Publications by authors named "M M Iles"
Routine use of genetic data in healthcare is much-discussed, yet little is known about its performance in epidemiological models including traditional risk factors. Using severe COVID-19 as an exemplar, we explore the integration of polygenic risk scores (PRS) into disease models alongside sociodemographic and clinical variables. PRS were optimized for 23 clinical variables and related traits previously-associated with severe COVID-19 in up to 450,449 UK Biobank participants, and tested in 9,560 individuals diagnosed in the pre-vaccination era.
View Article and Find Full Text PDFGenome-wide association studies (GWAS) of melanoma risk have identified 68 independent signals at 54 loci. For most loci, specific functional variants and their respective target genes remain to be established. Capture-HiC is an assay that links fine-mapped risk variants to candidate target genes by comprehensively mapping cell-type specific chromatin interactions.
View Article and Find Full Text PDFArticle Synopsis
- Recent genome-wide association studies (GWASs) have discovered various single nucleotide polymorphisms (SNPs) that individually have a minimal impact on melanoma risk, but when combined, they can significantly improve predictions through a polygenic risk score (PRS).
- Researchers genotyped 270 melanoma patients who had negative genetic tests for high/medium-penetrance genes to develop a PRS model based on 57 SNPs, revealing a substantially higher average PRS in melanoma cases compared to controls.
- The study found that the mean PRS was notably higher for patients with multiple primary melanoma compared to those with a single case, indicating that the PRS could help identify high-risk individuals for more intensive monitoring.
Article Synopsis
- This project analyzed if cranial ischaemic complications in giant cell arteritis (GCA) patients were linked to existing cardiovascular (CV) risk factors, CV diseases, or genetic predispositions.
- The study examined data from 1946 GCA patients, finding that 17% had cranial ischaemic issues, with significant factors including age (especially those ≥80) and hypertension, while anticoagulant therapy seemed to reduce risk.
- The research indicated potential genetic factors affecting CV-related traits and suggested that immune and coagulation pathways may play a role in these complications, warranting further investigation before applying findings to clinical settings.
Background: Infectious diseases are a major cause of mortality in spite of existing public health, anti-microbial and vaccine interventions. We aimed to define plasma proteomic associates of infection mortality and then apply Mendelian randomisation (MR) to yield biomarkers that may be causally associated.
Methods: We used UK Biobank plasma proteomic data to associate 2923 plasma proteins with infection mortality before 31st December 2019 (240 events in 52,520 participants).