Rafael Lantigua
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View article: Polygenic scores of Core 1 Alzheimer's disease biomarkers predict early cognitive and pathological change
Polygenic scores of Core 1 Alzheimer's disease biomarkers predict early cognitive and pathological change Open
INTRODUCTION Core 1 biomarkers, such as amyloid positron emission tomography, capture the earliest biological changes leading to Alzheimer's disease (AD). While APOE is a major genetic factor, the contribution of other variants to Core 1 b…
View article: Frequency of Microvascular Pathology and Hippocampal Atrophy on <scp>Magnetic Resonance Imaging</scp> in a Community Study of Alzheimer's Disease with Blood‐Based Biomarkers
Frequency of Microvascular Pathology and Hippocampal Atrophy on <span>Magnetic Resonance Imaging</span> in a Community Study of Alzheimer's Disease with Blood‐Based Biomarkers Open
Objective Blood‐based biomarkers for Alzheimer's disease (AD), representing antemortem indicators of AD pathophysiology, have greatly improved the accuracy of diagnosis. However, these biomarkers may not capture a frequent coincident patho…
View article: Evaluating polygenic risk score prediction performance for Alzheimer's disease in a population-based Hispanic cohort using single- and multi-ancestry models
Evaluating polygenic risk score prediction performance for Alzheimer's disease in a population-based Hispanic cohort using single- and multi-ancestry models Open
National Institutes of Health R01 AG072474, RF1 AG066107, 5R37AG015473, RF1AG015473, R56AG051876, R01 AG067501, and UL1TR001873.
View article: Polygenic Scores of Core-1 Alzheimer’s Disease Biomarkers Predict Early Cognitive and Pathological Change
Polygenic Scores of Core-1 Alzheimer’s Disease Biomarkers Predict Early Cognitive and Pathological Change Open
BACKGROUND Core-1 biomarkers, such as amyloid PET, capture the earliest biological changes leading to Alzheimer’s disease (AD). While APOE is a major genetic factor, the contribution of other variants to Core-1 biomarkers remains unclear. …
View article: Biological Age and Age Acceleration Predict Alzheimer’s Disease Plasma Biomarker Levels
Biological Age and Age Acceleration Predict Alzheimer’s Disease Plasma Biomarker Levels Open
Epigenetic clocks can predict pathological aging associated with Alzheimer’s disease (AD) risk, albeit findings are mixed regarding if clocks are predictive in blood and in non-European populations. We constructed epigenetic clocks from bl…
View article: Single-nucleus multiomics in brains from Hispanic individuals reveal<i>APOE-ε4</i>-driven disruption of focal adhesion signaling in the presence of cerebrovascular pathology
Single-nucleus multiomics in brains from Hispanic individuals reveal<i>APOE-ε4</i>-driven disruption of focal adhesion signaling in the presence of cerebrovascular pathology Open
The apolipoprotein E ε4 allele ( APOE-ε4 ) is the strongest genetic risk factor for late-onset Alzheimer’s disease (AD), yet its molecular impact on cerebrovascular biology remains inconclusive, particularly in underrepresented populations…
View article: Association of dietary fatty acids with longitudinal change in plasma-based biomarkers of Alzheimer's disease
Association of dietary fatty acids with longitudinal change in plasma-based biomarkers of Alzheimer's disease Open
View article: Genetic Regulation of the Metabolome Differs by Sex, Alzheimer’s Disease Stage, and Plasma Biomarker Status
Genetic Regulation of the Metabolome Differs by Sex, Alzheimer’s Disease Stage, and Plasma Biomarker Status Open
We investigated genetic regulators of circulating plasma metabolites to identify pathways underlying biochemical changes in clinical and biomarker-assisted diagnosis of Alzheimer’s disease (AD). We computed metabolite quantitative trait lo…
View article: Inflammatory biomarkers profiles and cognition among older adults
Inflammatory biomarkers profiles and cognition among older adults Open
View article: Assessing Attitudes and Perceptions of High-Risk, Low-Resource Communities Towards Cardiopulmonary Resuscitation and Public-Access Defibrillation
Assessing Attitudes and Perceptions of High-Risk, Low-Resource Communities Towards Cardiopulmonary Resuscitation and Public-Access Defibrillation Open
Background: Layperson cardiopulmonary resuscitation (CPR) and automated external defibrillator (AED) use are vital for improving survival rates after out-of-hospital cardiac arrest (OHCA), yet their application varies by community demograp…
View article: Rare <i>PANK2</i> variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic
Rare <i>PANK2</i> variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic Open
Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare, autosomal recessive neurological disorder characterized by the progressive degeneration of specific regions in the brain and is invariably fatal. Several individuals in fam…
View article: Association of CSF Proteome with CSF P‐tau181 levels and other biomarkers of Alzheimer's Disease
Association of CSF Proteome with CSF P‐tau181 levels and other biomarkers of Alzheimer's Disease Open
Background We investigated the relationship between the cerebrospinal fluid (CSF) proteome in Alzheimer’s disease (AD) and the clinical and biomarker‐assisted diagnoses. Methods CSF was collected in 500 individuals of non‐Hispanic white, A…
View article: Multi‐ancestry Genome‐wide Gene‐Vascular Risk Factors Interaction Analyses in Alzheimer’s Disease
Multi‐ancestry Genome‐wide Gene‐Vascular Risk Factors Interaction Analyses in Alzheimer’s Disease Open
Background Cardio and cerebrovascular risk factors (CVRFs) increase the risk of cerebrovascular disease and clinical Alzheimer’s Disease (AD), and over 70% of the patients with AD coincident cerebrovascular pathology. We previously found t…
View article: Sex Differences in the Risk of Alzheimer’s Disease and Associated Risk Factors Among Aging Hispanics: A Cross‐country Study
Sex Differences in the Risk of Alzheimer’s Disease and Associated Risk Factors Among Aging Hispanics: A Cross‐country Study Open
Background Hispanics, one of the fastest‐growing populations in the United States, are disproportionately affected by Alzheimer’s disease (AD). Understanding the variations in AD risk associated with sex and the impact of relocation from t…
View article: Blood‐Based Biomarkers to Aid in Alzheimer’s Disease Prediction or Diagnosis: Analysis in a Multi‐Ethnic Cohort Study
Blood‐Based Biomarkers to Aid in Alzheimer’s Disease Prediction or Diagnosis: Analysis in a Multi‐Ethnic Cohort Study Open
Background Blood‐based biomarkers may aid in the diagnosis of Alzheimer’s Disease (AD), but their contribution may be confounded by the presence of multiple chronic conditions and have not been well‐tested in community populations. In the …
View article: Información de la Enfermedad de Alzheimer para Latinos: A Study Framework for Alzheimer’s Genetic Risk Disclosure in an Urban, Latino Population
Información de la Enfermedad de Alzheimer para Latinos: A Study Framework for Alzheimer’s Genetic Risk Disclosure in an Urban, Latino Population Open
Background The IDEAL study is a randomized clinical trial investigating the psychosocial, behavioral, and cognitive impacts of genetic risk disclosure for late‐onset Alzheimer’s disease (LOAD) among Latinos. Methods We used address‐based s…
View article: Rare genetic variation in fibronectin 1 (<i>FN1</i>) protects against <i>APOE</i> ɛ4 in Alzheimer’s Disease
Rare genetic variation in fibronectin 1 (<i>FN1</i>) protects against <i>APOE</i> ɛ4 in Alzheimer’s Disease Open
Background APOEε4 significantly increases the risk of developing Alzheimer’s disease (AD). Cognitively healthy APOEε4 ‐carriers exist, suggesting potential protective mechanisms against APOEε4 . We hypothesized that some APOEε4‐ carriers m…
View article: Biomarkers, clinical status, and cognitive performance in a Caribbean Hispanic cohort
Biomarkers, clinical status, and cognitive performance in a Caribbean Hispanic cohort Open
Background Plasma biomarkers may be utilized to assist in diagnosis of Alzheimer's disease. However, in a cohort of Caribbean Hispanic individuals we have shown that there are both individuals who are biomarker positive but without dementi…
View article: Non‐<i>APOE</i> Polygenic risk score derived from European ancestry data are more predictive of dementia among Hispanics who are <i>APOE</i> ε4 carriers
Non‐<i>APOE</i> Polygenic risk score derived from European ancestry data are more predictive of dementia among Hispanics who are <i>APOE</i> ε4 carriers Open
Background Despite concerns about the transferability of polygenic risk scores (PRS) derived from European ancestry data to Hispanics, recent research suggests that many genetic loci identified through European ancestry genome‐wide associa…
View article: Modifier Effects of APOE E2 and E4 Alleles on the age at onset of Alzheimer Disease in Puerto Rican G206A Mutation Carriers: A Family‐Based Study
Modifier Effects of APOE E2 and E4 Alleles on the age at onset of Alzheimer Disease in Puerto Rican G206A Mutation Carriers: A Family‐Based Study Open
Background APOE E4 (APOE4 henceforth) is recognized as a major genetic risk factor for late‐onset Alzheimer's disease (AD), with its impact varying across ethnic subgroups. We investigate the risk of APOE4 and the protective effect of APOE…
View article: Exploring the Immediate Impact of <i>APOE</i> ε4ε4 Genotype Disclosure among Latinos
Exploring the Immediate Impact of <i>APOE</i> ε4ε4 Genotype Disclosure among Latinos Open
Background Alzheimer’s disease (AD) risk is markedly increased among APOE ε4/ε4 homozygotes. Previous studies of APOE genotype disclosure impact have included few ethnic minorities. This study addresses this gap by investigating the immedi…
View article: Beyond GWAS: Investigating Structural Variants and Their Segregation in Familial Alzheimer’s Disease
Beyond GWAS: Investigating Structural Variants and Their Segregation in Familial Alzheimer’s Disease Open
Background Late‐Onset Alzheimer’s Disease (LOAD) is characterized by genetic heterogeneity and there is no single model explaining the genetic mode of inheritance. To date, more than 70 genetic loci associated with AD have been identified …
View article: Designing and implementing the IDEAL Study: A randomized clinical trial of <i>APOE</i> genotype disclosure for late‐onset Alzheimer's disease in an urban Latino population
Designing and implementing the IDEAL Study: A randomized clinical trial of <i>APOE</i> genotype disclosure for late‐onset Alzheimer's disease in an urban Latino population Open
INTRODUCTION The Información de la Enfermedad de Alzheimer para Latinos (IDEAL) Study is a randomized clinical trial investigating the psychosocial, behavioral, and cognitive impacts of apolipoprotein E ( APOE ) genotype disclosure for lat…
View article: Missense and loss‐of‐function variants at GWAS loci in familial Alzheimer's disease
Missense and loss‐of‐function variants at GWAS loci in familial Alzheimer's disease Open
BACKGROUND Few rare variants have been identified in genetic loci from genome‐wide association studies (GWAS) of Alzheimer's disease (AD), limiting understanding of mechanisms, risk assessment, and genetic counseling. METHODS Using genome …
View article: Epigenetic and genetic risk of Alzheimer disease from autopsied brains in two ethnic groups
Epigenetic and genetic risk of Alzheimer disease from autopsied brains in two ethnic groups Open
Genetic variants and epigenetic features both contribute to the risk of Alzheimer's disease (AD). We studied the AD association of CpG-related single nucleotide polymorphisms (CGS), which act as a hub of both the genetic and epigenetic eff…
View article: Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease Open
The risk of developing Alzheimer’s disease (AD) significantly increases in individuals carrying the APOEε4 allele. Elderly cognitively healthy individuals with APOEε4 also exist, suggesting the presence of cellular mechanisms that countera…
View article: Physical Activity Moderates the Relationship between Cardiovascular Disease Risk Burden and Cognition in Older Adults
Physical Activity Moderates the Relationship between Cardiovascular Disease Risk Burden and Cognition in Older Adults Open
Introduction: Older individuals with a higher cardiovascular disease (CVD) burden have a higher risk for accelerated cognitive decline and dementia. Physical activity (PA) is an inexpensive and accessible preventive measure t…
View article: MU-BRAIN: MUltiethnic Brain Rna-seq for Alzheimer INitiative
MU-BRAIN: MUltiethnic Brain Rna-seq for Alzheimer INitiative Open
Alzheimer’s Disease (AD) exhibits a complex molecular and phenotypic profile. Investigating gene expression plays a crucial role in unraveling the disease’s etiology and progression. Transcriptome data across ethnic groups lack, negatively…
View article: Multi-omics Characterization of Epigenetic and Genetic Risk of Alzheimer Disease in Autopsied Brains from two Ethnic Groups
Multi-omics Characterization of Epigenetic and Genetic Risk of Alzheimer Disease in Autopsied Brains from two Ethnic Groups Open
Background Both genetic variants and epigenetic features contribute to the risk of Alzheimer’s disease (AD). We studied the AD association of CpG-related single nucleotide polymorphisms (CGS), which act as the hub of both the genetic and e…
View article: Lysophosphatidylcholines are associated with P-tau181 levels in early stages of Alzheimer’s Disease
Lysophosphatidylcholines are associated with P-tau181 levels in early stages of Alzheimer’s Disease Open