Genome‐wide association analysis and admixture mapping suggest an Alzheimer disease risk locus on chromosome 12 in a Puerto Rican cohort

PR GWAS and AM identified a suggestive AD risk locus in the SLC38A1 gene. This region overlaps with an area of linkage of AD in previous studies (12q13). The SLC38A1 gene is associated with ischemic brain damage and its transcription is affected by amyloid-beta peptide. Our study replicated 8 known AD loci previously identified in European studies and showed good predictive power with NHW-derived PRS which is likely due to the high European background of the PR population. Including underrepresented populations in genetic studies is important for identifying health disparities and developing effective treatments for AD in all groups.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2024-12-01
DOI
https://doi.org/10.1002/alz.091600
Primary Topic
Genetic Associations and Epidemiology
Type
article
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article

Genome‐wide association analysis and admixture mapping suggest an Alzheimer disease risk locus on chromosome 12 in a Puerto Rican cohort

Clifton L. Dalgard, Bilçağ Akgün, Gary W. Beecham, Patrice L. Whitehead et al.
Alzheimer s & Dementia
Genetic Associations and Epidemiology
article

Genome‐wide association analysis and admixture mapping suggest an Alzheimer disease risk locus on chromosome 12 in a Puerto Rican cohort

Clifton L. Dalgard, Bilçağ Akgün, Gary W. Beecham, Patrice L. Whitehead, Michael L. Cuccaro, Jeffery M. Vance, Kara L. Hamilton‐Nelson, Katrina Celis, Concepcion Silva‐Vergara, Briseida E. Feliciano‐Astacio, Vanessa Rodríguez, Michael B. Prough, Kyle Scott, Heriberto Acosta, Pedro Mena, Jóse Javier Sánchez, Anthony J. Griswold, Glenies S Valladares, Farid Rajabli, Larry D. Adams, Katalina McInerney, Joe Rivero, Margaret A Pericak‐Vance
article en

Abstract

PR GWAS and AM identified a suggestive AD risk locus in the SLC38A1 gene. This region overlaps with an area of linkage of AD in previous studies (12q13). The SLC38A1 gene is associated with ischemic brain damage and its transcription is affected by amyloid-beta peptide. Our study replicated 8 known AD loci previously identified in European studies and showed good predictive power with NHW-derived PRS which is likely due to the high European background of the PR population. Including underrepresented populations in genetic studies is important for identifying health disparities and developing effective treatments for AD in all groups.

Alzheimer s & DementiaVol. 20(S1)
University of Miami (US), Uniformed Services University of the Health Sciences (US), Central University of the Caribbean (PR), Dr. John T. Macdonald Foundation (US), Center for Advanced Studies on Puerto Rico and the Caribbean (PR)
Openalex Percentile: Top 73%
Genetic Associations and Epidemiology
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