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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Genet. | doi: 10.3389/fgene.2019.00538

The Puerto Rico Alzheimer Disease Initiative (PRADI): A multisource ascertainment approach

 Briseida E. Feliciano-Astacio1, Katrina Celis2,  Jairo Ramos3,  Farid Rajabli4, Larry D. Adams2, Alejandra Rodriguez1, Vanessa Rodriguez2,  Parker L. Bussies2, Carolina Sierra1, Patricia Manrique2, Pedro Mena4, Antonella Grana2, Michael Prough2,  Kara L. Hamilton-Nelson2, Nereida Feliciano5,  Angel Chinea1,  Heriberto Acosta6,  Jacob L. McCauley2,  Jeffery M. Vance2,  Gary W. Beecham2,  Margaret A. Pericak-Vance2* and  Michael L. Cuccaro2
  • 1Central University of the Caribbean, Puerto Rico
  • 2Hussman Institute for Human Genomics, University of Miami, United States
  • 3University of Miami, United States
  • 4University of Miami, United States
  • 5VA Caribbean Healthcare System, Puerto Rico
  • 6Clínica de la Memoria, Puerto Rico

Introduction: Puerto Ricans, the second largest Latino group in the continental US, are underrepresented in genomic studies of Alzheimer Disease (AD. To increase representation of this group in genomic studies of AD, we developed a multisource ascertainment approach to enroll AD patients and their family members living in Puerto Rico (PR) as part of the Alzheimer’s Disease Sequencing Project (ADSP), an international effort to advance broader personalized/precision medicine initiatives for AD across all populations.
Methods: The Puerto Rico Alzheimer Disease Initiative (PRADI) multisource ascertainment approach was developed to recruit and enroll Puerto Rican adults aged 50 years and older for a genetic research study of AD, including individuals with cognitive decline (AD, mild cognitive impairment), their similarly aged family members, and cognitively healthy unrelated individuals age 50 and up. Emphasizing identification and relationship building with key stakeholders, we conducted ascertainment across the island. In addition to reporting on PRADI ascertainment, we detail admixture analysis for our cohort by region, group differences in age of onset, cognitive level by region, and ascertainment source.
Results: We report on 674 individuals who met standard eligibility criteria (282 AD-affected participants [42% of the sample], 115 individuals with mild cognitive impairment (MCI) [17% of the sample], and 277 cognitively healthy individuals [41% of the sample]). There are 43 possible multiplex families (10 families with 4 or more AD-affected members and 3 families with 3 AD-affected members). Most individuals in our cohort were ascertained from the Metro, Bayaman, and Cauguas health regions. Across health regions, we found differences in ancestral backgrounds and select clinical traits.
Discussion: The multisource ascertainment approach used in the PRADI study highlights the importance of enlisting a broad range of community resources and providers. Preliminary results provide important information about our cohort that will be useful as we move forward with ascertainment. We expect that results from the PRADI study will lead to a better understanding of genetic risk for AD among this population.

Keywords: Alzheimer Disease, ascertainment, PRADI, Genetics, community resources, ADSP, diversity, Health Disparities

Received: 18 Sep 2018; Accepted: 17 May 2019.

Edited by:

Kelli K. Ryckman, The University of Iowa, United States

Reviewed by:

Phillip E. Melton, Curtin University, Australia
Bethany Wolf, Medical University of South Carolina, United States  

Copyright: © 2019 Feliciano-Astacio, Celis, Ramos, Rajabli, Adams, Rodriguez, Rodriguez, Bussies, Sierra, Manrique, Mena, Grana, Prough, Hamilton-Nelson, Feliciano, Chinea, Acosta, McCauley, Vance, Beecham, Pericak-Vance and Cuccaro. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Margaret A. Pericak-Vance, Hussman Institute for Human Genomics, University of Miami, Coral Gables, United States,