Sex differences in the genetic architecture of Alzheimer’s disease
Open accessAbstract
Purpose of review Summarize sex-specific contributors to the genetic architecture of Alzheimer's disease (AD).Recent findings There are sex differences in the effects of Apolipoprotein E (APOE), genes along the APOE pathway, and genes along the neurotrophic signaling pathway in predicting AD. Reported sex differences are largely driven by stronger associations among females. Evidence also suggests that genetic predictors of amyloidosis are largely shared across sexes, while sex-specific genetic effects emerge downstream of amyloidosis and drive the clinical manifestation of AD.Summary There is a lack of comprehensive assessments of sex differences in genome-wide analyses of AD and a need for more systematic reporting a sex-stratified genetic effects. The emerging emphasis on sex as a biological variable provides an opportunity for transdisciplinary collaborations aimed at addressing major analytical challenges that have hampered advancements in the field. Ultimately, sex-specific genetic association studies represent a logical first step towards precision medicine.
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APOE has been associated with sex-specific alterations in CSF tau levels and disease progression but not robustly with CSF Aβ1-42.
“APOE has been associated with sex-specific alterations in CSF tau levels and disease progression but not robustly with CSF Aβ1–42”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [258]
Notable sex differences in the clinical and pathological presentation between the sexes exist.
“Notable sex differences in the clinical and pathological presentation between the sexes exist, each of which have been extensively reviewed previously [258–261]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [258]
Several additional loci, including APOE, have been identified as exhibiting sex-specific association with AD endophenotypes.
“Several additional loci, including APOE [264], have been identified as exhibiting sex-specific association with AD endophenotypes”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [258]
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References 99 · Cited by 48
- Authors
- Dumitrescu, L., Mayeda, E. R., Sharman, K., Moore, A. M., & Hohman, T. J.
- Affiliations
- Vanderbilt University (US)
- University of California, Los Angeles (US)
- Corresponding author
- Hohman, Timothy J.
- Venue
- Current Genetic Medicine Reports
- Published
- 2019-01-21
- Volume
- 7
- Issue
- 1
- Pages
- 13-21
- ISSN
- 2167-4876 (ISSN-L)
- PMC
- PMC6662731
- OpenAlex
- W2917513318
- Cited by
- 48
- References
- 99
- Citations by year
- 2026: 6 · 2025: 11 · 2024: 4 · 2023: 10 · 2022: 6 · 2021: 7 · 2020: 2 · 2019: 1 · 2018: 1
- FWCI
- 2.73
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Current Genetic Medicine Reports (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (R00AG053410, R01AG059716, K01AG049164, R21AG059941, T32AG058524)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K12HD043483)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, sex differences, genetic architecture, amyloidosis, sex as a biological variable, precision medicine
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