Martin D. Tobin

Hypertrophic cardiomyopathy: a genome wide association meta-analysis and polygenic risk score

This paper identifies novel genetic loci for hypertrophic cardiomyopathy through GWAS and develops a polygenic risk score associated with HCM diagnosis and outcomes.

Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal development

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.

Genome-wide association study of Idiopathic Pulmonary Fibrosis susceptibility using clinically-curated European-ancestry datasets

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.

Contribution of dominant and recessive model effects to the genetic architecture of Idiopathic Pulmonary Fibrosis

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.

Genome-Wide Insights into the Genes and Pathways Shaping Human Foveal Development

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 role of the ADRB2 Thr164Ile variant in lung function determination, plasma proteome variability and other phenotypes in UK Biobank

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.

Genetic regulation of the vascular endothelial growth factor receptor 1 during sepsis and association with ARDS susceptibility

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

Genome-wide association study of varenicline-aided smoking cessation

This paper conducts a genome-wide association study to identify genetic variants associated with varenicline-aided smoking cessation using electronic health records.

Genomics of chronic cough unravels neurological pathways

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

Genome-wide SNP-sex interaction analysis of susceptibility to idiopathic pulmonary fibrosis

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.

Association study of human leukocyte antigen (HLA) variants and idiopathic pulmonary fibrosis

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.

Asthma exacerbations and eosinophilia in the UK Biobank: a Genome-Wide Association Study

This study performs a GWAS on asthma exacerbations in the UK Biobank, identifying two novel genetic loci associated with exacerbation risk in individuals with asthma.

PCSK6 and Survival in Idiopathic Pulmonary Fibrosis

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: an R package for phenotype generation and association analysis for phenome-wide association studies.

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

Genetic insights into smoking behaviours in 10,558 men of African ancestry from continental Africa and the UK

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

Genome-wide association study of ACE inhibitor-induced cough implicates neuropeptides and shows genetic overlap with chronic dry cough

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

Genetic associations and architecture of asthma-chronic obstructive pulmonary disease overlap

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

Smoking Interaction with a Polygenic Risk Score for Reduced Lung Function

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.

Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity

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.

Pleiotropic effects of heterozygosity for the SERPINA1 Z allele in the UK Biobank

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.

SNPs associated with HHIP expression have differential effects on lung function in males and females

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

Smoking, DNA methylation and lung function: a Mendelian randomization analysis to investigate causal relationships

This study uses Mendelian randomization to investigate causal relationships between smoking-associated DNA methylation and lung function, identifying 18 CpGs with potential causal effects on FEV1.

Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis

This study identifies three new genetic loci associated with idiopathic pulmonary fibrosis and confirms 11 previously reported ones, highlighting mTOR signaling and mitotic spindle-assembly genes in disease susceptibility.

Expanded genetic landscape of chronic obstructive pulmonary disease reveals heterogeneous cell type and phenotype associations

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

Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

The paper analyzes rare coding variants in smoking and drinking behavior using exome chip data, finding that they contribute to phenotypic variation but require larger samples for individual variant associations.

Human CCL3L1 copy number variation, gene expression, and the role of the CCL3L1-CCR5 axis in lung function

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.

Causal Analyses, Statistical Efficiency And Phenotypic Precision Through Recall-By-Genotype Study Design

This paper introduces the Recall-by-Genotype study design to improve causal inference in genetic studies through genotype-directed deep-phenotyping.