Cited by 104Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchGenetic Associations and Epidemiology

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Sex differences in the genetic predictors of Alzheimer’s pathology

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Dumitrescu, Logan, Barnes, Lisa L, Thambisetty, Madhav, Beecham, Gary, Kunkle, Brian, Bush, William S, Gifford, Katherine A, Chibnik, Lori B, Mukherjee, Shubhabrata, De Jager, Philip L, Kukull, Walter, Crane, Paul K, Resnick, Susan M, Keene, C Dirk, Montine, Thomas J, Schellenberg, Gerard D, Deming, Yuetiva, Chao, Michael J, Huentelman, Matt, Martin, Eden R, Hamilton-Nelson, Kara, Shaw, Leslie M, Trojanowski, John Q, Peskind, Elaine R, Cruchaga, Carlos, Pericak-Vance, Margaret A, Goate, Alison M, Cox, Nancy J, Haines, Jonathan L, Zetterberg, Henrik, Blennow, Kaj, Larson, Eric B, Johnson, Sterling C, Albert, Marilyn, for the Alzheimer’s Disease Genetics Consortium and the Alzheimer’s Disease Neuroimaging Initiative, Bennett, David A, Schneider, Julie A, Jefferson, Angela L, Hohman, Timothy J·2019·Brain

DOI 10.1093/brain/awz206PMC PMC6736148

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Abstract

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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Clinical diagnosis of Alzheimer's disease: Report of the NINCDS‐ADRDA Work Group* under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984) · Neurology · doi:10.1212/wnl.34.7.939 · Cited by 27,915
The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging‐Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease
McKhann, G. M., Knopman, D. S., Chertkow, H., Hyman, B. T., Jack, C. R., Kawas, C. H., Klunk, W. E., Koroshetz, W. J., Manly, J. J., Mayeux, R., et al. (2011) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2011.03.005 · Cited by 18,657
National Institute on Aging–Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease
Hyman, B. T., Phelps, C. H., Beach, T. G., Bigio, E. H., Cairns, N. J., Carrillo, M. C., Dickson, D. W., Duyckaerts, C., Frosch, M. P., Masliah, E., et al. (2012) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2011.10.007 · Cited by 3,092
Self-citation
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Blennow, K., & Hampel, H. (2003) · The Lancet Neurology · doi:10.1016/s1474-4422(03)00530-1 · Cited by 1,291
Clinical epidemiology of Alzheimer’s disease: assessing sex and gender differences
Mielke, M., Vemuri, P., & Rocca, W. (2014) · Clinical Epidemiology · doi:10.2147/clep.s37929 · Cited by 1,021
Sex modifies the APOE ‐related risk of developing Alzheimer disease
Altmann, A., Tian, L., Henderson, V. W., Greicius, M. D., & Alzheimer's Disease Neuroimaging Initiative Investigators (2014) · Annals of Neurology · doi:10.1002/ana.24135 · Cited by 891
Apolipoprotein E Genotype and Sex Risk Factors for Alzheimer Disease: A Meta-analysis
Neu, S. C., Pa, J., Kukull, W., Beekly, D., Kuzma, A., Gangadharan, P., Wang, L.-S., Romero, K., Arneric, S. P., Redolfi, A., et al. (2017) · JAMA Neurology · doi:10.1001/jamaneurol.2017.2188 · Cited by 674
Self-citation
Sex Differences in the Clinical Manifestations of Alzheimer Disease Pathology
Barnes, L. L., Wilson, R. S., Bienias, J. L., Schneider, J. A., Evans, D. A., & Bennett, D. A. (2005) · Archives of General Psychiatry · doi:10.1001/archpsyc.62.6.685 · Cited by 643
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
PSP Genetics Study Group, Höglinger, G. U., Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., Wang, L.-S., Klei, L., Rademakers, R., de Silva, R., Litvan, I., et al. (2011) · Nature Genetics · doi:10.1038/ng.859 · Cited by 603
GWAMA: software for genome-wide association meta-analysis
Mägi, R., & Morris, A. P. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-288 · Cited by 600

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Additional file 10 of Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm
Ji, W., An, K., Wang, C., & Wang, S. (2022) · Figshare · doi:10.6084/m9.figshare.21275950
Additional file 2 of Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm
Ji, W., An, K., Wang, C., & Wang, S. (2022) · Figshare · doi:10.6084/m9.figshare.21275956
Additional file 6 of Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm
Ji, W., An, K., Wang, C., & Wang, S. (2022) · Figshare · doi:10.6084/m9.figshare.21275968
Additional file 8 of Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm
Ji, W., An, K., Wang, C., & Wang, S. (2022) · Figshare · doi:10.6084/m9.figshare.21275974
Additional file 1 of Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm
Ji, W., An, K., Wang, C., & Wang, S. (2022) · Figshare · doi:10.6084/m9.figshare.21275953
Additional file 3 of Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm
Ji, W., An, K., Wang, C., & Wang, S. (2022) · Figshare · doi:10.6084/m9.figshare.21275959
Additional file 4 of Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm
Ji, W., An, K., Wang, C., & Wang, S. (2022) · Figshare · doi:10.6084/m9.figshare.21275962
Additional file 9 of Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm
Ji, W., An, K., Wang, C., & Wang, S. (2022) · Figshare · doi:10.6084/m9.figshare.21275977
Additional file 7 of Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm
Ji, W., An, K., Wang, C., & Wang, S. (2022) · Figshare · doi:10.6084/m9.figshare.21275971
Additional file 5 of Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm
Ji, W., An, K., Wang, C., & Wang, S. (2022) · Figshare · doi:10.6084/m9.figshare.21275965
Additional file 2 of Sex-specific DNA methylation differences in Alzheimer’s disease pathology
Zhang, L., Young, J. I., Gomez, L., Silva, T. C., Schmidt, M. A., Cai, J., Chen, X., Martin, E. R., & Wang, L. (2021) · Figshare · doi:10.6084/m9.figshare.14490464
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Additional file 1 of Sex-specific DNA methylation differences in Alzheimer’s disease pathology
Zhang, L., Young, J. I., Gomez, L., Silva, T. C., Schmidt, M. A., Cai, J., Chen, X., Martin, E. R., & Wang, L. (2021) · Figshare · doi:10.6084/m9.figshare.14490461
Additional file 1 of Limited evidence for blood eQTLs in human sexual dimorphism
Porcu, E., Claringbould, A., Weihs, A., Lepik, K., Richardson, T. G., Völker, U., Santoni, F. A., Teumer, A., Franke, L., Reymond, A., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20479722
Additional file 1 of Genome-wide analysis identifies a novel LINC-PINT splice variant associated with vascular amyloid pathology in Alzheimer’s disease
Reddy, J. S., Allen, M., Ho, C. C. G., Oatman, S. R., İş, Ö., Quicksall, Z., Wang, X., Jin, J., Patel, T. A., Carnwath, T., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14643245
Additional file 2 of Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning
Neumann, A., Ohlei, O., Küçükali, F., Bos, I., Timsina, J., Vos, S. J. B., Prokopenko, D., Tijms, B. M., Andréasson, U., Blennow, K., et al. (2024) · Figshare · doi:10.6084/m9.figshare.24248160
Estrogen Receptor Alpha Polymorphism rs2228480 Increases Alzheimer’s Disease Susceptibility in Women
Özmen, E., Bulut, T., Ayan, D., Erşan, E. E., & Sari, M. (2025) · Turkish Journal of Clinics and Laboratory · doi:10.18663/tjcl.1821684

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
DOI: 10.1093/brain/awz206
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
Licence: academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor, 1 d)
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: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › 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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Sex differences in the genetic predictors of Alzheimer’s pathology

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