Derek M. Klarin

Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations

The paper identifies 800 exome-wide significant rare coding variants associated with blood lipids in over a million diverse individuals, including 130 driven by non-European-like populations.

Mendelian randomization suggests a causal link between glycemic traits and thoracic aortic structures and diseases

This study uses Mendelian randomization to show that higher glycemic traits are inversely associated with thoracic aortic diameters and reduced risk of aneurysm and dissection.

Multi-ancestry genome-wide association meta-analysis of mosaic loss of chromosome Y in the Million Veteran Program identifies 240 novel loci

This study identifies 240 novel genetic loci associated with mosaic loss of chromosome Y through a multi-ancestry GWAS of the Million Veteran Program and UK Biobank.

Evaluation of plasma biomarkers for causal association with peripheral artery disease

This paper evaluates plasma biomarkers for causal association with peripheral artery disease using Mendelian randomization, identifying 19 biomarkers with significant genetic evidence for causality.

Admixture Mapping of Peripheral Artery Disease in a Dominican Population Reveals a Novel Risk Locus on 2q35

The paper identifies a novel risk locus for PAD on 2q35 in Dominicans using admixture mapping and health systems data.

Implicating genes, pleiotropy and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors

This study identifies 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

Multi-ancestry GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish

This study conducts a multi-ancestry GWAS for venous thromboembolism, identifies novel loci, and validates their function in zebrafish.

A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

Multi-ancestry GWAS deciphers genetic architecture of abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target

This study identifies 144 genetic loci associated with abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target through Mendelian Randomization and pre-clinical validation.

Multi-trait GWAS of atherosclerosis detects novel pleiotropic loci

This study performs multi-trait GWAS on atherosclerosis-related traits to identify novel pleiotropic loci and their potential biological mechanisms.

TP53-mediated clonal hematopoiesis confers increased risk for incident peripheral artery disease

This study shows that clonal hematopoiesis, especially with DDR gene mutations, increases the risk of peripheral artery disease and atherosclerosis.

Multi-trait association studies discover pleiotropic loci between Alzheimer's disease and cardiometabolic traits

This study identifies pleiotropic genetic loci shared between Alzheimer's disease and cardiometabolic traits using bivariate GWAS and colocalization analysis.

Assessing a causal relationship between circulating lipids and breast cancer risk: Mendelian randomization study

This study uses Mendelian randomization to assess the causal relationship between plasma lipid levels and breast cancer risk, finding that higher HDL levels are associated with increased breast cancer risk.

Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis.

Multi-ethnic type 2 diabetes (T2D) meta-analysis of 228,499 cases and 1,178,783 controls finds 318 previously unreported loci, 804 expression-colocalized genes, and 13 SNP-by-T2D vascular-outcome interactions.

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

The paper identifies a missense variant in the MARC1 gene associated with protection against cirrhosis and lower liver enzyme and cholesterol levels.

Genetic Association of Arterial Stiffness Index with Blood Pressure and Coronary Artery Disease

This study investigates whether genetic predisposition to higher arterial stiffness index (ASI) is associated with blood pressure and coronary artery disease risk, finding a link with blood pressure but not CAD.

Genome-wide Association Study of Alcohol Consumption and Use Disorder in Multiple Populations (N = 274,424)

This study identifies 18 genome-wide significant loci for alcohol consumption and AUD, finds genetic overlap but also divergence, and highlights the role of central nervous system cells.

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.