Badri Narayan Vardarajan

Comprehensive adjudication identifies 111 high-confidence loci for Alzheimer's disease and related dementias

The paper systematically adjudicates genetic evidence for Alzheimer's disease and related dementias, identifying 111 high-confidence loci through a tiered framework applied to large-scale genome-wide studies.

APOE-ϵ4-induced Fibronectin at the blood-brain barrier is a conserved pathological mediator of disrupted astrocyte-endothelia interaction in Alzheimer's disease

This paper identifies APOE-ϵ4-induced fibronectin accumulation at the blood-brain barrier as a key mediator of astrocyte-endothelial dysfunction in Alzheimer's disease, highlighting it as a potential therapeutic target.

CD33 and Clusterin Interact Biophysically and Genetically to Modulate Alzheimer Risk

This study shows how non-coding variants in CD33 affect Alzheimer's risk by altering CD33M dimerization and interactions with clusterin and Aβ, impacting microglial function.

Somatic mutations reveal the ontogeny of human microglia

This study uses somatic mutations to track marrow-derived cell infiltration into the human brain, finding widespread microglia replenishment and a protective link between clonal hematopoiesis and Alzheimer's disease.

Multi-omics characterization of vascular, neurodegenerative, and mixed neuropathology in the aging human brain

This study identifies molecular programs distinguishing vascular, neurodegenerative, and mixed pathology in aging human brains using proteomic and transcriptomic data.

Isogenic cortical organoids enable precision targeting of APP variant-specific pathways in Alzheimer's disease

The paper uses isogenic cortical organoids to identify variant-specific pathogenic pathways in Alzheimer's disease and demonstrates targeted interventions that restore neuronal survival.

CoxMDS: Multiple Data Splitting for High-dimensional Mediation Analysis with Survival Outcomes in Epigenome-wide Studies

CoxMDS identifies causal mediators in DNA methylation studies with survival outcomes, maintaining FDR control and higher power than existing methods.

Genetic Regulation of the Metabolome Differs by Sex, Alzheimer's Disease Stage, and Plasma Biomarker Status

The paper identifies sex- and Alzheimer's disease stage-specific genetic regulators of plasma metabolites and their associations with biomarkers.

TPClust: Temporal Profile-Guided Subtyping Using High-Dimensional Omics Data

TPClust integrates longitudinal phenotypes with high-dimensional omics data to identify subtypes with distinct cognitive trajectories and risk profiles in aging populations.

A Specialized Reference Panel with Structural Variants Integration for Improving Genotype Imputation in Alzheimer's Disease and Related Dementias (ADRD)

The paper develops an imputation panel integrating structural variants for Alzheimer's disease and related dementias, improving genotype imputation and identifying new genetic associations.

CD33-CD45 Interaction Reveals a Mechanistic Link to Alzheimer's Disease Susceptibility

This study identifies CD45 as a sialic acid-dependent binding partner of CD33, showing that their interaction contributes to Alzheimer's disease susceptibility through impaired microglial function.

Sex-Specific Genetic Drivers of Memory, Executive Functioning, and Language Performance in Older Adults

The paper identifies sex-specific genetic loci associated with memory, executive functioning, and language performance in older adults through genome-wide meta-analyses.

Biological Age and Age Acceleration Predict Alzheimer's Disease Plasma Biomarker Levels

The paper shows biological age and age acceleration in blood predict Alzheimer's disease plasma biomarker levels in a Hispanic cohort.

Alzheimer's Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset

The paper provides a whole-genome sequencing dataset of 36,361 ADSP participants, including variant annotations, phenotypes, and a linkage disequilibrium panel for Alzheimer's Disease research.

Polygenic burden of short tandem repeat expansions promote risk for Alzheimer's disease

The paper assesses the role of short tandem repeat (STR) expansions in Alzheimer's disease risk by analyzing genome-wide STR data from 2,981 individuals.

Evaluating the association of APOE genotype and cognitive resilience in SuperAgers

This study examines the association between APOE genotype and cognitive resilience in SuperAgers, finding lower APOE-ε4 and higher APOE-ε2 frequencies in non-Hispanic White SuperAgers compared to controls and Alzheimer's cases.

Missense and Loss of Function Variants at GWAS Loci in Familial Alzheimer's Disease

The paper examines rare missense and loss of function variants in GWAS loci for Alzheimer's disease across families, finding that many families lack identifiable variants beyond APOE-e4.

ABCA7-dependent Neuropeptide-Y signalling is a resilience mechanism required for synaptic integrity in Alzheimer's disease

This study identifies ABCA7-dependent neuropeptide Y signaling as a resilience mechanism critical for synaptic integrity and its disruption as a risk factor for Alzheimer's disease.

A Novel Gene ARHGAP44 for Longitudinal Changes in Glycated Hemoglobin (HbA1c) in Subjects without Type 2 Diabetes: Evidence from the Long Life Family Study (LLFS) and the Framingham Offspring Study (FOS)

The paper identifies ARHGAP44 as a novel gene associated with longitudinal changes in HbA1c in non-diabetic individuals using linkage and sequence analysis from two studies.

Rare genetic variation in Fibronectin 1 (FN1) protects against APOEe4 in Alzheimer's disease

The paper identifies rare FN1 variants that protect APOEε4 carriers from Alzheimer's disease by modulating extracellular matrix deposition and gliosis.

Polygenic Risk Associated with Alzheimer's Disease and Other Traits Influences Genes Involved in T Cell Signaling and Activation

The paper computes polygenic risk scores for various disorders and correlates them with T cell gene expression in Alzheimer's patients and controls, identifying gene pathways related to T cell signaling and activation.

MU-BRAIN: MUltiethnic Brain Rna-seq for Alzheimer INitiative

The paper analyzes bulk RNA-seq data from diverse ethnic groups to identify differentially expressed genes and pathways in Alzheimer's Disease, highlighting cross-ethnic and ethnic-specific findings.

Multi-omics Characterization of Epigenetic and Genetic Risk of Alzheimer Disease in Autopsied Brains from two Ethnic Groups

The paper identifies six genetic loci associated with Alzheimer's disease in Hispanics, showing both genetic and epigenetic risks, with some downstream effects on mRNA expression being ethnicity-specific.

ZCCHC17 modulates neuronal RNA splicing and supports cognitive resilience in Alzheimer's disease

This study shows ZCCHC17 regulates RNA splicing in neurons and its dysfunction contributes to splicing abnormalities in Alzheimer's disease, with potential therapeutic implications.

Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects

The paper identifies structural variations in whole-genome sequencing data from 16,905 ADSP subjects and finds associations with Alzheimer's disease and related endophenotypes.

Ngfr suppresses Lcn2/Slc22a17 signaling, induces neurogenesis and reduces amyloid pathology in the hippocampus of APP/PS1dE9 mouse

The paper shows that Ngfr promotes neurogenesis and reduces amyloid pathology in AD mouse models by suppressing Lcn2/Slc22a17 signaling.

A Haptoglobin (HP) Structural Variant Alters the Effect of APOE Alleles on Alzheimer's Disease

The paper investigates how a haptoglobin structural variant modifies the effect of APOE alleles on Alzheimer's disease risk and age of onset in European-descent and African American populations.

Identification and Validation of New Molecular Subtypes within the Early and Late Mild Cognitive Impairment Stages of Alzheimer's Disease

This study identifies and validates two molecular subtypes within early and late mild cognitive impairment stages of Alzheimer's disease using integrated metabolomics and transcriptomics data.

Deciphering causal proteins in Alzheimer's disease: A novel Mendelian randomization method integrated with AlphaFold3 for 3D structure prediction

The paper develops MR-SPI, a Mendelian randomization method integrated with AlphaFold3 to identify causal protein biomarkers and predict 3D structural changes in Alzheimer's disease.

Cell-subtype specific effects of genetic variation in the aging and Alzheimer cortex

The paper identifies cell-type and cell-subtype specific eQTLs in aging human cortex, revealing variant effects on gene expression and disease associations.