Adam C. Naj
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View article: Monocyte inflammation and resilience to Alzheimer’s disease: novel genetic risk genes identified by transcriptome-wide association study
Monocyte inflammation and resilience to Alzheimer’s disease: novel genetic risk genes identified by transcriptome-wide association study Open
View article: Multi-ancestry Transcriptome-Wide Association Study Reveals Shared and Population-Specific Genetic Effects in Alzheimer’s Disease
Multi-ancestry Transcriptome-Wide Association Study Reveals Shared and Population-Specific Genetic Effects in Alzheimer’s Disease Open
Alzheimer’s disease (AD) risk differs across ancestral populations, yet most genetic studies have focused on Non-Hispanic White (NHW) cohorts. We conducted a multi-population transcriptome-wide association study (TWAS) using whole-blood RN…
View article: Genome‐wide association studies of TDP‐43 proteinopathy and hippocampal sclerosis reveal shared genetic associations with APOE and TMEM106B
Genome‐wide association studies of TDP‐43 proteinopathy and hippocampal sclerosis reveal shared genetic associations with APOE and TMEM106B Open
INTRODUCTION Transactive response DNA binding protein 43 kDa (TDP‐43) proteinopathy has been linked to cognitive decline and often co‐occurs with hippocampal sclerosis (HS). To identify genetic markers of TDP‐43 proteinopathy and HS, we pe…
View article: W21. SHARED GENETIC ARCHITECTURE OF EARLY-LIFE NEURODEVELOPMENTAL CONDITIONS AND LATE-LIFE NEURODEGENERATIVE DISEASES
W21. SHARED GENETIC ARCHITECTURE OF EARLY-LIFE NEURODEVELOPMENTAL CONDITIONS AND LATE-LIFE NEURODEGENERATIVE DISEASES Open
View article: Multi‐ancestry meta‐analysis identifies genetic modifiers of age‐at‐onset of Alzheimer's disease at known and novel loci
Multi‐ancestry meta‐analysis identifies genetic modifiers of age‐at‐onset of Alzheimer's disease at known and novel loci Open
INTRODUCTION Much of Alzheimer's disease (AD) risk is explained by age, apolipoprotein E ( APOE ) genotype, and sex. We sought to identify genetic modifiers of age at onset (AAO) of AD while probing the influence of sex and APOE among thos…
View article: Sex-Specific Genetic Drivers of Memory, Executive Functioning, and Language Performance in Older Adults
Sex-Specific Genetic Drivers of Memory, Executive Functioning, and Language Performance in Older Adults Open
We previously identified sex-specific genetic loci associated with memory performance, a strong Alzheimer’s disease (AD) endophenotype. Here, we expand on this work by conducting sex-specific, cross-ancestral, genome-wide meta-analyses of …
View article: Evaluating the association of<i>APOE</i>genotype and cognitive resilience in SuperAgers
Evaluating the association of<i>APOE</i>genotype and cognitive resilience in SuperAgers Open
INTRODUCTION “SuperAgers” are oldest-old adults (ages 80+) whose memory performance more closely resembles middle-aged adults. The present study examined APOE allele frequency in non-Hispanic Black (NHB) and non-Hispanic White (NHW) SuperA…
View article: Alzheimer’s Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset
Alzheimer’s Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset Open
The Alzheimer’s Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer’s Disease and Related Dementias (AD/ADRD) by sequencing whole genomes of affected participants and age-matched c…
View article: X‐chromosome-wide association study for Alzheimer’s disease
X‐chromosome-wide association study for Alzheimer’s disease Open
Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer’s Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth X…
View article: Genomic Frontiers in Alzheimer’s Research: A Primer on the Alzheimer’s Disease Sequencing Project (ADSP) and its AI/ML Opportunities
Genomic Frontiers in Alzheimer’s Research: A Primer on the Alzheimer’s Disease Sequencing Project (ADSP) and its AI/ML Opportunities Open
Background In this introductory talk, we embark on a journey of through the genomic frontiers of Alzheimer’s research via the revolutionary Alzheimer’s Disease Sequencing Project (ADSP). Method ADSP integrates together various components t…
View article: ADSP Whole Genome Sequencing (WGS) Release 5 data update from Genome Center for Alzheimer’s Disease
ADSP Whole Genome Sequencing (WGS) Release 5 data update from Genome Center for Alzheimer’s Disease Open
Background The Genome Center for Alzheimer’s Disease (GCAD) coordinates the integration and meta‐analysis of all available Alzheimer’s disease (AD) relevant whole genome sequencing (WGS) data to facilitate the goal of identifying AD risk o…
View article: Somatic Loss of the Y Chromosome and Alzheimer’s Disease Risk
Somatic Loss of the Y Chromosome and Alzheimer’s Disease Risk Open
Background Mosaic loss of the Y chromosome (LOY) is a somatic, age‐related event that has been previously associated with a variety of diseases of aging. A prior study of European cohorts demonstrated an association between LOY and Alzheim…
View article: Evaluating the association between <i>APOE</i> genotypes and cognitive resilience in SuperAgers
Evaluating the association between <i>APOE</i> genotypes and cognitive resilience in SuperAgers Open
Background “SuperAgers” are older adults (ages 80+) whose cognitive performance resembles that of adults in their 50s to mid‐60s. Factors underlying their exemplary aging are underexplored in large, racially diverse cohorts. Using eight co…
View article: Preliminary Insights from a Multi‐Ancestry TWAS in Alzheimer’s Disease in African and European Populations
Preliminary Insights from a Multi‐Ancestry TWAS in Alzheimer’s Disease in African and European Populations Open
Background Recent advances in Alzheimer’s Disease (AD) research have emphasized the importance of recruiting from diverse populations. Notably, African‐descent individuals have an almost doubled risk of developing AD compared to European‐d…
View article: NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS)
NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) Open
Background NIAGADS is a national genomics data repository that facilitates access of genotypic and sequencing data to qualified investigators for the study of the genetics of Alzheimer’s disease (AD) and related neurological diseases. Coll…
View article: The Alzheimer’s Disease Sequencing Project – Discovery, Discovery Extension and Follow Up Study (ADSP‐FUS): <i>APOE</i> genotype status and demographic characteristics across datasets
The Alzheimer’s Disease Sequencing Project – Discovery, Discovery Extension and Follow Up Study (ADSP‐FUS): <i>APOE</i> genotype status and demographic characteristics across datasets Open
Background The ADSP is a National Institute on Aging (NIA) initiative focused on identifying genetic risk and protective variants for Alzheimer Disease (AD). Initial phases (Discovery and Discovery Extension) were predominantly non‐Hispani…
View article: Cross‐Ancestry Meta‐Analysis of <i>APOE‐ε4</i> Stratified GWAS of Longitudinal Cognitive Decline in Older Adults
Cross‐Ancestry Meta‐Analysis of <i>APOE‐ε4</i> Stratified GWAS of Longitudinal Cognitive Decline in Older Adults Open
Background The Apolipoprotein E ε4 ( APOE ‐ε4) allele is common in the population, but acts as the strongest genetic risk factor for late‐onset Alzheimer’s disease (AD). Despite the strength of the association, there is notable heterogenei…
View article: Brain and Blood Transcriptome‐Wide Association Studies Identify Three Novel Genes Associated with Cognitive Resilience
Brain and Blood Transcriptome‐Wide Association Studies Identify Three Novel Genes Associated with Cognitive Resilience Open
Background While there are numerous genome‐wide association studies (GWAS) assessing the genetic basis of Alzheimer’s disease (AD), there are far fewer studies examining genetic factors for cognitive and global resilience to AD neuropathol…
View article: Multi‐ancestry whole genome sequencing analysis of 36,361 individuals from the Alzheimer’s Disease Sequencing Project (ADSP)
Multi‐ancestry whole genome sequencing analysis of 36,361 individuals from the Alzheimer’s Disease Sequencing Project (ADSP) Open
Background The Alzheimer’s Disease Sequencing Project (ADSP) aims to identify genetic variation contributing to the development or protection of Alzheimer’s disease (AD) in diverse ancestral populations. The latest ADSP whole genome sequen…
View article: Author Correction: Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes
Author Correction: Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes Open
View article: Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole‐genome sequencing from the Alzheimer's Disease Sequencing Project
Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole‐genome sequencing from the Alzheimer's Disease Sequencing Project Open
INTRODUCTION Alzheimer's disease (AD) is a common disorder of the elderly that is both highly heritable and genetically heterogeneous. METHODS We investigated the association of AD with both common variants and aggregates of rare coding an…
View article: Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy Open
View article: NIAGADS: A Comprehensive National Data Repository for Alzheimer’s Disease and Related Dementia Genetics and Genomics Research
NIAGADS: A Comprehensive National Data Repository for Alzheimer’s Disease and Related Dementia Genetics and Genomics Research Open
NIAGADS is the National Institute on Aging (NIA) designated national data repository for human genetics research on Alzheimer’s Disease and related dementia (ADRD). NIAGADS maintains a high-quality data collection for ADRD genetic/genomic …
View article: Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes Open
View article: Global Framework for Scientific Event: A 32-Country and 118-Expert Collaborative Effort
Global Framework for Scientific Event: A 32-Country and 118-Expert Collaborative Effort Open
Introduction Despite numerous efforts to define and categorize scientific events, a consensus remains elusive, complicating the understanding and classification of such events. The current study aims to establish clear, consensus-based def…
View article: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy Open
View article: Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracell signaling pathways
Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracell signaling pathways Open
Alzheimer Disease (AD) is a highly polygenic disease that presents with relatively earlier onset (≤70yo; EOAD) in about 5% of cases. Around 90% of these EOAD cases remain unexplained by pathogenic mutations. Using data from EOAD cases and …
View article: Author response: Biobank-wide association scan identifies risk factors for late-onset Alzheimer’s disease and endophenotypes
Author response: Biobank-wide association scan identifies risk factors for late-onset Alzheimer’s disease and endophenotypes Open
View article: Brain and Blood Transcriptome-Wide Association Studies Identify Five Novel Genes Associated with Alzheimer’s Disease
Brain and Blood Transcriptome-Wide Association Studies Identify Five Novel Genes Associated with Alzheimer’s Disease Open
INTRODUCTION Transcriptome-wide Association Studies (TWAS) extend genome-wide association studies (GWAS) by integrating genetically-regulated gene expression models. We performed the most powerful AD-TWAS to date, using summary statistics …
View article: Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and<i>MAPT</i>Sub-haplotypes
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and<i>MAPT</i>Sub-haplotypes Open
Importance The chromosome 17q21.31 region, containing a 900 Kb inversion that defines H1 and H2 haplotypes, represents the strongest genetic risk locus in progressive supranuclear palsy (PSP). In addition to H1 and H2, various structural f…