Louise V. Wain

This study shows that loss of PKN2 leads to fibroblast reprogramming and ECM remodelling in pulmonary fibrosis by altering key pathways and secretion.

This study identifies three novel genetic signals associated with idiopathic pulmonary fibrosis using GWAS and clinically-curated datasets, highlighting potential drug targets like MUC1 and NTN4.

This study evaluates the genetic risk variants for idiopathic pulmonary fibrosis in non-European populations, finding partial replication and ancestry-specific effects, with rs35705950 as the most consistent signal.

This study shows that polygenic risk scores improve the identification of IPF patients carrying rare variants associated with monogenic pulmonary fibrosis.

This study investigates genetic links between gut microbiome variation and idiopathic pulmonary fibrosis risk and outcomes, identifying shared signals that suggest potential causal mechanisms.

This study performs GWAS of IPF using dominant and recessive models, identifying five new genome-wide significant signals and genes, including PMF1 and EPN3, and observing increased PMF1 expression in IPF patients.

This study identifies a genetic association between thromboembolism risk and long COVID in individuals of European ancestry, suggesting thromboembolism as a potential contributor to long COVID pathogenesis.

This study identifies SLC15A4 as a susceptibility gene for IPF through genome-wide analysis of tandem repeat variation, showing its role in gene expression and disease risk.

This study identifies a genome-wide significant variant associated with sepsis-associated ARDS risk, linking cholesterol metabolism to ARDS susceptibility.

The paper investigates the effects of the ADRB2 Thr164Ile variant on lung function, plasma proteome, and other traits using UK Biobank data, finding associations with immune and lipid metabolism pathways but not COPD or asthma.

This study identifies pQTLs of sVEGFR1 levels during sepsis and links them to ARDS susceptibility and mortality using GWAS, colocalisation, and Mendelian randomisation.

The paper uses spatial multiomic profiling to identify distinct fibrotic epithelial niches in IPF, revealing a KRT5low/KRT17 epithelial population and its association with SPP1 macrophages.

This study calculates polygenic risk scores for idiopathic pulmonary fibrosis (IPF) and finds they are associated with increased risk of severe COVID-19 outcomes, particularly in younger males.

This study investigates the impact of rare variants and polygenic risk scores on survival in idiopathic pulmonary fibrosis patients, finding that rare variants are associated with worse outcomes.

This study identifies seven novel genetic loci associated with chronic dry cough and ACEi-induced cough, implicating neurological genes and highlighting potential therapeutic targets.

The paper identifies rare pathogenic variants associated with pulmonary fibrosis by analyzing whole genome sequencing data and linking them to cytoskeletal dysfunction.

This study compares STR genotyping software using clinical and population-based human genome data, finding that some tools perform better for common STRs while others excel at detecting expanded STRs.

This study identifies three genetic variants with sex-specific effects on IPF susceptibility but finds no significant difference in predictive accuracy of polygenic risk scores between males and females.

This study investigates the association between HLA genetic variants and IPF risk using a meta-analysis of seven case-control studies, finding no consistent HLA region associations.

The paper identifies shared and opposing genetic risk factors between IPF and hypertension, suggesting potential fibrotic mechanisms and therapeutic considerations.

This paper introduces a statistical framework, cWAS, to identify cell types with genetically regulated proportions associated with complex diseases using integrated genetic and transcriptomics data.

The paper identifies four novel genetic variants associated with IPF survival, including a PCSK6 variant, and suggests PCSK6 as a prognostic biomarker and therapeutic target.

DeepPheWAS creates composite phenotypes and performs association analysis for phenome-wide studies using genetic inputs and various models.

This paper conducts a genome-wide association study (GWAS) to identify genetic variants associated with 28-day survival in sepsis patients, finding three novel variants linked to reduced survival.

The paper identifies novel disease-associated genes for idiopathic pulmonary fibrosis using integrative genetic and transcriptomic analyses.

This study performs a large multi-ancestry meta-analysis of IPF genetics, identifying seven novel genome-wide significant loci and highlighting pleiotropy with severe COVID-19 and sex-heterogeneity at the MUC5B locus.

This study identifies genetic associations with ACE inhibitor-induced cough and finds shared genetic factors with chronic dry cough.

This study performs a genome-wide meta-analysis across five IPF cohorts, identifying five novel genetic loci associated with idiopathic pulmonary fibrosis.

The paper identifies two independent asthma-associated loci in the HLA region using exome-wide CNV analysis in UK Biobank, highlighting challenges with CNV detection in complex genomic regions.