Sex differences in the genetic predictors of Alzheimer’s pathology
Open accessAbstract
Autopsy measures of Alzheimer's disease neuropathology have been leveraged as endophenotypes in previous genome-wide association studies (GWAS). However, despite evidence of sex differences in Alzheimer's disease risk, sex-stratified models have not been incorporated into previous GWAS analyses. We looked for sex-specific genetic associations with Alzheimer's disease endophenotypes from six brain bank data repositories. The pooled dataset included 2701 males and 3275 females, the majority of whom were diagnosed with Alzheimer's disease at autopsy (70%). Sex-stratified GWAS were performed within each dataset and then meta-analysed. Loci that reached genome-wide significance (P < 5 × 10-8) in stratified models were further assessed for sex interactions. Additional analyses were performed in independent datasets leveraging cognitive, neuroimaging and CSF endophenotypes, along with age-at-onset data. Outside of the APOE region, one locus on chromosome 7 (rs34331204) showed a sex-specific association with neurofibrillary tangles among males (P = 2.5 × 10-8) but not females (P = 0.85, sex-interaction P = 2.9 × 10-4). In follow-up analyses, rs34331204 was also associated with hippocampal volume, executive function, and age-at-onset only among males. These results implicate a novel locus that confers male-specific protection from tau pathology and highlight the value of assessing genetic associations in a sex-specific manner.
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Limited findings from genome-wide and transcriptome-wide association studies in AD suggest that sample size is a critical consideration when examining sex interactions.
“Limited findings from genome‐wide 86 and transcriptome‐wide 18 , 22 association studies in AD also suggest that the sample size is a critical consideration when examining sex interactions.”
From Unraveling sex differences in Alzheimer's disease and related endophenotypes with brain proteomes (2025) · cites this paper as [86]
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Additional file 2 of Sex-specific DNA methylation differences in Alzheimer’s disease pathology
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Additional file 1 of Sex-specific DNA methylation differences in Alzheimer’s disease pathology
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Additional file 1 of Limited evidence for blood eQTLs in human sexual dimorphism
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- Authors
- Dumitrescu, L., Barnes, L. L., Thambisetty, M., Beecham, G., Kunkle, B., Bush, W. S., Gifford, K. A., Chibnik, L. B., Mukherjee, S., De Jager, P. L., Kukull, W., Crane, P. K., Resnick, S. M., Keene, C. D., Montine, T. J., Schellenberg, G. D., Deming, Y., Chao, M. J., Huentelman, M., Martin, E. R., Hamilton-Nelson, K., Shaw, L. M., Trojanowski, J. Q., Peskind, E. R., Cruchaga, C., Pericak-Vance, M. A., Goate, A. M., Cox, N. J., Haines, J. L., Zetterberg, H., Blennow, K., Larson, E. B., Johnson, S. C., Albert, M., for the Alzheimer’s Disease Genetics Consortium and the Alzheimer’s Disease Neuroimaging Initiative, Bennett, D. A., Schneider, J. A., Jefferson, A. L., & Hohman, T. J.
- Affiliations
- Vanderbilt University (US)
- Rush University Medical Center (US)
- National Institute on Aging (US)
- University of Miami (US)
- Case Western Reserve University (US)
- Vanderbilt University Medical Center (US)
- Brigham and Women's Hospital (US)
- University of Washington (US)
- Center for Translational and Computational Neuroimmunology, Department of Neurology, Columbia University Medical Center, New York, NY, USA
- Stanford Medicine (US)
- University of Pennsylvania (US)
- Washington University in St. Louis (US)
- Icahn School of Medicine at Mount Sinai (US)
- Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA
- John P. Hussman Institute for Human Genomics, University of Miami School of Medicine, Miami, FL, USA
- Sahlgrenska University Hospital (SE)
- Kaiser Permanente Washington Health Research Institute (US)
- University of Wisconsin–Madison (US)
- Johns Hopkins University (US)
- Corresponding author
- Hohman, Timothy J
- ORCID
- Dumitrescu, Logan
- Barnes, Lisa L
- Thambisetty, Madhav
- Beecham, Gary
- Kunkle, Brian
- Bush, William S
- Gifford, Katherine A
- Chibnik, Lori B
- Mukherjee, Shubhabrata
- Kukull, Walter
- Crane, Paul K
- Resnick, Susan M
- Keene, C Dirk
- Montine, Thomas J
- Schellenberg, Gerard D
- Deming, Yuetiva
- Martin, Eden R
- Shaw, Leslie M
- Trojanowski, John Q
- Peskind, Elaine R
- Cruchaga, Carlos
- Goate, Alison M
- Cox, Nancy J
- Haines, Jonathan L
- Zetterberg, Henrik
- Blennow, Kaj
- Larson, Eric B
- Johnson, Sterling C
- Albert, Marilyn
- Bennett, David A
- Schneider, Julie A
- Jefferson, Angela L
- Hohman, Timothy J
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2019-07-20
- Volume
- 142
- Issue
- 9
- Pages
- 2581-2589
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- PMC
- PMC6736148
- OpenAlex
- W2963306242
- Cited by
- 93
- References
- 30
- Citations by year
- 2026: 7 · 2025: 16 · 2024: 9 · 2023: 14 · 2022: 11 · 2021: 24 · 2020: 11 · 2019: 1
- FWCI
- 9.94
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Brain (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Alzheimer’s Association (NIRG-11–200110, K01 AG049164, R21 AG05994, K12 HD043483, K24 AG046373, HHSN311201600276P, S10 OD023680, R01 AG034962, R01 HL111516, R01 NS100980, R01 AG056534, P30 AG10161, RF1 AG15819, R01 AG17917, R01 AG30146, R01 AG019085, R01 AG15819, R01 AG027161, R01 AG021155, R01 AG037639, U01 AG46152, U01 AG006781, U01 AG032984, U01 HG004610, U01 HG006375, U24 AG021886, U24 AG041689, R01 AG044546, P01 AG003991, RF1 AG053303, R01 AG035083, R01 NS085419, UL1 TR000445, KL2 TR000446, TL1 TR000447)
- Intramural Research Program
- NIA
- NIH (U01 AG016976)
- Vanderbilt Memory & Alzheimer’s Center
- NIMH (T32MH014877, R01 AG048015)
- Swedish and European Research Councils
- UK Dementia Research Institute
- Royal Swedish Academy of Sciences
- NACC (P30 AG019610)
- 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, endophenotypes, neurofibrillary tangles, tau pathology, hippocampal volume, executive function, age of onset, apolipoprotein E, sex interaction, brain banks
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Female, Humans, Male, Sex Characteristics, Cohort Studies, Amyloid beta-Peptides, tau Proteins, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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