The paper uses machine learning to predict autopsy-confirmed neuropathology from clinical, neuroimaging, and CSF biomarkers, finding that different modalities best predict specific pathologies.

bioRxiv · May 23, 2026 · PreprintNeuroscience

Brain Cell-based Genetic Subtyping and Drug Repositioning for Alzheimer Disease

Nathan J Sahelijo, Priya Rajagopalan, Qian Lu, Rufuto Rahman, Dhawal Priyadarshi, Daniel Goldstein, Sophia I. Thomopoulos, David A. Bennett, Lindsay A. Farrer, Thor D. Stein, Li Shen, Heng Huang, Kwangsik T. Nho, Andrew J. Saykin, Christos A. Davatzikos, , Gyungah Jun

This study identifies genetic subtypes of Alzheimer's Disease using cell-based gene networks and polygenic risk scores, then repositions existing drugs for AD treatment.

medRxiv · Jun 21, 2024 · PreprintGenetic & Genomic Medicine

Alzheimer Disease Heterogeneity Explained by Polygenic Risk Scores Derived from Brain Transcriptomic Profiles

Jaeyoon Chung, Nathan J Sahelijo, Toru Maruyama, Junming Hu, Rebecca Panitch, Weiming Xia, Jesse B Mez, Thor D. Stein, the Alzheimer's Disease Neuroimaging Initiative, Andrew J. Saykin, Haruko Takeyama, Lindsay A. Farrer, Paul K. Crane, Kwangsik T. Nho, Gyungah Jun

This study uses polygenic risk scores derived from brain transcriptomic profiles to explain clinical heterogeneity in Alzheimer's disease.

Alzheimer s & Dementia · May 11, 2023Peer-reviewedGenetic & Genomic Medicine

African Ancestry GWAS of Dementia in a Large Military Cohort Identifies Significant Risk Loci

Richard Sherva, Rui Zhang, Nathan J Sahelijo, Gyungah Jun, Tori R. Anglin-Foote, Catherine Chanfreau, Kelly Cho, Jennifer R. Fonda, J. Michael Gaziano, Kelly M. Harrington, Yuk-Lam Anne Ho, William S. Kremen, ELIZABETH M. LITKOWSKI, Julie Ann Lynch, Zoe E. Neale, , Mark W. Logue

This study performs a GWAS of dementia in African-ancestry individuals, identifying risk loci and highlighting differences in gene expression.

Molecular Psychiatry · Dec 21, 2022Peer-reviewedGenetic & Genomic Medicine

APOE Genotype-specific Methylation Patterns are Linked to Alzheimer Disease Pathology and Estrogen Response

Rebecca Panitch, Nathan J Sahelijo, Junming Hu, the Alzheimer’s Disease Neuroimaging Initiative, Kwangsik T. Nho, David Alan Bennett, Kathryn L. Lunetta, Rhoda Au, Thor D. Stein, Lindsay A. Farrer, Gyungah Jun

This study identifies APOE genotype-specific methylation patterns in blood and brain linked to Alzheimer's disease and estrogen response.

medRxiv · Dec 20, 2022 · PreprintGenetic & Genomic Medicine

Manifestations of genetic risk for Alzheimer's Disease in the blood: a cross-sectional multi-omic analysis in healthy adults aged 18-90+

Laura M. Heath, John C. Earls, Andrew T. Magis, Sergey A. Kornilov, Jennifer C. Lovejoy, Cory C. Funk, Noa Rappaport, Benjamin A. Logsdon, Lara M. Mangravite, Brian W. Kunkle, Eden R. Martin, Adam Christian Naj, Nilüfer Ertekin‐Taner, Todd Eliot Golde, Leroy Hood, , Jeffrey Alan Kaye

This study identifies blood-based biomarkers associated with Alzheimer's disease genetic risk variants in a large cohort of healthy adults, showing effects from early adulthood and sex-specific patterns.

Scientific Reports · Apr 12, 2022Peer-reviewedGenetics

Protein phosphatase 2A, complement component 4, and APOE genotype linked to Alzheimer disease using a systems biology approach

Gyungah Jun, Yang You, Congcong Zhu, Gaoyuan Meng, Jaeyoon Chung, Rebecca Panitch, Junming Hu, Weiming Xia, David Alan Bennett, Tatiana Foroud, Weixin Wang, Jonathan L. Haines, Richard P Mayeux, Margaret Ann Pericak‐Vance, Gerard D. Schellenberg, , Lindsay A. Farrer

This paper identifies PPP2CB and C4B as key genes linked to Alzheimer's disease through a systems biology approach, showing their association with tau pathology and complement pathway activation.

Alzheimer s & Dementia · Feb 9, 2022Peer-reviewedGenetic & Genomic Medicine

Integrative Brain Transcriptome Analysis Links Complement Component 4 and HSPA2 to the APOE ε2 Protective Effect in Alzheimer Disease

Rebecca Panitch, Junming Hu, Jaeyoon Chung, Congcong Zhu, Gaoyuan Meng, Weiming Xia, David Alan Bennett, Kathryn L. Lunetta, Tsuneya Ikezu, Rhoda Au, Thor D. Stein, Lindsay A. Farrer, Gyungah Jun

The paper identifies a co-expression network involving C4A, C4B, and HSPA2 linked to APOE ε2's protective effect against Alzheimer's disease, primarily associated with tau pathology.

Molecular Psychiatry · Sep 3, 2021Peer-reviewedGenetic & Genomic Medicine