Jacob L. McCauley
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View article: Local genetic correlation analysis of Alzheimer’s disease and stroke implicates <i>PHLPP1</i> as a shared locus in individuals of African ancestry
Local genetic correlation analysis of Alzheimer’s disease and stroke implicates <i>PHLPP1</i> as a shared locus in individuals of African ancestry Open
Background Neuropathological studies indicate a strong association between Alzheimer’s disease (AD) and stroke, yet the molecular mechanisms underlying this association remain unclear. Methods Local genetic correlation analysis was conduct…
View article: Behavioral and Psychological Symptoms of Dementia as a Clinical Indicator of Disease Severity and Memory Decline in African Populations: Data from the READD–ADSP Project
Behavioral and Psychological Symptoms of Dementia as a Clinical Indicator of Disease Severity and Memory Decline in African Populations: Data from the READD–ADSP Project Open
Background BPSD are common in persons living with dementia and are often associated with disease severity and caregivers’ distress. In Low‐ and Middle‐Income Countries, they are often the symptom complex that compel family to seek medical …
View article: Genetic covariance analysis of Alzheimer's disease and stroke implicates <i>PHLPP1</i> as a shared locus in individuals of African ancestry
Genetic covariance analysis of Alzheimer's disease and stroke implicates <i>PHLPP1</i> as a shared locus in individuals of African ancestry Open
Background Neuropathological and neuroimaging studies indicate that cerebrovascular disease (CVD) is a major risk factor for Alzheimer's disease (AD), yet the molecular mechanisms underlying the association between the two traits remain un…
View article: Application of supervised and unsupervised machine learning approaches to identify somatic T‐cell receptor sequence variation in Alzheimer disease among Midwestern Amish
Application of supervised and unsupervised machine learning approaches to identify somatic T‐cell receptor sequence variation in Alzheimer disease among Midwestern Amish Open
Background Late‐onset Alzheimer disease (LOAD) is the most common form of dementia among adults ≥65 years of age. Known risk factors include female sex, increased age, mild cognitive impairment (MCI), and LOAD‐associated genetic risk allel…
View article: Developing biobanking processes for Alzheimer's disease and related dementia research in Africa: Experience from the Recruitment and Retention for Alzheimer's Disease Diversity in the Alzheimer's Disease Sequencing Project (READD‐ADSP)
Developing biobanking processes for Alzheimer's disease and related dementia research in Africa: Experience from the Recruitment and Retention for Alzheimer's Disease Diversity in the Alzheimer's Disease Sequencing Project (READD‐ADSP) Open
The Recruitment and Retention for Alzheimer's Disease Diversity in the Alzheimer's Disease Sequencing Project (READD‐ADSP) aims to recruit 5000 African participants (Alzheimer's disease [AD] and cognitively unimpaired controls) to generate…
View article: Recruitment and Retention for Alzheimer's Disease Diversity Genetic Cohorts in the ADSP (READD‐ADSP): A global effort to identify genetic factors in Alzheimer's disease
Recruitment and Retention for Alzheimer's Disease Diversity Genetic Cohorts in the ADSP (READD‐ADSP): A global effort to identify genetic factors in Alzheimer's disease Open
INTRODUCTION Alzheimer's disease (AD) remains a major neurocognitive disorder of global health significance. Globalizing ancestral diversity in AD genetics is essential to identify causal variants, improve diagnosis, and enable equitable t…
View article: A disease-specific convergence of host and Epstein–Barr virus genetics in multiple sclerosis
A disease-specific convergence of host and Epstein–Barr virus genetics in multiple sclerosis Open
Recent sero-epidemiological studies have strengthened the hypothesis that Epstein–Barr virus (EBV) may be a causal factor in multiple sclerosis (MS). Given the complexity of the EBV–host interaction, various mechanisms may be responsible f…
View article: Genetic determinants of Multiple Sclerosis susceptibility in diverse ancestral backgrounds
Genetic determinants of Multiple Sclerosis susceptibility in diverse ancestral backgrounds Open
The genetic architecture of Multiple Sclerosis (MS) susceptibility has been extensively assessed in populations of European ancestry. Greater ancestral diversity in genetic analyses of MS susceptibility is needed to improve the utility of …
View article: Eleven Grand Challenges for Inflammatory Bowel Disease Genetics and Genomics
Eleven Grand Challenges for Inflammatory Bowel Disease Genetics and Genomics Open
The past 2 decades have witnessed extraordinary advances in our understanding of the genetic factors influencing inflammatory bowel disease (IBD), providing a foundation for the approaching era of genomic medicine. On behalf of the NIDDK I…
View article: Challenges of Recruiting Persons with Alzheimer’s Dementia (AD) for Genetic Studies in Selected African Countries on the African Dementia Consortium (AfDC)
Challenges of Recruiting Persons with Alzheimer’s Dementia (AD) for Genetic Studies in Selected African Countries on the African Dementia Consortium (AfDC) Open
Background Understanding the genetic underpinnings of Alzheimer’s disease is crucial for advancing research and developing targeted interventions. Genomic research in dementia in Africa is of utmost importance based on recent reports from …
View article: Biobanking and Collaborative Multicenter AD Research in Africa: Preliminary Experience from the Recruitment and Retention for Alzheimer’s Disease Diversity Genetic Cohorts in the Alzheimer’s Disease Sequencing Project
Biobanking and Collaborative Multicenter AD Research in Africa: Preliminary Experience from the Recruitment and Retention for Alzheimer’s Disease Diversity Genetic Cohorts in the Alzheimer’s Disease Sequencing Project Open
Background The burden of Alzheimer’s disease and related dementias is growing fast in Africa. The Recruitment and Retention for Alzheimer’s Disease Diversity Genetic Cohorts in the Alzheimer’s Disease Sequencing Project (READD‐ADSP) has co…
View article: Building a Digital Health Research Platform to Enable Recruitment, Enrollment, Data Collection, and Follow-Up for a Highly Diverse Longitudinal US Cohort of 1 Million People in the All of Us Research Program: Design and Implementation Study
Building a Digital Health Research Platform to Enable Recruitment, Enrollment, Data Collection, and Follow-Up for a Highly Diverse Longitudinal US Cohort of 1 Million People in the All of Us Research Program: Design and Implementation Study Open
Background Longitudinal cohort studies have traditionally relied on clinic-based recruitment models, which limit cohort diversity and the generalizability of research outcomes. Digital research platforms can be used to increase participant…
View article: Multiple sclerosis in Colombia: A review of the literature
Multiple sclerosis in Colombia: A review of the literature Open
Background The prevalence of multiple sclerosis (MS) in Latin America is generally considered low to moderate. However, accurate data regarding MS epidemiology in Colombia is lacking. Objective This study aims to discuss the situation of M…
View article: The NeuroBioBank Whole-Genome Catalog: Sequencing from human brain donors with central nervous system disorders
The NeuroBioBank Whole-Genome Catalog: Sequencing from human brain donors with central nervous system disorders Open
Central nervous system diseases are a prevailing cause of morbidity and mortality worldwide, and are influenced by environmental and biological factors including genetic risk. Here we generated genome-wide genetic data on a large cohort of…
View article: Building a Digital Health Research Platform to Enable Recruitment, Enrollment, Data Collection, and Follow-Up for a Highly Diverse Longitudinal US Cohort of 1 Million People in the All of Us Research Program: Design and Implementation Study (Preprint)
Building a Digital Health Research Platform to Enable Recruitment, Enrollment, Data Collection, and Follow-Up for a Highly Diverse Longitudinal US Cohort of 1 Million People in the All of Us Research Program: Design and Implementation Study (Preprint) Open
BACKGROUND Longitudinal cohort studies have traditionally relied on clinic-based recruitment models, which limit cohort diversity and the generalizability of research outcomes. Digital research platforms can be used to increase participan…
View article: Association Between Body Mass Index and Functional Outcomes in Patients With Intracerebral Hemorrhage
Association Between Body Mass Index and Functional Outcomes in Patients With Intracerebral Hemorrhage Open
We demonstrated that a higher BMI is associated with decreased mortality, improved functional outcomes, and better self-reported health status at 90 days, thus supporting the paradoxical role of obesity in patients with ICH. The beneficial…
View article: Deep Resequencing of the <i>1q22</i> Locus in Non‐Lobar Intracerebral Hemorrhage
Deep Resequencing of the <i>1q22</i> Locus in Non‐Lobar Intracerebral Hemorrhage Open
Objective Genome‐wide association studies have identified 1q22 as a susceptibility locus for cerebral small vessel diseases, including non‐lobar intracerebral hemorrhage (ICH) and lacunar stroke. In the present study, we performed targeted…
View article: Patients’ views on HCC biospecimen research: Understanding the role of race and culture through interviews
Patients’ views on HCC biospecimen research: Understanding the role of race and culture through interviews Open
Background: HCC is a leading cause of cancer-related mortality; there are significant racial and ethnic disparities in HCC risk and survival. Our knowledge regarding whether molecular and genetic factors contribute to these observed differ…
View article: Deep resequencing of the 1q22 locus in non-lobar intracerebral hemorrhage
Deep resequencing of the 1q22 locus in non-lobar intracerebral hemorrhage Open
Objective Genome-wide association studies have identified 1q22 as a susceptibility locus for cerebral small vessel diseases (CSVDs), including non-lobar intracerebral hemorrhage (ICH) and lacunar stroke. In the present study we performed t…
View article: Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population
Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population Open
The Major Histocompatibility Complex (MHC) makes the largest genetic contribution to multiple sclerosis (MS) susceptibility, with 32 independent effects across the region explaining 20% of the heritability in European populations. Variatio…
View article: Investigation of hypertension and type 2 diabetes as risk factors for dementia in the All of Us cohort
Investigation of hypertension and type 2 diabetes as risk factors for dementia in the All of Us cohort Open
The World Health Organization recently defined hypertension and type 2 diabetes (T2D) as modifiable comorbidities leading to dementia and Alzheimer’s disease. In the United States (US), hypertension and T2D are health disparities, with hig…
View article: Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data
Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data Open
This work aimed at estimating narrow-sense heritability, defined as the proportion of the phenotypic variance explained by the sum of additive genetic effects, via Haseman–Elston regression for a subset of 56 plasma protein levels related …
View article: Initial antihypertensive agent effects on acute blood pressure after intracerebral haemorrhage
Initial antihypertensive agent effects on acute blood pressure after intracerebral haemorrhage Open
Introduction Current guidelines recommend blood pressure (BP) lowering in patients after acute intracerebral haemorrhage (ICH) without guidance on initial choice of antihypertensive class. This study sought to determine if initial antihype…
View article: Risk Factors Associated With Mortality and Neurologic Disability After Intracerebral Hemorrhage in a Racially and Ethnically Diverse Cohort
Risk Factors Associated With Mortality and Neurologic Disability After Intracerebral Hemorrhage in a Racially and Ethnically Diverse Cohort Open
The findings of this cohort study validate ICH score elements and suggest additional baseline and interim patient characteristics were associated with variation in 3-month outcome.