Title | Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants. |
Publication Type | Journal Article |
Year of Publication | 2017 |
Authors | N'Songo, A, Carrasquillo, MM, Wang, X, Nguyen, T, Asmann, Y, Younkin, SG, Allen, M, Duara, R, Custo, MTGreig, Graff-Radford, N, Ertekin-Taner, N |
Journal | J Alzheimers Dis |
Volume | 56 |
Issue | 4 |
Pagination | 1215-1222 |
Date Published | 2017 |
ISSN | 1875-8908 |
Abstract | We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population. Whole-exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among controls. These variants were analyzed in an independent cohort of 300 African American subjects in which PSEN2:NM_000447:exon5:c.T331C:p.Phe111Leu and PSEN1-minilin rs777923890 variants were again not observed, indicating that these novel rare variants, may contribute to AD risk in this population. |
DOI | 10.3233/JAD-161185 |
Alternate Journal | J. Alzheimers Dis. |
PubMed ID | 28106563 |
Grant List | P50 AG016574 / AG / NIA NIH HHS / United States R01 NS080820 / NS / NINDS NIH HHS / United States U01 AG046139 / AG / NIA NIH HHS / United States |