Nick R. G. Shrine

This paper identifies genetic variants and genes associated with foveal hypoplasia using GWAS and multi-omics data, and establishes a zebrafish model to study the condition.

This paper identifies novel associations between multiallelic copy number variations and disease traits using UK Biobank data, highlighting potential causal variants and 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 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 123 genome-wide significant loci associated with foveal pit depth, revealing new biological pathways and genes involved in human foveal development.

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.

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

This study performs a multi-ancestry GWAS on lung function and COPD, identifying 559 genes and 29 pathways, and showing genetic risk scores are associated with COPD across ancestries.

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

This study identifies genetic variants associated with smoking initiation and cessation in men of African ancestry, highlighting underrepresented populations in genetic research.

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.

This study identifies eight novel genetic signals associated with asthma-COPD overlap through a genome-wide association analysis involving multiple cohorts.

This study investigates whether smoking modifies the effect of a polygenic risk score on reduced lung function, finding significant gene-by-smoking interactions in FEV1/FVC.

This study identifies genetic loci associated with SARS-CoV-2 susceptibility and disease severity using GWAS and colocalization, and links them to eQTLs in various tissues.

This study investigates the pleiotropic effects of SERPINA1 Z allele heterozygosity on various phenotypes using UK Biobank data, finding associations with height, gall bladder disease, heart disease, and lung function.

The paper identifies SNPs with sex-specific effects on lung function traits using UK Biobank data, finding a significant interaction at rs7697189 near HHIP.

This study expands the genetic landscape of COPD by identifying 82 risk loci, revealing associations with lung function, cell types, and comorbidities.

The paper identifies 279 new genetic signals for lung function across multiple ancestries, showing associations with COPD and pleiotropic effects.

The paper investigates the CCL3L1-CCR5 axis in lung function using genetic data, finding no association between CCL3L1 copy number or CCR5del32 genotype and lung function.

This study identifies 6 new blood pressure loci and 48 genes involved in BP regulation using GWAS and gene expression data from blood and kidney tissues.