This paper investigates the impact of an ancestry-specific ABCA7 deletion on lipid homeostasis in Alzheimer's disease, showing disrupted lipid regulation in neurons.

Alzheimer s & Dementia · Mar 30, 2026Peer-reviewedNeuroscience

Heritability of Alzheimer-related plasma biomarkers in the Amish population

Ping Wang, Yeunjoo E. Song, Audrey Lynn, Kristy L. S. Miskimen, Alex V. Gulyayev, Michael B. Prough, Daniel A. Dorfsman, Reneé A. Laux, Sarada L. Fuzzell, Sherri D. Hochstetler, Andrew F. Zaman, Larry Deon Adams, Laura J. Caywood, Jason E. Clouse, Sharlene D. Herington, , Jonathan L. Haines

The paper estimates heritability of Alzheimer-related plasma biomarkers in the Amish population, finding moderate genetic contributions to biomarker variances.

medRxiv · May 13, 2025 · PreprintGenetic & Genomic Medicine

African origin haplotype protective for Alzheimer's disease in APOEϵ4 carriers: exploring potential mechanisms

Luciana Bertholim Nasciben, Karen Nuytemans, Derek Van Booven, Farid Rajabli, Sofia Moura, Aura María Ramírez, Derek Michael Dykxhoorn, Liyong Wang, William K. Scott, David A. Davis, Regina Vontell, Katalina McInerney, Michael L. Cuccaro, Goldie S. Byrd, Jonathan L. Haines, , Jeffery M. Vance

The paper identifies an African-origin haplotype that reduces AD risk in APOEε4 carriers by 75% and explores its molecular mechanisms through sequencing and methylation analysis.

bioRxiv · Oct 24, 2024 · PreprintGenetics

Gene expression and chromatin accessibility comparison in iPSC-derived microglia in African, European, and Amerindian genomes in Alzheimer's patients and controls.

Sofia Moura, Luciana Bertholim Nasciben, Aura María Ramírez, Lauren E. Coombs, Joe Rivero, Derek J. Van Booven, Brooke A. DeRosa, Kara L. Hamilton‐Nelson, Patrice L. Whitehead, Larry Deon Adams, Takiyah D. Starks, Pedro Ramon Mena, Maryenela Illanes‐Manrique, Sergio J. Tejada, Goldie S. Byrd, , Jeffery M. Vance

bioRxiv · Aug 27, 2024 · PreprintGenomics

A genome-wide association study in Peruvians suggests new risk loci for Alzheimer Disease

Bilçağ Akgün, Mario Cornejo‐Olivas, Nilton Custodio, Pedro Ramon Mena, Marcio Soto‐Añari, Rosa Montesinos, Larry Deon Adams, Katrina Celis, Zikun Yang, Basilio Cieza Huaman, Dolly Reyes‐Dumeyer, Joe Rivero, Patrice G. Whitehead, Kara L. Hamilton‐Nelson, Liyong Wang, , Giuseppe Tosto

This study conducts a GWAS in Peruvians, identifying a novel AD risk locus in NFASC and replicating known loci, highlighting the importance of diverse populations in AD genetics.

medRxiv · Nov 29, 2023 · PreprintGenetic & Genomic Medicine

An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons

Holly N. Cukier, Carolina L. Duarte, Mayra Juliana Laverde-Paz, Shaina A. Simon, Derek J. Van Booven, Amanda T. Miyares, Patrice L. Whitehead, Kara L. Hamilton‐Nelson, Larry Deon Adams, Regina M. Carney, Michael L. Cuccaro, Jeffery M. Vance, Margaret Ann Pericak‐Vance, Anthony J. Griswold, Derek Michael Dykxhoorn

Neurobiology of Aging · Jul 17, 2023Peer-reviewedGenetics

African ancestry APOE e4 non-carriers with higher educational attainment are resilient to Alzheimer disease pathology-specific blood biomarker pTau181.

Farid Rajabli, Azizi A Seixas, Bilçağ Akgün, Larry Deon Adams, Jovita D. Inciute, Takiyah D. Starks, Reneé A. Laux, Goldie S. Byrd, Jonathan L. Haines, Gary W. Beecham, Jeffery M. Vance, Michael L. Cuccaro, Margaret Ann Pericak‐Vance

This study finds that higher educational attainment in African ancestry individuals with AD pathology and APOE e4 non-carriers is associated with greater functional resilience.

medRxiv · Jul 6, 2023 · PreprintGenetic & Genomic Medicine

Genetic variants in the SHISA6 gene are associated with delayed cognitive impairment in two family datasets

Jairo D. Ramos, Laura J. Caywood, Michael B. Prough, Jason E. Clouse, Sharlene D. Herington, Susan H. Slifer, M. Denise Fuzzell, Sarada L. Fuzzell, Sherri D. Hochstetler, Kristy L. S. Miskimen, Leighanne R. Main, Michael D. Osterman, Owen Laframboise, Andrew F. Zaman, Patrice L. Whitehead, , William K. Scott

The paper identifies three SNVs associated with delayed age at onset of cognitive impairment in Amish populations, with one replicated in an independent dataset and linked to the SHISA6 gene.

Alzheimer s & Dementia · May 1, 2022Peer-reviewedGenetic & Genomic Medicine

Dissecting the role of Amerindian genetic ancestry and ApoE ε4 allele on Alzheimer disease in an admixed Peruvian population

Maria Victoria Marca-Ysabel, Farid Rajabli, Mario Cornejo‐Olivas, Patrice G. Whitehead, Natalia K. Hofmann, Maryenela Illanes‐Manrique, Diego M. Véliz-Otani, Karina Milla‐Neyra, Sheila Castro‐Suárez, María Meza-Vega, Larry Deon Adams, Pedro Ramon Mena, Rosario M. Isasi, Michael L. Cuccaro, Jeffery M. Vance, , Margaret Ann Pericak‐Vance

This study examines the association between ApoE ε4 allele and Alzheimer's disease in a Peruvian population with high Amerindian ancestry, finding a stronger risk effect compared to non-Hispanic White populations.

Neurobiology of Aging · Dec 10, 2020Peer-reviewedGenetics

Linkage Analysis in Caribbean Hispanic Families with Puerto Rican Ancestry Idenitfies an Alzheimer Disease Locus on chromosome 9.

Farid Rajabli, Briseida E. Feliciano‐Astacio, Holly N. Cukier, Liyong Wang, Anthony J. Griswold, Kara L. Hamilton‐Nelson, Larry Deon Adams, Vanessa Rodríguez, Pedro Ramon Mena, Sergio J. Tejada, Katrina Celis, Patrice L. Whitehead, Derek J. Van Booven, Natalia K. Hofmann, Parker L. Bussies, , Margaret Ann Pericak‐Vance

The paper performs linkage analysis in Caribbean Hispanic families to identify an Alzheimer's disease locus on chromosome 9, finding a region with multiple candidate genes.

bioRxiv · Mar 10, 2020 · PreprintGenetics