Genes that escape X chromosome inactivation are associated with Alzheimer’s disease endophenotypes: findings from ROSMAP
GRIPAP1 and ATP11C are implicated in endosomal recycling and inflammation, respectively, supporting two pathways associated with AD. Both GRIPAP1 and ATP11C exhibited sex-parity in gene expression suggesting that single-cell RNAseq will be necessary to further characterize XCI-escapism in relation to AD risk. Altogether, this study presents evidence that studying the X chromosome is integral to understanding female resistance, resilience, and vulnerability to AD pathology.
Authors
- Reisa Anne Sperling (ORCID: https://orcid.org/0000-0003-1535-6133)
- Timothy J. Hohman (ORCID: https://orcid.org/0000-0002-3377-7014)
- Julie A. Schneider (ORCID: https://orcid.org/0000-0002-9482-1752)
- Logan C. Dumitrescu (ORCID: https://orcid.org/0000-0002-9782-9944)
- Rachel F. Buckley (ORCID: https://orcid.org/0000-0002-5356-5537)
- Michelle Clifton
- Philip L. De Jager (ORCID: https://orcid.org/0000-0002-8057-2505)
- Hyun‐Sik Yang (ORCID: https://orcid.org/0000-0002-8318-0443)
- Gillian Coughlan (ORCID: https://orcid.org/0000-0003-1806-702X)
- Colin Birkenbihl (ORCID: https://orcid.org/0000-0002-7212-7700)
- Rory Boyle (ORCID: https://orcid.org/0000-0003-0787-6892)
- Ting‐Chen Wang (ORCID: https://orcid.org/0000-0001-6139-3168)
- Yanling Wang (ORCID: https://orcid.org/0000-0003-2012-1099)
- David A. Bennett
- Mabel Seto
Institutions
- Brigham and Women's Hospital (US)
- Rush University Medical Center (US)
- Harvard University (US)
- Columbia University Irving Medical Center (US)
- Massachusetts General Hospital (US)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.090796
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00