Examination of <i>MGMT</i> as a risk gene for dementia in the Amish
Association analyses around the O-6-methylguanine-DNA methyltransferase (MGMT) locus showed a study-significant single nucleotide polymorphism (SNP), rs7909468, in a female cognitively impaired group lacking the apolipoprotein E ε4 genotype. Functional implications of rs7909468 are relatively unexplored, but in silico analyses indicate it may regulate MGMT expression. rs7909468 was not in linkage disequilibrium with other SNPs found to be significant in this region and appears as a distinct novel association.
Authors
- Daniel A. Dorfsman
- Kristy Miskimen
- Jonathan L. Haines (ORCID: https://orcid.org/0000-0002-4351-4728)
- Leighanne R. Main (ORCID: https://orcid.org/0000-0002-8828-8066)
- Jason E. Clouse
- Sharlene D. Herington
- Michael L. Cuccaro (ORCID: https://orcid.org/0000-0003-4769-0785)
- Jeffery M. Vance (ORCID: https://orcid.org/0000-0003-3815-8199)
- Sherri D. Hochstetler
- M. Denise Fuzzell
- Michael D. Osterman (ORCID: https://orcid.org/0000-0003-4302-6596)
- Alan J. Lerner (ORCID: https://orcid.org/0000-0001-9447-6154)
- Michael B. Prough
- Reneé A. Laux
- Margaret A. Pericak‐Vance (ORCID: https://orcid.org/0000-0001-7283-8804)
- Paula Ogrocki
- Laura J. Caywood
- Yeunjoo E. Song (ORCID: https://orcid.org/0000-0002-7452-3731)
- William K. Scott (ORCID: https://orcid.org/0000-0001-9336-6404)
- Sarada L. Fuzzell
- Larry D. Adams
- Audrey Lynn
Institutions
- University of Miami (US)
- University Hospitals of Cleveland (US)
- Dr. John T. Macdonald Foundation (US)
- University School (US)
- Case Western Reserve University (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-23
- DOI
- https://doi.org/10.1002/alz.14356
- Primary Topic
- Epigenetics and DNA Methylation
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Foundation for the National Institutes of Health
- National Institutes of Health