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A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.
Wednesday,2019-01-09 13:18 America/Los_Angeles — ecterry
| Title | A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease. |
| Publication Type | Journal Article |
| Year of Publication | 2019 |
| Authors | Zhang, X, Zhu, C, Beecham, G, Vardarajan, BN, Ma, Y, Lancour, D, Farrell, JJ, Chung, J, Mayeux, R, Haines, JL, Schellenberg, GD, Pericak-Vance, MA, Lunetta, KL, Farrer, LA |
| Corporate/Institutional Authors | Alzheimer's Disease Sequencing Project |
| Journal | Alzheimers Dement |
| Date Published | 2019 Jan 03 |
| ISSN | 1552-5279 |
| Abstract | <p><b>INTRODUCTION: </b>The genetic architecture of Alzheimer's disease (AD) is only partially understood.</p><p><b>METHODS: </b>We conducted an association study for AD using whole sequence data from 507 genetically enriched AD cases (i.e., cases having close relatives affected by AD) and 4917 cognitively healthy controls of European ancestry (EA) and 172 enriched cases and 179 controls of Caribbean Hispanic ancestry. Confirmation of top findings from stage 1 was sought in two family-based genome-wide association study data sets and in a whole genome-sequencing data set comprising members from 42 EA and 115 Caribbean Hispanic families.</p><p><b>RESULTS: </b>We identified associations in EAs with variants in 12 novel loci. The most robust finding is a rare CASP7 missense variant (rs116437863; P = 2.44 × 10) which improved when combined with results from stage 2 data sets (P = 1.92 × 10).</p><p><b>DISCUSSION: </b>Our study demonstrated that an enriched case design can strengthen genetic signals, thus allowing detection of associations that would otherwise be missed in a traditional case-control study.</p> |
| DOI | 10.1016/j.jalz.2018.10.005 |
| Alternate Journal | Alzheimers Dement |
| PubMed ID | 30503768 |
| Grant List | U01 AG058654 / AG / NIA NIH HHS / United States R01 AG058501 / AG / NIA NIH HHS / United States P01 AG003991 / AG / NIA NIH HHS / United States P50 AG005681 / AG / NIA NIH HHS / United States P30 AG013846 / AG / NIA NIH HHS / United States UF1 AG047133 / AG / NIA NIH HHS / United States R01 AG048927 / AG / NIA NIH HHS / United States RF1 AG057519 / AG / NIA NIH HHS / United States |
ePub date:
19/01