Publications by authors named "Emil Vincent Rosenbaum Appel"
Article Synopsis
- The study investigated the relationship between risk factors, family history of coronary artery disease (CAD), and genetic variants related to CAD and LDL cholesterol levels in patients needing revascularization.
- In a sample of 1599 patients, a significant family history of CAD correlated with an earlier need for revascularization by about 3.2 years, yet genetic risk scores for CAD and LDL-C were similar between those with and without familial CAD.
- Results suggested that younger CAD patients had a slightly higher genetic burden for LDL cholesterol-related SNPs, but the overall differences were modest, indicating limited effectiveness of current genetic screening for predicting CAD outcomes.
Objective: This study aimed to investigate the effect of a genetic risk score (GRS) comprising 15 single-nucleotide polymorphisms, previously shown to associate with childhood BMI, on the baseline cardiometabolic traits and the response to a lifestyle intervention in Danish children and adolescents.
Methods: Children and adolescents with overweight or obesity (n = 920) and a population-based control sample (n = 698) were recruited. Anthropometric and biochemical measures were obtained at baseline and in a subgroup of children and adolescents with overweight or obesity again after 6 to 24 months of lifestyle intervention (n = 754).
While genome-wide association studies have been very successful in identifying associations of common genetic variants with many different traits, the rarer frequency spectrum of the genome has not yet been comprehensively explored. Technological developments increasingly lift restrictions to access rare genetic variation. Dense reference panels enable improved genotype imputation for rarer variants in studies using DNA microarrays.
View Article and Find Full Text PDFBackground: Hypothyroidism is associated with obesity, and thyroid hormones are involved in the regulation of body composition, including fat mass. Genome-wide association studies (GWAS) in adults have identified 19 and 6 loci associated with plasma concentrations of thyroid stimulating hormone (TSH) and free thyroxine (fT4), respectively.
Objective: This study aimed to identify and characterize genetic variants associated with circulating TSH and fT4 in Danish children and adolescents and to examine whether these variants associate with obesity.
Objectives: A trans-ethnic meta-analysis of type 2 diabetes genome-wide association studies has identified seven novel susceptibility variants in or near TMEM154, SSR1/RREB1, FAF1, POU5F1/TCF19, LPP, ARL15 and ABCB9/MPHOSPH9. The aim of our study was to investigate associations between these novel risk variants and type 2 diabetes and pre-diabetic traits in a Danish population-based study with measurements of plasma glucose and serum insulin after an oral glucose tolerance test in order to elaborate on the physiological impact of the variants.
Methods: Case-control analyses were performed in up to 5,777 patients with type 2 diabetes and 7,956 individuals with normal fasting glucose levels.