Alexander P. Reiner
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View article: Plasma p-tau217 and incident mild cognitive impairment and dementia in older women: 25-year prospective study in The Women’s Health Initiative Memory Study
Plasma p-tau217 and incident mild cognitive impairment and dementia in older women: 25-year prospective study in The Women’s Health Initiative Memory Study Open
No study has evaluated whether associations of plasma phosphorylated tau 217 (p-tau217) with mild cognitive impairment (MCI) or dementia vary by race or hormone therapy (HT) use. We examined 2,766 cognitively unimpaired women ≥65 years ran…
View article: Clonal Hematopoiesis and Cardiovascular Outcomes in Older Women
Clonal Hematopoiesis and Cardiovascular Outcomes in Older Women Open
In an older female cohort, key CHIP subtypes (TET2, ASXL1, and JAK2) were associated with incident CVD, with associations that appeared to differ by CVD outcome. These findings suggest that CHIP remains associated with cardiovascular healt…
View article: Clonal Hematopoiesis of Indeterminate Potential and the Risk of Cognitive Impairment in the Women’s Health Initiative Memory Study
Clonal Hematopoiesis of Indeterminate Potential and the Risk of Cognitive Impairment in the Women’s Health Initiative Memory Study Open
INTRODUCTION Clonal hematopoiesis of indeterminate potential (CHIP) confers an increased risk of several chronic aging-related diseases. Paradoxically, CHIP was associated with lower risk of dementia in recent studies. METHODS We examined …
View article: Protein quantitative trait locus analysis in African American and non-Hispanic White individuals
Protein quantitative trait locus analysis in African American and non-Hispanic White individuals Open
The identification of previously undescribed African ancestry-specific pQTLs contributes to understanding protein genetic regulation and highlights the significance of proteomic analysis in diverse populations.
View article: Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits
Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits Open
Here, we present a multi-omics study of type 2 diabetes and quantitative blood lipid and lipoprotein traits conducted to date in Hispanic/Latino populations (nmax = 63,184). We conduct a meta-analysis of 16 type 2 diabetes and 19 lipid tra…
View article: A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies Open
View article: Characterization of the phenotypic consequences of the Duffy-null genotype
Characterization of the phenotypic consequences of the Duffy-null genotype Open
A wealth of research focused on African American populations has connected rs2814778-CC (“Duffy-null”) to decreased neutrophil (neutropenia) and leukocyte counts (leukopenia). Although it has been proposed that this variant is benign, prio…
View article: Correlates and Consequences of Clonal Hematopoiesis Expansion Rate: A 15-Year Longitudinal Study of 6,986 Women
Correlates and Consequences of Clonal Hematopoiesis Expansion Rate: A 15-Year Longitudinal Study of 6,986 Women Open
Clonal hematopoiesis of indeterminate potential (CHIP) is associated with increased mortality and malignancy risk, yet the determinants of clonal expansion remain poorly understood. We performed sequencing at >4,000x depth of coverage for …
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: Regulation of protein abundance in normal human tissues
Regulation of protein abundance in normal human tissues Open
We report a systematic quantification of 10,841 unique proteins from over 700 GTEx samples, representing five human tissues. Sex, age and genetic factors are associated with variation in protein abundance. In total, 1981 cis-protein quanti…
View article: Beyond eQTLs: Insights into Transcriptomic Variation through Allele-Specific Expression Analysis
Beyond eQTLs: Insights into Transcriptomic Variation through Allele-Specific Expression Analysis Open
View article: Multi-Ancestry Transcriptome Prediction with Functionally Informed Variants in TOPMed MESA Improves Performance of Transcriptome-Wide Association Studies
Multi-Ancestry Transcriptome Prediction with Functionally Informed Variants in TOPMed MESA Improves Performance of Transcriptome-Wide Association Studies Open
View article: Integrative proteomic analyses across common cardiac diseases yield mechanistic insights and enhanced prediction
Integrative proteomic analyses across common cardiac diseases yield mechanistic insights and enhanced prediction Open
View article: Alterations of T Cell Subsets Associated with Sickle Cell Trait
Alterations of T Cell Subsets Associated with Sickle Cell Trait Open
Sickle cell trait (SCT) has been associated with alterations in various immune-related laboratory parameters including lower circulating lymphocyte counts. To further characterize the impact of SCT on the immune system, we performed flow c…
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: Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas
Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas Open
Latin Americans are underrepresented in genetic studies, increasing disparities in personalized genomic medicine. Despite available genetic data from thousands of Latin Americans, accessing and navigating the bureaucratic hurdles for conse…
View article: Heterogeneity-aware integrative regression for ancestry-specific association studies
Heterogeneity-aware integrative regression for ancestry-specific association studies Open
Ancestry-specific proteome-wide association studies (PWAS) based on genetically predicted protein expression can reveal complex disease etiology specific to certain ancestral groups. These studies require ancestry-specific models for prote…
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.
View article: A comprehensive map of the aging blood methylome in humans
A comprehensive map of the aging blood methylome in humans Open
View article: Gene expression and splicing QTL analysis of blood cells in African American participants from the Jackson Heart Study
Gene expression and splicing QTL analysis of blood cells in African American participants from the Jackson Heart Study Open
Most gene expression and alternative splicing quantitative trait loci (eQTL/sQTL) studies have been biased toward European ancestry individuals. Here, we performed eQTL and sQTL analyses using TOPMed whole-genome sequencing-derived genotyp…
View article: Transcriptome-wide association study and Mendelian randomization in pancreatic cancer identifies susceptibility genes and causal relationships with type 2 diabetes and venous thromboembolism
Transcriptome-wide association study and Mendelian randomization in pancreatic cancer identifies susceptibility genes and causal relationships with type 2 diabetes and venous thromboembolism Open
View article: Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate
Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate Open
View article: Multi-ancestry polygenic risk scores for venous thromboembolism
Multi-ancestry polygenic risk scores for venous thromboembolism Open
Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality, with large disparities in incidence rates between Black and White Americans. Polygenic risk scores (PRSs) limited to variants discovered in genome-wide a…
View article: EndoPRS: Incorporating Endophenotype Information to Improve Polygenic Risk Scores for Clinical Endpoints
EndoPRS: Incorporating Endophenotype Information to Improve Polygenic Risk Scores for Clinical Endpoints Open
Polygenic risk score (PRS) prediction of complex diseases can be improved by leveraging related phenotypes. This has motivated the development of several multi-trait PRS methods that jointly model information from genetically correlated tr…