Novel rare variant associations with late‐life cognitive performance
Alexandra N Regelson, Derek B Archer, Alaina Durant, Shubhabrata Mukherjee, Michael L Lee, Seo‐Eun Choi, Phoebe Scollard, Emily H Trittschuh, Jesse Mez, William S Bush, Amanda B Kuzma, Michael L Cuccaro, Carlos Cruchaga, Lindsay A Farrer, Li‐San Wang, Gerard D Schellenberg, Richard Mayeux, Walter A · 2025
Read Novel rare variant associations with late‐life cognitive performance by Alexandra N Regelson, Derek B Archer, Alaina Durant, Shubhabrata Mukherjee, Michael L Lee, Seo‐Eun Choi, Phoebe Scollard, Emily H Trittschuh, Jesse Mez, William S Bush, Amanda B Kuzma, Michael L Cuccaro, Carlos Cruchaga, Lindsay A Farrer, Li‐San Wang, Gerard D Schellenberg, Richard Mayeux, Walter A (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11712850.txt.
Description
Alexandra Regelson and a large consortium hunt for rare genetic variants that shape thinking skills late in life. Alzheimer's disease is highly heritable, yet much of that heritability stays unexplained, in part because rare variants were missed by case-control designs. The team used cognitive performance itself as the trait, across memory, executive function, and language. Data came from eight aging cohorts in the Alzheimer's Disease Sequencing Project.
Whole genome sequencing covered 9,317 people with a mean age of 73, of whom 56% were female and 52% were cognitively unimpaired. Factor analysis harmonized scores across cohorts. The analysis seeks new genetic drivers of cognition in aging and disease.
Catalog record
| CREATOR | Alexandra N Regelson, Derek B Archer, Alaina Durant, Shubhabrata Mukherjee, Michael L Lee, Seo‐Eun Choi, Phoebe Scollard, Emily H Trittschuh, Jesse Mez, William S Bush, Amanda B Kuzma, Michael L Cuccaro, Carlos Cruchaga, Lindsay A Farrer, Li‐San Wang, Gerard D Schellenberg, Richard Mayeux, Walter A |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 3 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |