Article: Identification of Rare Damaging Missense and Loss of Function Variants in GWAS Loci Using Genome Sequencing Data from Two Cohorts of Familial Late-Onset Alzheimer's Disease.
medRxiv : the preprint server for health sciences
2023
Abstract: Purpose: Few rare pathogenic variants have been identified in the 70+ genetic loci from genome wide association studies of late-onset Alzheimer's disease (AD), limiting research on underlying mechanisms, risk assessment, and genetic counseling.: ... ...
| Abstract | Purpose: Few rare pathogenic variants have been identified in the 70+ genetic loci from genome wide association studies of late-onset Alzheimer's disease (AD), limiting research on underlying mechanisms, risk assessment, and genetic counseling. Methods: Using genome sequencing data from 197 families in The National Institute on Aging Alzheimer's Disease Family Based Study (AD-FBS), and 214 families in The Estudio Familiar de la Influencia Genética en Alzheimer (EFIGA), we characterized rare coding variants predicted to highly damaging missense or loss of function variants (LoF) within known GWAS loci. Results: Eight coding and one LoF variant segregated in 10 (5.1%) AD-FBS families and 16 coding and two LoF variants segregated in 18 (8.4%) EFIGA families. Conclusions: Although rare variants were found in both family groups, many families had no gene variant segregating within the family, indicating that the genetic basis for AD has yet to be fully defined. |
|---|---|
| Language | English |
| Publishing date | 2023-12-18 |
| Publishing country | United States |
| Document type | Preprint |
| DOI | 10.1101/2023.12.18.23300145 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
Inter-library loan at ZB MED
Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.