Marcus G. Pezzolesi
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View article: Ambient particulate air pollution is associated with higher risk of microvascular complications and diabetic ketoacidosis among persons with type 1 diabetes mellitus in an observational survival study
Ambient particulate air pollution is associated with higher risk of microvascular complications and diabetic ketoacidosis among persons with type 1 diabetes mellitus in an observational survival study Open
We hypothesize these effects stem from PM2.5-induced oxidative stress and systemic inflammation, which may exacerbate metabolic disruptions already present in hyperglycemic individuals. Clients and providers may want to consider environmen…
View article: Renal Phenotype Variations among Families with Autosomal Alport Syndrome
Renal Phenotype Variations among Families with Autosomal Alport Syndrome Open
Key Points Modifying genes may alter the phenotype of patients with Alport syndrome. There is intrafamilial and interfamilial phenotype variation in Alport syndrome. Background Alport syndrome (AS) is an inherited disorder characterized by…
View article: Low-frequency variants in genes involved in glutamic acid metabolism and γ-glutamyl cycle and risk of coronary artery disease in type 2 diabetes
Low-frequency variants in genes involved in glutamic acid metabolism and γ-glutamyl cycle and risk of coronary artery disease in type 2 diabetes Open
In summary, we have identified low-frequency variants associated with CAD in T2D at two loci involved in glutamic acid metabolism and the γ-glutamyl cycle. These findings provide further evidence for a role of these pathways in the link be…
View article: Circulating proteins linked to apoptosis processes and fast development of end-stage kidney disease in diabetes
Circulating proteins linked to apoptosis processes and fast development of end-stage kidney disease in diabetes Open
Many circulating proteins are associated with risk of ESKD, but their source and the biological pathways/disease processes they represent are unclear. Using OLINK proteomics platform, concentrations of 455 proteins were measured in plasma …
View article: A Draft Pacific Ancestry Pangenome Reference
A Draft Pacific Ancestry Pangenome Reference Open
Individuals of Pacific ancestry suffer some of the highest rates of health disparities yet remain vastly underrepresented in genomic research, including currently available linear and pangenome references. To begin addressing this, we deve…
View article: Preanalytical considerations in quantifying circulating miRNAs that predict end-stage kidney disease in diabetes
Preanalytical considerations in quantifying circulating miRNAs that predict end-stage kidney disease in diabetes Open
Our previous study identified 8 risk and 9 protective plasma miRNAs associated with progression to end-stage kidney disease (ESKD) in diabetes. This study aimed to elucidate preanalytical factors that influence the quantification of circul…
View article: Integrated analysis of blood DNA methylation, genetic variants, circulating proteins, microRNAs, and kidney failure in type 1 diabetes
Integrated analysis of blood DNA methylation, genetic variants, circulating proteins, microRNAs, and kidney failure in type 1 diabetes Open
Variation in DNA methylation (DNAmet) in white blood cells and other cells/tissues has been implicated in the etiology of progressive diabetic kidney disease (DKD). However, the specific mechanisms linking DNAmet variation in blood cells w…
View article: The associations between COVID-19 diagnosis, type 1 diabetes, and the risk of diabetic ketoacidosis: A nationwide cohort from the US using the Cerner Real-World Data
The associations between COVID-19 diagnosis, type 1 diabetes, and the risk of diabetic ketoacidosis: A nationwide cohort from the US using the Cerner Real-World Data Open
Objective To assess the risk of new-onset type 1 diabetes mellitus (T1D) diagnosis following COVID-19 diagnosis and the impact of COVID-19 diagnosis on the risk of diabetic ketoacidosis (DKA) in patients with prior T1D diagnosis. Research …
View article: The Impact of Long-Term Air Pollution Exposure on Type 1 Diabetes Mellitus-Related Mortality among U.S. Medicare Beneficiaries
The Impact of Long-Term Air Pollution Exposure on Type 1 Diabetes Mellitus-Related Mortality among U.S. Medicare Beneficiaries Open
BACKGROUND AND AIM: The impact of chronic exposure to air pollution [including fine particulate matter (PM2.5) and nitrogen dioxide (NO2)] on type 2 diabetes mellitus has been extensively studied. However, little previous literature has in…
View article: Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes
Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes Open
Significance Statement Genetic differences are possible contributing factors to the substantial unexplained variability in rates of renal function loss in type 1 diabetes. Gene-based testing of protein coding genetic variants in whole-exom…
View article: Comprehensive Search for Novel Circulating miRNAs and Axon Guidance Pathway Proteins Associated with Risk of ESKD in Diabetes
Comprehensive Search for Novel Circulating miRNAs and Axon Guidance Pathway Proteins Associated with Risk of ESKD in Diabetes Open
Significance Statement Mechanisms underlying the progression of diabetic kidney disease to ESKD are not fully understood. Through profiling of circulating microRNAs (miRNAs) and proteins in individuals with type 1 and type 2 diabetes from …
View article: Rotten to the Cortex: Ceramide-Mediated Lipotoxicity in Diabetic Kidney Disease
Rotten to the Cortex: Ceramide-Mediated Lipotoxicity in Diabetic Kidney Disease Open
Diabetic kidney disease (DKD) is a prevalent and progressive comorbidity of diabetes mellitus that increases one’s risk of developing renal failure. Progress toward development of better DKD therapeutics is limited by an incomplete underst…
View article: Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease Open
Introduction: Diabetes is the most common cause of chronic kidney disease (CKD). For patients with diabetes and CKD, the underlying cause of their kidney disease is often assumed to be a consequence of their diabetes. Without histopatholog…
View article: Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Kidney Disease-Related Genes in Patients with Diabetic Kidney Disease
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Kidney Disease-Related Genes in Patients with Diabetic Kidney Disease Open
Diabetes is the most common cause of chronic kidney disease (CKD). For patients with diabetes and CKD, the underlying cause of their kidney disease is often assumed to be a consequence of their diabetes. Without histopathological confirmat…
View article: <i>PPARA</i> Polymorphism Influences the Cardiovascular Benefit of Fenofibrate in Type 2 Diabetes: Findings From ACCORD-Lipid
<i>PPARA</i> Polymorphism Influences the Cardiovascular Benefit of Fenofibrate in Type 2 Diabetes: Findings From ACCORD-Lipid Open
The cardiovascular benefits of fibrates have been shown to be heterogeneous and to depend on the presence of atherogenic dyslipidemia. We investigated whether genetic variability in the PPARA gene, coding for the pharmacological target of …
View article: Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen
Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen Open
Significance Statement Although studies show that diabetic kidney disease has a heritable component, searches for the genetic determinants of this complication of diabetes have had limited success. In this study, a new international genomi…
View article: Residual β cell function and monogenic variants in long-duration type 1 diabetes patients
Residual β cell function and monogenic variants in long-duration type 1 diabetes patients Open
BACKGROUNDIn the Joslin Medalist Study (Medalists), we determined whether significant associations exist between β cell function and pathology and clinical characteristics.METHODSIndividuals with type 1 diabetes (T1D) for 50 or more years …
View article: Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes
Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes Open
Solute Carrier Family 19 Member 2 (SLC19A2) encodes thiamine transporter 1 (THTR1), which facilitates thiamine transport across the cell membrane. SLC19A2 homozygous mutations have been described as a cause of thiamine-responsive megalobla…
View article: Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen
Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen Open
Diabetic kidney disease (DKD) is a heritable but poorly understood complication of diabetes. To identify genetic variants predisposing to DKD, we performed genome-wide association analyses in 19,406 individuals with type 1 diabetes (T1D) u…
View article: Variations in Risk of End-Stage Renal Disease and Risk of Mortality in an International Study of Patients With Type 1 Diabetes and Advanced Nephropathy
Variations in Risk of End-Stage Renal Disease and Risk of Mortality in an International Study of Patients With Type 1 Diabetes and Advanced Nephropathy Open
OBJECTIVE Patients with type 1 diabetes and diabetic nephropathy are targets for intervention to reduce high risk of end-stage renal disease (ESRD) and deaths. This study compares risks of these outcomes in four international cohorts. RESE…
View article: The Familiality of Rapid Renal Decline in Diabetes
The Familiality of Rapid Renal Decline in Diabetes Open
Sustained and rapid loss of glomerular filtration rate (GFR) is the predominant clinical feature of diabetic kidney disease and a requisite for the development of end-stage renal disease. Although GFR trajectories have been studied in seve…
View article: Islet-Derived eATP Fuels Autoreactive CD8+ T Cells and Facilitates the Onset of Type 1 Diabetes
Islet-Derived eATP Fuels Autoreactive CD8+ T Cells and Facilitates the Onset of Type 1 Diabetes Open
Extracellular ATP (eATP) activates T cells by engaging the P2X7R receptor. We identified two loss-of-function P2X7R mutations that are protective against type 1 diabetes (T1D) and thus hypothesized that eATP/P2X7R signaling may represent a…
View article: A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.
A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. Open
Identification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association s…
View article: A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes
A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes Open
Identification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association s…
View article: Circulating miRNA Profiles Associated With Hyperglycemia in Patients With Type 1 Diabetes
Circulating miRNA Profiles Associated With Hyperglycemia in Patients With Type 1 Diabetes Open
We investigated plasma microRNA (miRNA) profiles associated with variation of hyperglycemia, measured as hemoglobin A1c (HbA1c), in two panels of patients with type 1 diabetes (T1D). Using the HTG Molecular Diagnostics EdgeSeq platform, 2,…