Objective: To identify sequence variants that associate with HS and determine the contribution of environmental risk factors and inflammatory diseases to HS pathogenesis.

Methods: A genome-wide association meta-analysis of 4814 HS cases (Denmark: 1977; Iceland: 1266; Finland: 800; UK: 569; and US: 202) and 1.

No association between migraine and HLA alleles in a cohort of 13,210 individuals with migraine from the Danish Blood Donor Study.

Objective: To determine the association between human leukocyte antigen (HLA) alleles and migraine, migraine subtypes, and sex-specific factors.

Background: It has long been hypothesized that inflammation contributes to migraine pathophysiology. This study examined the association between migraine and alleles in the HLA system, a key player in immune response and genetic diversity.

Developmental language disorder - heritability and genetic correlations with other disorders affecting language.

Developmental language disorder (DLD) is a neurodevelopmental disorder primarily affecting language in the absence of a known biomedical condition, which may have a large impact on a person's life and mental health. Family-based studies indicate a strong genetic component in DLD, but genetic studies of DLD are scarce. In this study we estimated the heritability of DLD and its genetic correlations with related disorders and traits in sample of >25,000 individuals from the Danish Blood Donor Study for whom we had both genotype data and questionnaire data on language disorder and language support.

Sex and Population-Specific 99th Percentiles of Troponin for Myocardial Infarction in the Danish Population (DANSPOT).

Background: Sex- and population-specific 99th percentiles of high-sensitivity cardiac troponin (hs-cTn) are recommended in guidelines although the evidence for a clinical utility is sparse. The DANSPOT trial will investigate the clinical effect of sex- and population-specific 99th percentiles of cTn. We report the 99th percentiles derived from this trial and their dependency on kidney function.

Uncovering the heritable components of multimorbidities and disease trajectories using a nationwide cohort.

Quantifying the contribution of genetics and environmental effects on disease initiation and progression, as well as the shared genetics of different diseases, is vital for the understanding of the disease etiology of multimorbidities. In this study, we leverage nationwide Danish registries to provide a granular atlas of the genetic origin of disease phenotypes for a cohort of all Danes 1978-2018 with partially known pedigree (n = 6.3 million).

Validity of the Systemizer Profile Questionnaire: A New Tool to Identify Cognitive, Mentalizing, Sensory, Social, and Systemizing Abilities in Adults with Autism-Spectrum-Disorders With and Without Comorbid ADHD.

Purpose: Systemizer Profile Questionnaire (SPQ), which has not been used before, investigates difficulties in mentalisation, sensory- and/or social sensitivity and social cognition (MSSSC) in subjects with Autism-Spectrum-Disorders (ASD) with and without Attention-Deficit-Hyperactivity-Disorder (ADHD). The aim of this study was to evaluate the reliability and validity of the SPQ domains, and to assess the predictive validity of the SPQ against the Ritvo Autism Asperger Diagnostic Scale (RAADS).

Methods: Three-hundred-fifty-four study subjects with ICD-10 verified ASD confirmed by RAADS and 354 controls matched on age group and gender were recruited and evaluated systematically with SPQ, standardized questions about demographic and clinical data.

Longitudinal metabolite and protein trajectories prior to diabetes mellitus diagnosis in Danish blood donors: a nested case-control study.

Aims/hypothesis: Metabolic risk factors and plasma biomarkers for diabetes have previously been shown to change prior to a clinical diabetes diagnosis. However, these markers only cover a small subset of molecular biomarkers linked to the disease. In this study, we aimed to profile a more comprehensive set of molecular biomarkers and explore their temporal association with incident diabetes.

Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.

Two-thirds of all human conceptions are lost, in most cases before clinical detection. The lack of detailed understanding of the causes of pregnancy losses constrains focused counseling for future pregnancies. We have previously shown that a missense variant in synaptonemal complex central element protein 2 (SYCE2), in a key residue for the assembly of the synaptonemal complex backbone, associates with recombination traits.

A genome-wide association study of social trust in 33,882 Danish blood donors.

Social trust is a heritable trait that has been linked with physical health and longevity. In this study, we performed genome-wide association studies of self-reported social trust in n = 33,882 Danish blood donors. We observed genome-wide and local evidence of genetic similarity with other brain-related phenotypes and estimated the single nucleotide polymorphism-based heritability of trust to be 6% (95% confidence interval = (2.

COVID-19 illness severity and 2-year prevalence of physical symptoms: an observational study in Iceland, Sweden, Norway and Denmark.

Background: Although the persistence of physical symptoms after SARS-CoV-2 infection is a major public health concern, evidence from large observational studies beyond one year post diagnosis remain scarce. We aimed to assess the prevalence of physical symptoms in relation to acute illness severity up to more than 2-years after diagnosis of COVID-19.

Methods: This multinational study included 64,880 adult participants from Iceland, Sweden, Denmark, and Norway with self-reported data on COVID-19 and physical symptoms from April 2020 to August 2022.

An atlas of genetic determinants of forearm fracture.

Osteoporotic fracture is among the most common and costly of diseases. While reasonably heritable, its genetic determinants have remained elusive. Forearm fractures are the most common clinically recognized osteoporotic fractures with a relatively high heritability.

suPARnostic: an advanced predictive tool for detecting recurrence in renal cell carcinoma.

Background: Plasma soluble urokinase-type Plasminogen Activator Receptor (suPAR) predicts disease aggressiveness in renal cell carcinoma (ccRCC), but its prognostic accuracy has not been investigated. To investigate the prognostic accuracy of preoperative plasma suPAR in patients who received curative treatment for initially localized ccRCC.

Methods: We retrospectively analyzed plasma samples stored in the Danish National Biobank between 2010 and 2015 from 235 patients with ccRCC at any stage.

Circulating microRNAs for Early Diagnosis of Ovarian Cancer: A Systematic Review and Meta-Analysis.

In this study, we conducted a systematic review and meta-analysis to summarize and evaluate the global research potential of different circulating miRNAs as an early diagnostic biomarker for OC. A systematic literature search for relevant studies was conducted in June 2020 and followed up in November 2021. The search was conducted in English databases (PubMed, ScienceDirect).

Deep integrative models for large-scale human genomics.

Polygenic risk scores (PRSs) are expected to play a critical role in precision medicine. Currently, PRS predictors are generally based on linear models using summary statistics, and more recently individual-level data. However, these predictors mainly capture additive relationships and are limited in data modalities they can use.