George T. O’Connor

Genetic Determinants of Pulmonary Artery Size in over 50,000 Subjects with and without COPD

This study identifies 44 genetic loci associated with pulmonary artery diameter across COPD and population-based cohorts, highlighting shared causal variation between pulmonary and systemic vascular biology.

Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype

This study identifies gene-environment interactions between excessive daytime sleepiness and genetic variants linked to obstructive sleep apnea severity, revealing novel therapeutic targets.

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

Multi-ancestry genome-wide association study improves resolution of genes, pathways and pleiotropy for lung function and chronic obstructive pulmonary disease

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.

A Functional Genomics Pipeline to Identify High-Value Asthma and Allergy CpGs in the Human Methylome

The paper identifies high-value CpGs in the human methylome associated with allergic sensitization using a custom array and WGBS data from airway epithelial cells.

Multi-omic association study identifies DNA methylation-mediated genotype and smoking exposure effects on lung function in children living in urban settings

This study identifies a genetic variant associated with reduced lung function in urban children and shows its mediation by DNA methylation linked to smoking exposure.

Longitudinal data reveal strong genetic and weak non-genetic components of ethnicity-dependent blood DNA methylation levels

The paper analyzes longitudinal DNA methylation data to show that race-associated patterns are present at birth and primarily genetic, with strong genetic and weak non-genetic contributions.

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.

Heritability and genome-wide association study of diffusing capacity of the lung

This study investigates the heritability and genetic variants associated with lung diffusing capacity, finding a significant association with a variant in the GPR126 gene.

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

This study identifies over 50 new genetic loci associated with pulmonary function through a multiethnic meta-analysis of 90,715 individuals.

Meta-analysis of exome array data identifies six novel genetic loci for lung function