Cited by 120Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchGenetic Associations and Epidemiology

The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.

Sex-specific genetic predictors of Alzheimer’s disease biomarkers

Open access

Alzheimer’s Disease Neuroimaging Initiative (ADNI), Deming, Yuetiva, The Alzheimer Disease Genetics Consortium (ADGC), Dumitrescu, Logan, Barnes, Lisa L., Thambisetty, Madhav, Kunkle, Brian, Gifford, Katherine A., Bush, William S., Chibnik, Lori B., Mukherjee, Shubhabrata, De Jager, Philip L., Kukull, Walter, Huentelman, Matt, Crane, Paul K., Resnick, Susan M., Keene, C. Dirk, Montine, Thomas J., Schellenberg, Gerard D., Haines, Jonathan L., Zetterberg, Henrik, Blennow, Kaj, Larson, Eric B., Johnson, Sterling C., Albert, Marilyn, Moghekar, Abhay, del Aguila, Jorge L., Fernandez, Maria Victoria, Budde, John, Hassenstab, Jason, Fagan, Anne M., Riemenschneider, Matthias, Petersen, Ronald C., Minthon, Lennart, Chao, Michael J., Van Deerlin, Vivianna M., Lee, Virginia M.-Y., Shaw, Leslie M., Trojanowski, John Q., Peskind, Elaine R., Li, Gail, Davis, Lea K., Sealock, Julia M., Cox, Nancy J., Goate, Alison M., Bennett, David A., Schneider, Julie A., Jefferson, Angela L., Cruchaga, Carlos, Hohman, Timothy J.·2018·Acta Neuropathologica

DOI 10.1007/s00401-018-1881-4PMC PMC6280657

Open this paper in CoChat — free account

Abstract

Cerebrospinal fluid (CSF) levels of amyloid-β 42 (Aβ42) and tau have been evaluated as endophenotypes in Alzheimer's disease (AD) genetic studies. Although there are sex differences in AD risk, sex differences have not been evaluated in genetic studies of AD endophenotypes. We performed sex-stratified and sex interaction genetic analyses of CSF biomarkers to identify sex-specific associations. Data came from a previous genome-wide association study (GWAS) of CSF Aβ42 and tau (1527 males, 1509 females). We evaluated sex interactions at previous loci, performed sex-stratified GWAS to identify sex-specific associations, and evaluated sex interactions at sex-specific GWAS loci. We then evaluated sex-specific associations between prefrontal cortex (PFC) gene expression at relevant loci and autopsy measures of plaques and tangles using data from the Religious Orders Study and Rush Memory and Aging Project. In Aβ42, we observed sex interactions at one previous and one novel locus: rs316341 within SERPINB1 (p = 0.04) and rs13115400 near LINC00290 (p = 0.002). These loci showed stronger associations among females (β = - 0.03, p = 4.25 × 10-8; β = 0.03, p = 3.97 × 10-8) than males (β = - 0.02, p = 0.009; β = 0.01, p = 0.20). Higher levels of expression of SERPINB1, SERPINB6, and SERPINB9 in PFC was associated with higher levels of amyloidosis among females (corrected p values < 0.02) but not males (p > 0.38). In total tau, we observed a sex interaction at a previous locus, rs1393060 proximal to GMNC (p = 0.004), driven by a stronger association among females (β = 0.05, p = 4.57 × 10-10) compared to males (β = 0.02, p = 0.03). There was also a sex-specific association between rs1393060 and tangle density at autopsy (p female = 0.047; p male = 0.96), and higher levels of expression of two genes within this locus were associated with lower tangle density among females (OSTN p = 0.006; CLDN16 p = 0.002) but not males (p ≥ 0.32). Results suggest a female-specific role for SERPINB1 in amyloidosis and for OSTN and CLDN16 in tau pathology. Sex-specific genetic analyses may improve understanding of AD's genetic architecture.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1007/s00401-018-1881-4

Cites

51 of 51 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

1 retracted

24-Hour Rhythms of DNA Methylation and Their Relation with Rhythms of RNA Expression in the Human Dorsolateral Prefrontal Cortex
Lim, A. S. P., Srivastava, G. P., Yu, L., Chibnik, L. B., Xu, J., Buchman, A. S., Schneider, J. A., Myers, A., Bennett, D. A., & Jager, P. L. D. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004792 · Cited by 92
Retracted
Cortical Surface-Based Analysis
Dale, A. M., Fischl, B., & Sereno, M. I. (1999) · NeuroImage · doi:10.1006/nimg.1998.0395 · Cited by 10,910
Cortical Surface-Based Analysis
Fischl, B., Sereno, M. I., & Dale, A. M. (1999) · NeuroImage · doi:10.1006/nimg.1998.0396 · Cited by 6,147
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science · doi:10.1126/science.1262110 · Cited by 5,062
Self-citation
Hypothetical model of dynamic biomarkers of the Alzheimer's pathological cascade
Jack, C. R., Knopman, D. S., Jagust, W. J., Shaw, L. M., Aisen, P. S., Weiner, M. W., Petersen, R. C., & Trojanowski, J. Q. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70299-6 · Cited by 4,806
Self-citation
Tracking pathophysiological processes in Alzheimer's disease: an updated hypothetical model of dynamic biomarkers
Jack, C. R., Knopman, D. S., Jagust, W. J., Petersen, R. C., Weiner, M. W., Aisen, P. S., Shaw, L. M., Vemuri, P., Wiste, H. J., Weigand, S. D., et al. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70291-0 · Cited by 4,396
Genetic effects on gene expression across human tissues
GTEx Consortium (2017) · Nature · doi:10.1038/nature24277 · Cited by 4,036
Alzheimer’s Disease
Scheltens, P., Blennow, K., Breteler, M. M. B., de Strooper, B., Frisoni, G. B., Salloway, S., & Van der Flier, W. M. (2016) · The Lancet · doi:10.1016/s0140-6736(15)01124-1 · Cited by 3,125
Alzheimer's Disease Neuroimaging Initiative (ADNI)
Petersen, R. C., Aisen, P. S., Beckett, L. A., Donohue, M. C., Gamst, A. C., Harvey, D. J., Jack, C. R., Jagust, W. J., Shaw, L. M., Toga, A. W., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181cb3e25 · Cited by 2,572
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
Naj, A. C., Jun, G., Beecham, G. W., Wang, L.-S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., et al. (2011) · Nature Genetics · doi:10.1038/ng.801 · Cited by 1,901
Self-citation

Show all 51 references

Sorted by citations

Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies
Yamazaki, Y., Zhao, N., Caulfield, T. R., Liu, C.-C., & Bu, G. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0228-7 · Cited by 1,425
Sex differences in Alzheimer’s disease and common neuropathologies of aging
Oveisgharan, S., Arvanitakis, Z., Yu, L., Farfel, J., Schneider, J. A., & Bennett, D. A. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1920-1 · Cited by 330
Sex and gender differences in cognitive resilience to aging and Alzheimer's disease
Arenaza‐Urquijo, E. M., Boyle, R., Casaletto, K., Anstey, K. J., Vila‐Castelar, C., Colverson, A., Palpatzis, E., Eissman, J. M., Kheng Siang Ng, T., Raghavan, S., et al. (2024) · Alzheimer's & Dementia · doi:10.1002/alz.13844 · Cited by 223
Sex Differences in Alzheimer’s Disease: Insights From the Multiomics Landscape
Guo, L., Zhong, M. B., Zhang, L., Zhang, B., & Cai, D. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.02.968 · Cited by 164
Systematic druggable genome-wide Mendelian randomisation identifies therapeutic targets for Alzheimer’s disease
Su, W., Gu, X., Dou, M., Duan, Q., Jiang, Z., Yin, K., Cai, W.-C., Cao, B., Wang, Y., & Chen, Y. (2023) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2023-331142 · Cited by 169
Genetic variants and functional pathways associated with resilience to Alzheimer’s disease
Dumitrescu, L. C., Mahoney, E. R., Mukherjee, S., Lee, M. L., Bush, W. S., Engelman, C. D., Lu, Q., Fardo, D. W., Trittschuh, E. H., Mez, J., et al. (2020) · Brain · doi:10.1093/brain/awaa209 · Cited by 148
Protective genes and pathways in Alzheimer’s disease: moving towards precision interventions
Seto, M., Weiner, R. L., Dumitrescu, L., & Hohman, T. J. (2021) · Molecular Neurodegeneration · doi:10.1186/s13024-021-00452-5 · Cited by 135
Self-citation
Mitochondrial complex I as a therapeutic target for Alzheimer's disease
Trushina, E. V., Trushin, S., & Hasan, M. F. (2021) · Acta Pharmaceutica Sinica B · doi:10.1016/j.apsb.2021.11.003 · Cited by 131
Genetic architecture of Alzheimer's disease
Neuner, S. M., TCW, J., & Goate, A. M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104976 · Cited by 126
Genome-wide interaction analysis of pathological hallmarks in Alzheimer's disease
Wang, H., Yang, J., Schneider, J. A., Jager, P. L. D., Bennett, D. A. A., & Zhang, H. (2020) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2020.04.025 · Cited by 100
Sex differences in the genetic architecture of cognitive resilience to Alzheimer’s disease
Eissman, J. M., Dumitrescu, L. C., Mahoney, E. R., Smith, A. N., Mukherjee, S., Lee, M. L., Scollard, P., Choi, S. E., Bush, W. S., Engelman, C. D., et al. (2022) · Brain · doi:10.1093/brain/awac177 · Cited by 103
Sex differences in the genetic predictors of Alzheimer’s pathology
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., et al. (2019) · Brain · doi:10.1093/brain/awz206 · Cited by 93
Sex-dependent effect of APOE on Alzheimer's disease and other age-related neurodegenerative disorders
Gamache, J., Yun, Y., & Chiba-Falek, O. (2020) · Disease Models & Mechanisms · doi:10.1242/dmm.045211 · Cited by 84
Latest advances in cerebrospinal fluid and blood biomarkers of Alzheimer’s disease
Milà‐Alomà, M., Suárez‐Calvet, M., & Molinuevo, J. L. (2019) · Therapeutic Advances in Neurological Disorders · doi:10.1177/1756286419888819 · Cited by 81
All (animal) models (of neurodegeneration) are wrong. Are they also useful?
Ransohoff, R. M. (2018) · The Journal of Experimental Medicine · doi:10.1084/jem.20182042 · Cited by 83
Serpin Signatures in Prion and Alzheimer’s Diseases
Zattoni, M., Mearelli, M., Vanni, S., Baldeschi, A. C., Tran, T. H., Ferracin, C., Catania, M., Moda, F., Fede, G. D., Giaccone, G., et al. (2022) · Molecular Neurobiology · doi:10.1007/s12035-022-02817-3 · Cited by 75
Genome-wide association study of Alzheimer’s disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset
Hong, S., Prokopenko, D., Dobričić, V., Kilpert, F., Bos, I., Vos, S. J. B., Tijms, B. M., Andréasson, U., Blennow, K., Vandenberghe, R. R., et al. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-01074-z · Cited by 66
Sex-dependent autosomal effects on clinical progression of Alzheimer’s disease
Fan, C. C., Banks, S. J., Thompson, W. K., Chen, C., McEvoy, L. K., Tan, C. H., Kukull, W. A., Bennett, D. A. A., Farrer, L. A., Mayeux, R. P., et al. (2020) · Brain · doi:10.1093/brain/awaa164 · Cited by 70
Molecular estimation of neurodegeneration pseudotime in older brains
Mukherjee, S., Heath, L. M., Preuß, C., Jayadev, S., Garden, G. A., Greenwood, A. K., Sieberts, S. K., Jager, P. L. D., Ertekin‐Taner, N., Carter, G. W., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19622-y · Cited by 62
Sex Differences in Neurodegeneration: The Role of the Immune System in Humans
Lopez-Lee, C., Kodama, L., & Gan, L. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.01.002 · Cited by 69
rs34331204 regulates TSPAN13 expression and contributes to Alzheimer’s disease with sex differences
Hu, Y., Zhang, H., Liu, B., Gao, S., Wang, T., Han, Z., International Genomics of Alzheimer’s Project (IGAP), Ji, X., & Liu, G. (2020) · Brain · doi:10.1093/brain/awaa302 · Cited by 62
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) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01177-8 · Cited by 58
Sex Differences between Neuronal Loss and the Early Onset of Amyloid Deposits and Behavioral Consequences in 5xFAD Transgenic Mouse as a Model for Alzheimer’s Disease
Poon, C. H., Wong, S. T. N., Roy, J., Wang, Y., Chan, H. W. H., Steinbusch, H. W. M., Blokland, A., Temel, Y., Aquili, L., & Lim, L. W. (2023) · Cells · doi:10.3390/cells12050780 · Cited by 58
Machine learning in the clinical and language characterisation of primary progressive aphasia variants
Matias-Guiu, J. A., Díaz-Álvarez, J., Cuetos, F., Cabrera-Martín, M. N., Segovia-Ríos, I., Pytel, V., Moreno-Ramos, T., Carreras, J. L., Matías-Guiu, J., & Ayala, J. L. (2019) · Cortex · doi:10.1016/j.cortex.2019.05.007 · Cited by 50
Sex differences in the genetic architecture of Alzheimer’s disease
Dumitrescu, L., Mayeda, E. R., Sharman, K., Moore, A. M., & Hohman, T. J. (2019) · Current Genetic Medicine Reports · doi:10.1007/s40142-019-0157-1 · Cited by 48
Quantitative proteomics analysis of young and elderly skin with DIA mass spectrometry reveals new skin aging-related proteins
Ma, J., Liu, M., Wang, Y., Xin, C., Zhang, H., Chen, S., Zheng, X., Zhang, X., Xiao, F.-L., & Yang, S. (2020) · Aging · doi:10.18632/aging.103461 · Cited by 49
Harmonization of CSF and imaging biomarkers in Alzheimer's disease: Need and practical applications for genetics studies and preclinical classification
Timsina, J., Ali, M., Do, A. N., Wang, L., Western, D., Sung, Y. J., & Cruchaga, C. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106373 · Cited by 48
Plasma Markers of Inflammation Linked to Clinical Progression and Decline During Preclinical AD
Gross, A. L., Walker, K. A., Moghekar, A. R., Pettigrew, C., Soldan, A., Albert, M. S., & Walston, J. D. (2019) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2019.00229 · Cited by 49
Dysregulation of Exosome Cargo by Mutant Tau Expressed in Human-induced Pluripotent Stem Cell (iPSC) Neurons Revealed by Proteomics Analyses
Podvin, S., Jones, A. C., Liu, Q., Aulston, B. D., Ransom, L., Ames, J., Shen, G., Lietz, C. B., Jiang, Z., O’Donoghue, A. J., et al. (2020) · Molecular & Cellular Proteomics · doi:10.1074/mcp.ra120.002079 · Cited by 47
Sex Differences in Alzheimer’s Disease: Where Do We Stand?
Medeiros, A. D. M., & Silva, R. H. (2018) · Journal of Alzheimer s Disease · doi:10.3233/jad-180213 · Cited by 42
Gender-Dependent Deregulation of Linear and Circular RNA Variants of HOMER1 in the Entorhinal Cortex of Alzheimer’s Disease
Urdánoz‐Casado, A., de Gordoa, J. S., Robles, M., Acha, B., Roldán, M., Zelaya, M. V., Blanco‐Luquin, I., & Mendióroz, M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22179205 · Cited by 42
APOE ɛ4 Gene Dose and Sex Effects on Alzheimer’s Disease MRI Biomarkers in Older Adults with Mild Cognitive Impairment
Hobel, Z., ageing, F. T. A. D. N. I. A. T. A. I. B. A. L. F. S. O., Isenberg, A. L., Raghupathy, D., Mack, W., & Pa, J. (2019) · Journal of Alzheimer's Disease · doi:10.3233/jad-180859 · Cited by 40
The ROSMAP project: aging and neurodegenerative diseases through omic sciences
Pérez-González, A. P., García-Kroepfly, A. L., Pérez-Fuentes, K. A., García-Reyes, R. I., Solis-Roldan, F. F., Alba-González, J. A., Lemus, E. H., & de Anda‐Jáuregui, G. (2024) · Frontiers in Neuroinformatics · doi:10.3389/fninf.2024.1443865 · Cited by 49
Mitochondrial Dysfunction in Alzheimer’s Disease and Progress in Mitochondria-Targeted Therapeutics
Flannery, P. J., & Trushina, E. V. (2019) · Current Behavioral Neuroscience Reports · doi:10.1007/s40473-019-00179-0 · Cited by 41
Distinct CSF biomarker-associated DNA methylation in Alzheimer’s disease and cognitively normal subjects
Zhang, W., Young, J. I., Gomez, L., Schmidt, M. A., Lukacsovich, D., Varma, A., Chen, X. S., Martin, E. R., & Wang, L. (2023) · Alzheimer s Research & Therapy · doi:10.1186/s13195-023-01216-7 · Cited by 38
Genetics, sex, and gender
Reale, C., Invernizzi, F., Panteghini, C., & Garavaglia, B. (2021) · Journal of Neuroscience Research · doi:10.1002/jnr.24945 · Cited by 47
Genetic and multi-omic resources for Alzheimer disease and related dementia from the Knight Alzheimer Disease Research Center
Fernández, M. V., Liu, M., Beric, A., Johnson, M., Cetin, A., Patel, M. R., Budde, J., Kohlfeld, P., Bergmann, K., Lowery, J., et al. (2024) · Scientific Data · doi:10.1038/s41597-024-03485-9 · Cited by 41
Alzheimer's disease mechanisms in peripheral cells: Promises and challenges
Trushina, E. V. (2019) · Alzheimer s & Dementia Translational Research & Clinical Interventions · doi:10.1016/j.trci.2019.06.008 · Cited by 35
Intersectionality in Alzheimer's Disease: The Role of Female Sex and Black American Race in the Development and Prevalence of Alzheimer's Disease
Misiura, M. B., Butts, B., Hammerschlag, B. L., Munkombwe, C., Bird, A., Fyffe, M., Hemphill, A., Dotson, V. M., & Wharton, W. (2023) · Neurotherapeutics · doi:10.1007/s13311-023-01408-x · Cited by 35
Sex difference in biological change and mechanism of Alzheimer’s disease: From macro- to micro-landscape
Cui, S., Jiang, Q., & Chen, S. (2023) · Ageing Research Reviews · doi:10.1016/j.arr.2023.101918 · Cited by 31
Association of childhood traumatization and neuropsychiatric outcomes with altered plasma micro RNA-levels
der Auwera, S. V., Ameling, S., Wittfeld, K., Rowold, E. D., Nauck, M. A., Völzke, H., Suhre, K., Najafi-Shoushtari, S. H., Methew, J., Ramachandran, V., et al. (2019) · Neuropsychopharmacology · doi:10.1038/s41386-019-0460-2 · Cited by 30
Functional variants identify sex-specific genes and pathways in Alzheimer’s Disease
Bourquard, T., Lee, K. D., Al‐Ramahi, I., Pham, M., Shapiro, D., Lagisetty, Y., Soleimani, S., Mota, S., Wilhelm, K. O., Samieinasab, M., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-38374-z · Cited by 32
Sex differences in the progression to Alzheimer’s disease: a combination of functional and structural markers
Fernández, A., Cuesta, P., Marcos, A., Montenegro-Peña, M., Yus, M., Rodríguez‐Rojo, I. C., Bruña, R., Maestú, F., & López, M. E. (2023) · GeroScience · doi:10.1007/s11357-023-01020-z · Cited by 29
Similar Genetic Architecture of Alzheimer’s Disease and Differential APOE Effect Between Sexes
Wang, H., Lo, M.-T., Rosenthal, S. B., Makowski, C., Andreassen, O. A., Salem, R. M., McEvoy, L. K., Fiecas, M. J. A., & Chen, C. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.674318 · Cited by 27
Sex-Specific Genetic Associations for Barrett’s Esophagus and Esophageal Adenocarcinoma
Dong, J., Maj, C., Tsavachidis, S., Ostrom, Q. T., Gharahkhani, P., Anderson, L. A., Wu, A. H., Ye, W., Bernstein, L., Borisov, O., et al. (2020) · Gastroenterology · doi:10.1053/j.gastro.2020.08.052 · Cited by 28
Sex Differences in Apolipoprotein E and Alzheimer Disease Pathology Across Ancestries
Xu, X., Kwon, J., Yan, R., Apio, C., Song, S. C., Heo, G., Yang, Q., Timsina, J., Liu, M., Budde, J., et al. (2025) · JAMA Network Open · doi:10.1001/jamanetworkopen.2025.0562 · Cited by 30
Chronic nSMase inhibition suppresses neuronal exosome spreading and sex-specifically attenuates amyloid pathology in APP knock-in Alzheimer's disease mice
Mowry, F. E., Espejo‐Porras, F., Jin, S., Quadri, Z., Wu, L., Bertolio, M., Jarvis, R., Reynolds, C. R., Alananzeh, R., Bieberich, E., et al. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106213 · Cited by 27
Genetic characterization of the ALFA study: Uncovering genetic profiles in the Alzheimer's continuum
Vilor‐Tejedor, N., Genius, P., Rodríguez‐Fernández, B., Minguillón, C., Sadeghi, I., González‐Escalante, A., Crous‐Bou, M., Suárez‐Calvet, M., Grau‐Rivera, O., Brugulat‐Serrat, A., et al. (2023) · Alzheimer s & Dementia · doi:10.1002/alz.13537 · Cited by 21
Mitochondrial defects: An emerging theranostic avenue towards Alzheimer's associated dysregulations
Mani, S., Swargiary, G., Singh, M., Agarwal, S., Dey, A., Ojha, S. K., & Jha, N. K. (2021) · Life Sciences · doi:10.1016/j.lfs.2021.119985 · Cited by 24
Integrated Analysis of Cortex Single-Cell Transcriptome and Serum Proteome Reveals the Novel Biomarkers in Alzheimer’s Disease
Yu, Q.-S., Feng, W.-Q., Shi, L., Niu, R., & Liu, J. (2022) · Brain Sciences · doi:10.3390/brainsci12081022 · Cited by 22
Sex Moderates Amyloid and Apolipoprotein ε4 Effects on Default Mode Network Connectivity at Rest
Caldwell, J., Zhuang, X., Leavitt, M. J., Banks, S. J., Cummings, J. L., Cordes, D., & Initiative, T. A. D. N. (2019) · Frontiers in Neurology · doi:10.3389/fneur.2019.00900 · Cited by 26
Sexual Dimorphism in Neurodegenerative Diseases and in Brain Ischemia
Zalewska, T., Pawelec, P., Ziąbska, K., & Ziemka‐Nałęcz, M. (2022) · Biomolecules · doi:10.3390/biom13010026 · Cited by 23
Single-cell transcriptomic atlas of Alzheimer's disease middle temporal gyrus reveals region, cell type, and sex specificity of gene expression with novel genetic risk for MERTK in female
Zhang, L., Liu, T., He, C. H., Russo, A., Coffey, S., Yin, D., Hsu, I.-U., Zhang, C., Ye, Y., Su, C., et al. (2026) · Journal of Alzheimer’s Disease · doi:10.1177/13872877261480719 · Cited by 22
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) · Hereditas · doi:10.1186/s41065-022-00252-x · Cited by 23
Alzheimer's disease-like pathology induced by Porphyromonas gingivalis in middle-aged mice is mediated by NLRP3 inflammasome via the microbiota-gut-brain axis
Zhang, P., Liu, Y., Jin, X., Hu, Z., Yang, J., Lu, H. X., Hang, T., & Song, M. O. (2024) · Journal of Alzheimer s Disease · doi:10.1177/13872877241302498 · Cited by 20
The biological function of Serpinb9 and Serpinb9-based therapy
Huang, H., Mu, Y., & Li, S. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1422113 · Cited by 20
Sex differences and the role of estrogens in the immunological underpinnings of Alzheimer's disease
Price, B. R., Walker, K. A., Eissman, J. M., Suryadevara, V., Sime, L. N., Hohman, T. J., & Gordon, M. N. (2025) · Alzheimer s & Dementia Translational Research & Clinical Interventions · doi:10.1002/trc2.70139 · Cited by 25
Female-Specific Susceptibility Locus in BOC and SEC16B are Associated with Adolescent Idiopathic Scoliosis
Dai, Z., Wang, Y., Wu, Z., Feng, Z., Sun, X., Qiu, Y., Cheng, J. C. Y., Xu, L., & Zhu, Z. (2021) · Spine · doi:10.1097/brs.0000000000004098 · Cited by 19
Sex Differences in in vivo Alzheimer’s Disease Neuropathology in Late Middle-Aged Hispanics
Luchsinger, J. A., Palta, P., Rippon, B., Soto, L., Ceballos, F., Pardo, M., Laing, K. K., Igwe, K. C., Johnson, A. S., Tomljanovic, Z., et al. (2020) · Journal of Alzheimer s Disease · doi:10.3233/jad-191183 · Cited by 18
The heritability of blood‐based biomarkers related to risk of Alzheimer's disease in a population‐based sample of early old‐age men
Gillespie, N. A., Elman, J. A., McKenzie, R. E., Tu, X. M., Xian, H., Reynolds, C. A., Panizzon, M. S., Lyons, M. J., Eglit, G. M. L., Neale, M. C., et al. (2023) · Alzheimer s & Dementia · doi:10.1002/alz.13407 · Cited by 13
IL-34 exacerbates pathogenic features of Alzheimer’s disease and calvaria osteolysis in triple transgenic (3x-Tg) female mice
Ho, A., Ngala, B., Yamada, C., Garcia, C., Duarte, C. L., Akkaoui, J., Ciolac, D., Nusbaum, A., Kochen, W. R., Efremova, D., et al. (2023) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2023.115435 · Cited by 15
Pursuit of precision medicine: Systems biology approaches in Alzheimer's disease mouse models
Gurdon, B., & Kaczorowski, C. C. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105558 · Cited by 16
Unsupervised machine learning to identify separable clinical Alzheimer’s disease sub-populations
Prakash, J., Wang, V., Quinn, R. E., & Mitchell, C. S. (2021) · Brain Sciences · doi:10.3390/brainsci11080977 · Cited by 17
The Effect of Gender and APOE ɛ4 Status on Brain Amyloid-β Deposition in Different Age Groups of Mild Cognitively Impaired Individuals: A PET-CT Study
Wang, J., Wang, M., Ren, S., Huang, L., He, K., Li, J., Hua, F., Guan, Y., Guo, Q., Huang, Q., et al. (2023) · Journal of Alzheimer s Disease · doi:10.3233/jad-221166 · Cited by 15
Polygenic Effect on Tau Pathology Progression in Alzheimer's Disease
Rubinski, A., Frerich, S., Malik, R., Franzmeier, N., Ramı́rez, A., Dichgans, M., Ewers, M., & Initiative, A. D. N. (2022) · Annals of Neurology · doi:10.1002/ana.26588 · Cited by 15
Intranasal NAP (Davunetide): Neuroprotection and circadian rhythmicity
Galushkin, A., & Gozes, I. (2025) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2025.115573 · Cited by 14
A case for seeking sex-specific treatments in Alzheimer’s disease
Lynch, M. A. (2024) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2024.1346621 · Cited by 16
Sex-related differences in genetically determined Alzheimer’s disease
Soriano, L. D. H., Wagemann, O., Bejanin, A., Levin, J., & Fortea, J. (2025) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2025.1522434 · Cited by 16
Sex-specific associations of gene expression with Alzheimer’s disease neuropathology and ante-mortem cognitive performance
Seto, M., Clifton, M. J., Gomez, M. L., Coughlan, G., Gifford, K. A., Jefferson, A. L., Jager, P. L. D., Bennett, D. A., Wang, Y., Barnes, L. L., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-64525-5 · Cited by 15
Digital Clock Drawing as an Alzheimer's Disease Susceptibility Biomarker: Associations with Genetic Risk Score and APOE in Older Adults
Thompson, L. I., Cummings, M., Emrani, S., Libon, D. J., Ang, T. F. A., Karjadi, C., Au, R., & Liu, C. (2023) · The Journal of Prevention of Alzheimer s Disease · doi:10.14283/jpad.2023.48 · Cited by 10
Leveraging Diverse Regulated Cell Death Patterns to Identify Diagnosis Biomarkers for Alzheimer's Disease
Ren, L., Zhang, Q., Zhou, J., Wang, X., Zhu, D., & Chen, X. (2024) · The Journal of Prevention of Alzheimer s Disease · doi:10.14283/jpad.2024.119 · Cited by 10
Leveraging multiomic approaches to elucidate mechanisms of heterogeneity in Alzheimer's disease: Neuropsychiatric symptoms, co‐pathologies, and sex differences
Shwab, E. K., Pathak, G. A., Harvey, J., Belloy, M. E., Fischer, C. E., Lutz, M. W., Scholz, S. W., Cook, N., Reid, D. M., Chen, J., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70549 · Cited by 12
Biobank-wide association scan identifies risk factors for late-onset Alzheimer’s disease and endophenotypes
Yan, D., Hu, B., Darst, B. F., Mukherjee, S., Kunkle, B. W., Deming, Y. K., Dumitrescu, L. C., Wang, Y., Naj, A. C., Kuzma, A. B., et al. (2023) · eLife · doi:10.7554/elife.91360 · Cited by 11
Therapeutic assessment of a novel mitochondrial complex I inhibitor in in vitro and in vivo models of Alzheimer's disease
Trushin, S., Nguyen, T. K. O., Stojakovic, A., Ostroot, M., Deason, J. T., Chang, S.-Y., Zhang, L., Macura, S. I., Nambara, T., Lü, W., et al. (2025) · EBioMedicine · doi:10.1016/j.ebiom.2025.105924 · Cited by 10
Biobank-wide association scan identifies risk factors for late-onset Alzheimer’s disease and endophenotypesPreprint
Yan, D., Hu, B., Darst, B. F., Mukherjee, S., Kunkle, B. W., Deming, Y. K., Dumitrescu, L. C., Wang, Y., Naj, A. C., Kuzma, A. B., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/468306 · Cited by 9
On the journey to uncover the causes of selective cellular and regional vulnerability in neurodegeneration
Jaunmuktane, Z., & Brandner, S. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02079-9 · Cited by 7
LncRNA SERPINB9P1 expression and polymorphisms are associated with ischemic stroke in a Chinese Han population
Huang, J., Zhu, L., Zhao, X., Wu, X., Yang, J., Xu, B., Zhao, Z. G., Gu, L., & Su, L. (2021) · Neurological Sciences · doi:10.1007/s10072-021-05418-5 · Cited by 7
CSF proteomic profiling with amyloid/tau positivity identifies distinctive sex-different alteration of multiple proteins involved in Alzheimer’s diseasePreprint
Do, A. N., Ali, M., Timsina, J., Wang, L., Western, D., Liu, M., Sanford, J., Rosende-Roca, M., Boada, M., Puerta, R., et al. (2024) · medRxiv · doi:10.1101/2024.03.15.24304164 · Cited by 6
Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2
Almaguer-Mederos, L. E., Key, J., Şen, N.-E., Canet-Pons, J., Döring, C., Meierhofer, D., Gispert-Sánchez, S., Cuello‐Almarales, D., Almaguer‐Gotay, D., Osorio-González, L. M., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-29070-7 · Cited by 5
Single‐cell landscape of sex‐specific drivers of Alzheimer's disease
Wu, Y., Travaglini, K. J., Gabitto, M. I., Keene, C. D., Dunn, A. R., Kaczorowski, C. C., Jager, P. L. D., Menon, V., Schneider, J. A., Bennett, D. A. A., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.71041 · Cited by 9
Module Analysis Using Single-Patient Differential Expression Signatures Improves the Power of Association Studies for Alzheimer's Disease
Huang, J., Lu, D., & Meng, G. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.571609 · Cited by 4
Neuropathological and sociodemographic factors associated with the cortical amyloid load in aging and Alzheimer’s disease
da Silva, S. P., Castro, C. C. M., Rabelo, L. N., Engelberth, R. C. G. J., Fernández‐Calvo, B., & Fiuza, F. P. (2023) · GeroScience · doi:10.1007/s11357-023-00982-4 · Cited by 6
Sex-dependent effect of sublethal copper concentrations on de novo cholesterol synthesis in astrocytes and their possible links to variations in cholesterol and amyloid precursor protein levels in neuronal membranes
Zubillaga, M., Tau, J., Rosa, D. E., Bellini, M. J., & Arnal, N. (2024) · Biology of Sex Differences · doi:10.1186/s13293-023-00578-9 · Cited by 4
Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases
Farias, F., Benítez, B. A., & Cruchaga, C. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105247 · Cited by 4
Sex differences in CSF biomarkers of Alzheimer’s disease
Mielke, M. M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-819344-0.00012-0 · Cited by 4
Diverse genetic alteration dysregulates neuropeptide and intracellular signalling in the suprachiasmatic nuclei
Curtis, L., & Piggins, H. D. (2024) · European Journal of Neuroscience · doi:10.1111/ejn.16443 · Cited by 3
“When sex influences the brain: implications for Alzheimer disease”
Frosch, M. P. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1931-y · Cited by 3
Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k -Fold Cross-Validation
Osterman, M. D., Song, Y. E., Lynn, A., Miskimen, K. L. S., Wheeler, N. R., Bartlett, J., Farrer, L. A., Schellenberg, G. D., Martin, E. R., Pericak‐Vance, M. A., et al. (2024) · Neurology Genetics · doi:10.1212/nxg.0000000000200198 · Cited by 3
Genome-wide association studies of Alzheimer’s disease and related disorders stratified by sex, onset age, and Apolipoprotein E genotype reveal novel risk loci in African Americans
Sherva, R., Zhu, C., Zhang, R., Mez, J., Hauger, R. L., Merritt, V. C., Panizzon, M. S., Gaziano, J. M., Catanzaro, V., Schellenberg, G. D., et al. (2025) · Alzheimer s Research & Therapy · doi:10.1186/s13195-025-01782-y · Cited by 2
Genetic regulation of the metabolome differs by sex, Alzheimer's disease stage, and plasma biomarker status
Eissman, J. M., Qiao, M., Kalia, V., Zerlin, M., Reyes‐Dumeyer, D., Piriz, A. L., Dubey, S., Nandakumar, R., Lee, A., Lantigua, R., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70898 · Cited by 4
Leveraging sex-genetic interactions to understand brain disorders: recent advances and current gaps
Neale, N., Lona‐Durazo, F., Ryten, M., & Taliun, S. A. G. (2024) · Brain Communications · doi:10.1093/braincomms/fcae192 · Cited by 3
Mitofusin-2 gene polymorphisms and metabolic dysfunction associated fatty liver disease: a case-control study in a Chinese population
Yuan, X., Hou, M., Wang, Y., Zhang, S., Li, L., Mi, Y.-J., Du, H., Yu, S., & Nan, Y. (2023) · Journal of International Medical Research · doi:10.1177/03000605231187953 · Cited by 2
Sex-specific genetic regulation of proteomics in cerebrospinal fluid uncovers genetic causes for sex differences in neurodegenerationPreprint
Song, S., Do, A. N., Wang, L., Heo, G., Kwon, J., Western, D., Yang, S. J., Timsina, J., Liu, M., Budde, J., et al. (2025) · medRxiv · doi:10.1101/2025.10.29.25339064 · Cited by 2
Women and Alzheimer's disease
Schindler, E., & Reddy, P. H. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-15256-6.00001-5 · Cited by 1
Comparison and aggregation of event sequences across ten cohorts to describe the consensus biomarker evolution in Alzheimer’s diseasePreprint
Khatami, S. G., Salimi, Y., Hofmann‐Apitius, M., Oxtoby, N. P., Birkenbihl, C. J., Initiative, A. D. N., Initiative, T. J. A. D. N., & the Alzheimer’s Disease Repository Without Borders Investigators (2021) · medRxiv · doi:10.1101/2021.11.14.21266316 · Cited by 1
Biobank-wide association scan identifies risk factors for late-onset Alzheimer’s disease and endophenotypesPreprint
Yan, D., Hu, B., Darst, B. F., Mukherjee, S., Kunkle, B. W., Deming, Y. K., Dumitrescu, L. C., Wang, Y., Naj, A. C., Kuzma, A. B., et al. (2023) · eLife · doi:10.7554/elife.91360.1 · Cited by 1
Opposing effects of histone H2A.Z on memory, transcription and pathology in male and female Alzheimer’s disease mice and patientsPreprint
Luo, J., Hategan, L. A., Creighton, S. D., Hua, S., McLean, T. A. B., Dahi, T. A., Jin, Z., Pirri, F., Winston, S. M., Reeves, I. L., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.05.28.656659 · Cited by 1
Polygenic effect on accelerated tau pathology accumulation in Alzheimer’s disease: implications for patient selection in clinical trialsPreprint
Rubinski, A., Frerich, S., Malik, R., Franzmeier, N., Ramírez, A., Dichgans, M., Ewers, M., & Initiative, A. D. N. (2021) · medRxiv · doi:10.1101/2021.11.02.21265788
Identificación de circRNAs como biomarcadores epigenéticos candidatos en la enfermedad de Alzheimer
Urdánoz‐Casado, A. (2022) · Academica-e (Universidad Pública de Navarra) · doi:10.48035/tesis/2454/43427
The genetic and environmental etiology of blood-based biomarkers related to risk of Alzheimer’s Disease in a population-based sample of early old-age menPreprint
Gillespie, N. A., Rissman, R. A., Elman, J. A., McKenzie, R. E., Tu, X. M., Xian, H., Reynolds, C. A., Panizzon, M. S., Lyons, M. J., Eglit, G. M. L., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.08.09.503234

Authors: (ADNI), A. D. N. I., Deming, Y., The Alzheimer Disease Genetics Consortium (ADGC), Dumitrescu, L., Barnes, L. L., Thambisetty, M., Kunkle, B., Gifford, K. A., Bush, W. S., Chibnik, L. B., Mukherjee, S., De Jager, P. L., Kukull, W., Huentelman, M., Crane, P. K., Resnick, S. M., Keene, C. D., Montine, T. J., Schellenberg, G. D., Haines, J. L., Zetterberg, H., Blennow, K., Larson, E. B., Johnson, S. C., Albert, M., Moghekar, A., del Aguila, J. L., Fernandez, M. V., Budde, J., Hassenstab, J., Fagan, A. M., Riemenschneider, M., Petersen, R. C., Minthon, L., Chao, M. J., Van Deerlin, V. M., Lee, V. M.-Y., Shaw, L. M., Trojanowski, J. Q., Peskind, E. R., Li, G., Davis, L. K., Sealock, J. M., Cox, N. J., Goate, A. M., Bennett, D. A., Schneider, J. A., Jefferson, A. L., Cruchaga, C., & Hohman, T. J.
Affiliations: Vanderbilt University (US)
Rush University Medical Center (US)
National Institutes of Health (US)
Harvard University (US)
Brigham and Women's Hospital (US)
University of Washington (US)
Translational Genomics Research Institute (US)
Stanford Medicine (US)
Case Western Reserve University (US)
Sahlgrenska University Hospital (SE)
University of Wisconsin–Madison (US)
Johns Hopkins University (US)
Washington University in St. Louis (US)
Mayo Clinic (US)
Lund University (SE)
University of Pennsylvania (US)
Corresponding author: Hohman, Timothy J.
ORCID: Deming, Yuetiva
Dumitrescu, Logan
Barnes, Lisa L.
Thambisetty, Madhav
Kunkle, Brian
Gifford, Katherine A.
Bush, William S.
Chibnik, Lori B.
Mukherjee, Shubhabrata
Kukull, Walter
Crane, Paul K.
Resnick, Susan M.
Keene, C. Dirk
Montine, Thomas J.
Schellenberg, Gerard D.
Haines, Jonathan L.
Zetterberg, Henrik
Blennow, Kaj
Larson, Eric B.
Johnson, Sterling C.
Albert, Marilyn
Moghekar, Abhay
Budde, John
Hassenstab, Jason
Fagan, Anne M.
Petersen, Ronald C.
Lee, Virginia M.-Y.
Shaw, Leslie M.
Trojanowski, John Q.
Peskind, Elaine R.
Davis, Lea K.
Sealock, Julia M.
Cox, Nancy J.
Goate, Alison M.
Bennett, David A.
Schneider, Julie A.
Jefferson, Angela L.
Cruchaga, Carlos
Hohman, Timothy J.
Venue: Acta Neuropathologica
Publisher: Springer Science and Business Media LLC
Published: 2018-07-02
Volume: 136
Issue: 6
Pages: 857-872
ISSN: 0001-6322 (ISSN-L)
1432-0533
DOI: 10.1007/s00401-018-1881-4
PMC: PMC6280657
OpenAlex: W2811424297
Cited by: 110
References: 51
Citations by year: 2026: 6 · 2025: 16 · 2024: 13 · 2023: 19 · 2022: 8 · 2021: 18 · 2020: 13 · 2019: 12 · 2018: 5
FWCI: 8.40
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Acta Neuropathologica (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
eScholarship (California Digital Library) (submittedVersion)
UCL Discovery (University College London) (submittedVersion)
Lund University Publications (Lund University) (submittedVersion)
Funders: National Institute of Mental Health (T32MH014877)
National Institutes of Health (R01 AG048015, K01 AG049164)
German Federal Ministry of Education and Research National Genome Research Network (01GS08125)
National Institute on Aging (P50 AG005146, P50 AG016574, P30 AG010161, P30 AG010124)
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, amyloid-beta 42, tau protein, cerebrospinal fluid biomarkers, endophenotypes, sex interaction, SERPINB1, SERPINB9, prefrontal cortex gene expression, amyloid plaques, neurofibrillary tangles, Religious Orders Study, Rush Memory and Aging Project
MeSH terms: Aged, 80 and over, Alzheimer Disease, Amyloidosis, Apolipoproteins E, Brain, Female, Genotype, Humans, Male, Muscle Proteins, Mutation, Peptide Fragments, Sex Factors, Transcription Factors, Biomarkers, Serpins, Amyloid beta-Peptides, tau Proteins, Genome-Wide Association Study, Claudins

About these checks

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.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Sex-specific genetic predictors of Alzheimer’s disease biomarkers

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks