Publications by authors named "Erin MacDonald-Dunlop"
Background: Takayasu arteritis (TAK) and giant cell arteritis (GCA), the most common forms of large-vessel vasculitis (LVV), can result in serious morbidity. Understanding the molecular basis of LVV should aid in developing better biomarkers and treatments.
Methods: Plasma proteomic profiling of 184 proteins was performed in two cohorts.
Article Synopsis
- - This study conducted a genome-wide association analysis on metabolic traits in over 136,000 participants, revealing over 400 genetic loci that influence human metabolism and complex diseases.
- - Researchers used advanced techniques like nuclear magnetic resonance spectroscopy to link specific genetic variants with how they affect lipoprotein metabolism and other metabolic processes.
- - The findings highlight the genetic connections between metabolism and conditions such as hypertension, providing valuable data for further research on metabolic-related diseases.
Circulating proteins have important functions in inflammation and a broad range of diseases. To identify genetic influences on inflammation-related proteins, we conducted a genome-wide protein quantitative trait locus (pQTL) study of 91 plasma proteins measured using the Olink Target platform in 14,824 participants. We identified 180 pQTLs (59 cis, 121 trans).
View Article and Find Full Text PDFArticle Synopsis
- Human plasma proteins are crucial as clinical biomarkers and potential drug targets, and studying their genetic variants can help us understand their abundance.
- The study conducted a meta-analysis across nearly 23,000 individuals to identify genetic variants associated with 92 plasma proteins linked to cardiometabolic conditions, discovering 503 significant variants.
- Notably, sex differences were observed in 23.5% of the identified variants, and further analysis suggested causal links between certain proteins and various health traits, providing insight into their roles in cardiometabolic diseases.
Article Synopsis
- SARS-CoV-2 uses the ACE2 protein to enter human cells, making ACE2 crucial for COVID-19 infection and treatment; its levels vary significantly across different individuals but are not fully understood genetically.
- In a large study involving over 28,000 individuals, researchers found genetic factors influencing plasma ACE2 levels and discovered 10 genetic loci linked to ACE2, explaining 30% of its heritability.
- The study also indicated that higher ACE2 levels are causally associated with increased severity of COVID-19, hospitalization, and risk of infection, along with genetic links to vascular diseases and other complex health conditions.
Biological age (BA), a measure of functional capacity and prognostic of health outcomes that discriminates between individuals of the same chronological age (chronAge), has been estimated using a variety of biomarkers. Previous comparative studies have mainly used epigenetic models (clocks), we use ~1000 participants to compare fifteen omics ageing clocks, with correlations of 0.21-0.
View Article and Find Full Text PDFSevere COVID-19 is characterised by immunopathology and epithelial injury. Proteomic studies have identified circulating proteins that are biomarkers of severe COVID-19, but cannot distinguish correlation from causation. To address this, we performed Mendelian randomisation (MR) to identify proteins that mediate severe COVID-19.
View Article and Find Full Text PDFArticle Synopsis
- Circulating proteins play a key role in human health and are used as biomarkers for disease and drug targets; this study maps protein quantitative trait loci (pQTLs) for 90 cardiovascular proteins in over 30,000 people, discovering 451 pQTLs for 85 proteins.
- The researchers verified their findings with mouse studies and clinical trials, establishing the regulatory roles of certain genes on these proteins.
- They also identified 11 proteins with potential causal links to diseases, suggesting new drug targets and opportunities for repositioning existing drugs, thus enhancing the understanding of the genetics of proteins in relation to health.
Article Synopsis
- Genome-wide association studies (GWAS) found six genes related to depressive symptoms, while genome-wide by environment interaction studies (GWEIS) identified specific SNPs linked to GxE effects related to SLE in different cohorts.
- Analyzing polygenic risk scores revealed that including GxE effects can enhance depression symptom prediction and showed potential connections between depressive symptoms and other health issues, indicating a need for further research to improve treatment options.
Rationale: One measure of protein glycosylation (GlycA) has been reported to predict higher cardiovascular risk by reflecting inflammatory pathways.
Objective: The main objective of this study is to assess the role of a comprehensive panel of IgG glycosylation traits on traditional risk factors for cardiovascular disease and on presence of subclinical atherosclerosis in addition to GlycA.
Methods And Results: We measured 76 IgG glycosylation traits in 2970 women (age range, 40-79 years) from the TwinsUK cohort and correlated it to their estimated 10-year atherosclerotic cardiovascular disease risk score and their carotid and femoral plaque measured by ultrasound imaging.