Donald W. Bowden
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View article: Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database Open
Incomplete penetrance, or absence of disease phenotype in an individual with a disease-associated variant, is a major challenge in variant interpretation. Studying individuals with apparent incomplete penetrance can shed light on underlyin…
View article: Metabolomic signatures of cognitive function in a type 2 Diabetes-Enriched cohort
Metabolomic signatures of cognitive function in a type 2 Diabetes-Enriched cohort Open
To understand the relationship between type 2 diabetes (T2D) and risk for developing cognitive impairment, this study is the first to examine association between metabolites measured at mid-life and cognitive performance assessed later in …
View article: Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele
Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele Open
Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study lev…
View article: Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants
Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants Open
Background Genome‐wide association studies have identified several hundred susceptibility single nucleotide variants for coronary artery disease (CAD). Despite single nucleotide variant‐based genome‐wide association studies improving our u…
View article: An Integrated Germline and Somatic Genomic Model Improves Risk Prediction for Coronary Artery Disease
An Integrated Germline and Somatic Genomic Model Improves Risk Prediction for Coronary Artery Disease Open
Multiple germline and somatic genomic factors are associated with risk of coronary artery disease (CAD), but there is no single measure of risk that integrates all information from a DNA sample, limiting clinical use of genomic information…
View article: Multi-omics Analyses Identify AKR1A1 as a Biomarker for Diabetic Kidney Disease
Multi-omics Analyses Identify AKR1A1 as a Biomarker for Diabetic Kidney Disease Open
Diabetic kidney disease (DKD) is the leading cause of end-stage kidney disease. As many genes associate with DKD, multi-omics approaches were employed to narrow the list of functional genes, gene products and related pathways providing ins…
View article: Multiomics Analyses Identify AKR1A1 as a Biomarker for Diabetic Kidney Disease
Multiomics Analyses Identify AKR1A1 as a Biomarker for Diabetic Kidney Disease Open
Diabetic kidney disease (DKD) is the leading cause of end-stage kidney disease. Because many genes associate with DKD, multiomics approaches were used to narrow the list of functional genes, gene products, and related pathways providing in…
View article: HDAC9 is implicated in atherosclerotic aortic calcification and affects vascular smooth muscle cell phenotype
HDAC9 is implicated in atherosclerotic aortic calcification and affects vascular smooth muscle cell phenotype Open
Aortic calcification is an important independent predictor of future cardiovascular events. We performed a genome-wide association meta-analysis to determine SNPs associated with the extent of abdominal aortic calcification (n = 9,417) or …
View article: Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis
Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis Open
BACKGROUND: Individuals with type 2 diabetes (T2D) have an increased risk of coronary artery disease (CAD), but questions remain about the underlying pathology. Identifying which CAD loci are modified by T2D in the development of subclinic…
View article: A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies
A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies Open
Large-scale whole-genome sequencing (WGS) studies have improved our understanding of the contributions of coding and noncoding rare variants to complex human traits. Leveraging association effect sizes across multiple traits in WGS rare va…
View article: WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE
WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE Open
Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study lev…
View article: Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma
Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma Open
US NIH/NHLBI grants: P01HL132825, K99HL159234. N01-HC-25195 and HHSN268201500001I.
View article: Nucleotide variation, haplotype structure, and association with end-stage renal disease of the human interleukin-1 gene cluster
Nucleotide variation, haplotype structure, and association with end-stage renal disease of the human interleukin-1 gene cluster Open
A dense gene-based SNP map was constructed across a 360-kb region containing the interleukin-1 gene cluster (IL1A, IL1B, and IL1RN), focusing on IL1RN. In total, 95 polymorphisms were confirmed or identified primarily by direct sequencing.…
View article: A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20
A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20 Open
Recent linkage studies and association analyses indicate the presence of at least one type 2 diabetes susceptibility gene in human chromosome region 20q12-q13.1. We have constructed a high-resolution 6.0-megabase (Mb) transcript map of thi…
View article: Rare damaging<i>CCR2</i>variants are associated with lower lifetime cardiovascular risk
Rare damaging<i>CCR2</i>variants are associated with lower lifetime cardiovascular risk Open
Background Previous work has shown a role of CCL2, a key chemokine governing monocyte trafficking, in atherosclerosis. However, it remains unknown whether targeting CCR2, the cognate receptor of CCL2, provides protection against human athe…