Albert V. Smith
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View article: Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations
Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations Open
Clonal hematopoiesis (CH) is defined by the expansion of a lineage of genetically identical cells in blood. Genetic lesions that confer a fitness advantage, such as leukemogenic point mutations or mosaic chromosomal alterations (mCAs), are…
View article: Protective mechanisms against Alzheimer's disease in APOE3‐Christchurch homozygous astrocytes
Protective mechanisms against Alzheimer's disease in APOE3‐Christchurch homozygous astrocytes Open
INTRODUCTION Alzheimer's disease (AD) is characterized by tau pathology, leading to neurodegeneration. Astrocytes regulate central nervous system homeostasis and influence AD progression. The APOE3‐Christchurch (APOE3‐Ch) variant is linked…
View article: Whole-genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia
Whole-genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia Open
In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is k…
View article: Associations between Ambient Air Pollutants and Clonal Hematopoiesis of Indeterminate Potential.
Associations between Ambient Air Pollutants and Clonal Hematopoiesis of Indeterminate Potential. Open
BACKGROUND: Clonal hematopoiesis of indeterminate potential (CHIP) is an age-related somatic mutation associated with incident hematologic cancer. Environmental stressors which, like air pollution, generate oxidative stress at the cellular…
View article: Genome-wide gene by sleepiness interaction analysis for sleep apnea
Genome-wide gene by sleepiness interaction analysis for sleep apnea Open
Study Objectives Excessive daytime sleepiness (EDS), influenced by environmental and social-behavioral factors, is reported by a subset of patients with sleep apnea—a group that may be at elevated cardiovascular risk. However, it is unclea…
View article: Whole genome sequence association analysis of brain structural volume measures in the NHLBI TOPMed Program highlights novel loci in diverse participants
Whole genome sequence association analysis of brain structural volume measures in the NHLBI TOPMed Program highlights novel loci in diverse participants Open
Brain structural volumes are highly heritable and are linked to multiple neuropsychological outcomes, including Alzheimer’s disease (AD). Genome-wide association studies have successfully identified genetic variants associated with intracr…
View article: Anticoagulation Timing in Acute Stroke With Atrial Fibrillation According to Chronic Kidney Disease: The OPTIMAS Trial
Anticoagulation Timing in Acute Stroke With Atrial Fibrillation According to Chronic Kidney Disease: The OPTIMAS Trial Open
BACKGROUND: Patients with chronic kidney disease (CKD) are at increased risk of ischemic stroke (IS) and intracerebral hemorrhage, so the safety and efficacy of early direct oral anticoagulant (DOAC) initiation in those with CKD are of cli…
View article: A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels Open
Coagulation factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are critical to coagulation and platelet aggregation. We leveraged whole-genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) program …
View article: Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed Open
Most genetic variants associated with complex traits and diseases occur in non-coding genomic regions and are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we characterize 14,3…
View article: Protective mechanisms against Alzheimer’s Disease in APOE3-Christchurch homozygous astrocytes
Protective mechanisms against Alzheimer’s Disease in APOE3-Christchurch homozygous astrocytes Open
The APOE3-Christchurch (APOE3-Ch) variant has been linked to reduced Alzheimer’s Disease (AD) risk, but its protective mechanisms remain unclear. This study explores the neuroprotective phenotype of APOE3-Ch astrocytes, focusing on lipid m…
View article: Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood Open
Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer disease, solid tumors, and other age-relat…
View article: Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia
Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia Open
In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is k…
View article: Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype
Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype Open
Obstructive sleep apnea (OSA) is a multifactorial sleep disorder characterized by a strong genetic basis. Excessive daytime sleepiness (EDS) is a symptom that is reported by a subset of OSA patients, persisting even after treatment with co…
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: Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype
Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype Open
Obstructive sleep apnea (OSA) is a multifactorial sleep disorder characterized by a strong genetic basis. Excessive daytime sleepiness (EDS) is a symptom that is reported by a subset of OSA patients, persisting even after treatment with co…
View article: Genetic Associations of Persistent Opioid Use After Surgery Point to <i>OPRM1</i> but Not Other Opioid‐Related Loci as the Main Driver of Opioid Use Disorder
Genetic Associations of Persistent Opioid Use After Surgery Point to <i>OPRM1</i> but Not Other Opioid‐Related Loci as the Main Driver of Opioid Use Disorder Open
Persistent opioid use after surgery is a common morbidity outcome associated with subsequent opioid use disorder, overdose, and death. While phenotypic associations have been described, genetic associations remain unidentified. Here, we co…
View article: Table S1 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP)
Table S1 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP) Open
Supplementary table1 shows additional results for correction for sampling in the WHI cohort
View article: Table S2 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP)
Table S2 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP) Open
Supplementary Table 2 shows additional results for non smokers and never smokers in the MESA and WHI cohorts.
View article: Figure S1 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP)
Figure S1 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP) Open
Figure S1 shows the sample selection for the WHI and MESA cohorts in TOPMed.
View article: Data from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP)
Data from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP) Open
Background Clonal hematopoiesis of indeterminate potential (CHIP) is an age-related somatic mutation associated with incident hematologic cancer. Environmental stressors which, like air pollution, generate oxidative stress at the cellular …
View article: Table S1 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP)
Table S1 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP) Open
Supplementary table1 shows additional results for correction for sampling in the WHI cohort
View article: Figure S1 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP)
Figure S1 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP) Open
Figure S1 shows the sample selection for the WHI and MESA cohorts in TOPMed.
View article: Table S2 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP)
Table S2 from Associations between ambient air pollutants and clonal hematopoiesis of indeterminate potential (CHIP) Open
Supplementary Table 2 shows additional results for non smokers and never smokers in the MESA and WHI cohorts.