Browsing Centre for Clinical Pharmacology by Subject "Genetic Predisposition to Disease"
Now showing items 1-12 of 12
-
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease.
(2017-05-26)BACKGROUND: Plasminogen activator inhibitor type 1 (PAI-1) plays an essential role in the fibrinolysis system and thrombosis. Population studies have reported that blood PAI-1 levels are associated with increased risk of ... -
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
(2018-07-05)Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for ... -
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
(2017-01-30)BACKGROUND: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated ... -
Evaluating the glucose raising effect of established loci via a genetic risk score.
(2017)Recent genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) associated with glucose levels. We tested the hypothesis here whether the cumulative effect of glucose raising SNPs, ... -
Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups.
(Springer Nature, 2023-06-02)We assess performance and limitations of polygenic risk scores (PRSs) for multiple blood pressure (BP) phenotypes in diverse population groups. We compare "clumping-and-thresholding" (PRSice2) and LD-based (LDPred2) methods ... -
Genetic Risk Score for Coronary Disease Identifies Predispositions to Cardiovascular and Noncardiovascular Diseases.
(2019-06-18)BACKGROUND: The taxonomy of cardiovascular (CV) diseases is divided into a broad spectrum of clinical entities. Many such diseases coincide in specific patient groups and suggest shared predisposition. OBJECTIVES: This ... -
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.
(2016-08)BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is ... -
Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk.
(2017)Glatiramer acetate is used therapeutically in multiple sclerosis but also known for adverse effects including elevated coronary artery disease (CAD) risk. The mechanisms underlying the cardiovascular side effects of the ... -
Incremental data integration for tracking genotype-disease associations.
(2020-01)Functional annotation of genes remains a challenge in fundamental biology and is a limiting factor for translational medicine. Computational approaches have been developed to process heterogeneous data into meaningful ... -
Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis.
(2017-07)OBJECTIVE: Osteoarthritis (OA) has a strong genetic component but the success of previous genome-wide association studies (GWAS) has been restricted due to insufficient sample sizes and phenotype heterogeneity. Our aim was ... -
Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system.
(2018-05-16)Impaired capacity to increase heart rate (HR) during exercise (ΔHRex), and a reduced rate of recovery post-exercise (ΔHRrec) are associated with higher cardiovascular mortality rates. Currently, the genetic basis of both ... -
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility.
(2021)Epidemiological and genetic studies on COVID-19 are currently hindered by inconsistent and limited testing policies to confirm SARS-CoV-2 infection. Recently, it was shown that it is possible to predict COVID-19 cases using ...