Missense and loss‐of‐function variants at GWAS loci in familial Alzheimer's disease
Rare coding variants from GWAS loci segregate in familial Alzheimer's disease. Missense or loss of function variants were found segregating in nearly 7% of families. APOE-𝜀4 was the only segregating variant in 29.7% in familial Alzheimer's disease. In Hispanic and non-Hispanic families, different variants were found in segregating genes. No coding variants were found segregating in many Hispanic and non-Hispanic families.
Authors
- Martin Medrano (ORCID: https://orcid.org/0000-0003-3673-9088)
- Clifton L. Dalgard (ORCID: https://orcid.org/0000-0003-2025-8239)
- Camille Alba (ORCID: https://orcid.org/0000-0002-0458-1629)
- Diones Rivera Mejía (ORCID: https://orcid.org/0000-0001-5935-8005)
- Jonathan L. Haines (ORCID: https://orcid.org/0000-0002-4351-4728)
- Tamil Iniyan Gunasekaran (ORCID: https://orcid.org/0000-0002-8639-5060)
- Carlos C Cruchaga (ORCID: https://orcid.org/0000-0002-0276-2899)
- Debby W. Tsuang (ORCID: https://orcid.org/0000-0002-4716-1894)
- Tatiana Foroud
- R. J. Wilson (ORCID: https://orcid.org/0000-0002-8184-4103)
- Bradley F. Boeve (ORCID: https://orcid.org/0000-0002-4153-8187)
- Roger N. Rosenberg
- Richard P Mayeux (ORCID: https://orcid.org/0000-0001-6519-9696)
- Robert A. Sweet (ORCID: https://orcid.org/0000-0001-9154-9709)
- Alison Goate (ORCID: https://orcid.org/0000-0002-0576-2472)
- Badri Narayan Vardarajan (ORCID: https://orcid.org/0000-0002-5560-4085)
- Dolly Reyes‐Dumeyer (ORCID: https://orcid.org/0000-0003-3572-8248)
- Rafael Lantigua (ORCID: https://orcid.org/0000-0003-4854-7331)
- Kelley Faber (ORCID: https://orcid.org/0000-0003-3224-2736)
- Margaret Pericak‐Vance
- David A. Bennett
Institutions
- Rush University Medical Center (US)
- Mayo Clinic (US)
- NewYork–Presbyterian Hospital (US)
- University of Miami (US)
- Uniformed Services University of the Health Sciences (US)
- Pontificia Universidad Católica Madre y Maestra (DO)
- University of Pittsburgh (US)
- University of Washington (US)
- Washington University in St. Louis (US)
- VA Puget Sound Health Care System (US)
- Universidad Nacional Pedro Henríquez Ureña (DO)
- Dr. John T. Macdonald Foundation (US)
- Indiana University School of Medicine
- Indiana University – Purdue University Indianapolis (US)
- Case Western Reserve University (US)
- Columbia University (US)
- The University of Texas Southwestern Medical Center (US)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-09-05
- DOI
- https://doi.org/10.1002/alz.14221
- Citations
- 5
- Primary Topic
- Alzheimer's disease research and treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.63
Funders
- American Brain Foundation
- Biogen
- Little Family Foundation
- Demensförbundet
- National Institutes of Health
- National Institute on Aging