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Apolipoprotein E (APOE) genotype-associated disease risks: a phenome-wide, registry-based, case-control study utilising the UK Biobank
Open accessAbstract
Background The three main alleles of the APOE gene (ε4, ε3 and ε2) carry differential risks for conditions including Alzheimer's disease (AD) and cardiovascular disease. Due to their clinical significance, we explored disease associations of the APOE genotypes using a hypothesis-free, data-driven, phenome-wide association study (PheWAS) approach. Methods We used data from the UK Biobank to screen for associations between APOE genotypes and over 950 disease outcomes using genotype ε3ε3 as a reference. Data was restricted to 337,484 white British participants (aged 37–73 years). Findings After correction for multiple testing, PheWAS analyses identified associations with 37 outcomes, representing 18 distinct diseases. As expected, ε3ε4 and ε4ε4 genotypes associated with increased odds of AD (p ≤ 7.6 × 10 −46 ), hypercholesterolaemia (p ≤ 7.1 × 10 −17 ) and ischaemic heart disease (p ≤ 2.3 × 10 −4 ), while ε2ε3 provided protection for the latter two conditions (p ≤ 3.7 × 10 −10 ) compared to ε3ε3. In contrast, ε4-associated disease protection was seen against obesity, chronic airway obstruction, type 2 diabetes, gallbladder disease, and liver disease (all p ≤ 5.2 × 10 −4 ) while ε2ε2 homozygosity increased risks of peripheral vascular disease, thromboembolism, arterial aneurysm, peptic ulcer, cervical disorders, and hallux valgus (all p ≤ 6.1 × 10 −4 ). Sensitivity analyses using brain neuroimaging, blood biochemistry, anthropometric, and spirometric biomarkers supported the PheWAS findings on APOE associations with respective disease outcomes. Interpretation PheWAS confirms strong associations between APOE and AD, hypercholesterolaemia, and ischaemic heart disease, and suggests potential ε4-associated disease protection and harmful effects of the ε2ε2 genotype, for several conditions. Funding National Health and Medical Research Council of Australia.
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“By contrast, in the same registries, APOEε2 has been associated with lower LDL cholesterol levels, increased triglyceride levels and increased risk of peripheral vascular disease87,88.”
From Multifaceted roles of APOE in Alzheimer disease (2024) · cites this paper as [88]
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“Besides AD43, APOE has been associated with at least eighteen other diseases, including heart disease and high cholesterol44.”
From Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease (2024) · cites this paper as [44]
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“APOE genotype was determined using SNP data at rs429358 and rs7412, which define the three major APOE isoforms (ε2, ε3, and ε4) based on established haplotypes. Genotypes were assigned according to allele combinations, consistent with prior UK Biobank studies,79”
From TET2-mutant myeloid cells mitigate Alzheimer’s disease progression via CNS infiltration and enhanced phagocytosis in mice (2025) · cites this paper as [79]
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“a risk increase also recently reported cross-sectionally in the UK Biobank [42]”
From APOE and vascular disease: Sequencing and genotyping in general population cohorts (2023) · cites this paper as [42]
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“In large health registries such as the UK BioBank, the APOEε4 allele has been associated with higher LDL cholesterol and triglycerides levels, lower HDL cholesterol levels and an increased risk of coronary artery disease.”
From Multifaceted roles of APOE in Alzheimer disease (2024) · cites this paper as [88]
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“1 £ 10 4 to control for multiple testing [10], accounting for all comparisons across the five PheWASs.”
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“Participants provided electronic consent to use their anonymised data and samples for healthrelated research, to be re-contacted for further sub-studies, and for the UK Biobank to access their health-related records [5].”
BackgroundMethodThe UK Biobank resource with deep phenotyping and genomic data
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“Our analyses were restricted to 337,484 unrelated white British individuals (established by self-report and genetic data) [6] who had consistent information between self-reported and genetic sex (appendix p 35 figure S2).”
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“For each phecode, we coded individuals with the phecode-ofinterest as cases, whilst participants without a phecode within the same category were considered the control group [8].”
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“The homozygous e2e2 genotype increased the odds for a distinct set of disease outcomes not associated with other genotypes, suggesting that these conditions stem from a homozygous loss of APOE function specific to the e2 variant, such as its inability to bind the LDL receptor [22].”
BackgroundR PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment
Carroll, R. J., Bastarache, L. A., & Denny, J. C. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu197 · Cited by 435
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“Chronologically, e4 is believed to be the ancestral allele from which the e3 and e2 variants sequentially evolved over 200,000 years ago [1].”
BackgroundOxidized LDL triggers changes in oxidative stress and inflammatory biomarkers in human macrophages
Lara-Guzmán, O. J., Gil-Izquierdo, Á., Medina, S., Osorio, E., Álvarez-Quintero, R., Zuluaga, N., Oger, C., Galano, J.-M., Durand, T., & Muñoz-Durango, K. (2018) · Redox Biology · doi:10.1016/j.redox.2017.11.017 · Cited by 194 · cited 7×
“As is typically reported, e2e3 and e2e4 were protective for hypercholesterolaemia compared to e3e3 (with lower levels of “bad” cholesterol indicators; total cholesterol, LDL and APOB). e2e3 also had increased levels of “good” cholesterol indicators (HDL-cholesterol and APOA) and was associated with reduced risk of IHD…”
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“The polymorphisms affect the binding affinities of APOE for lipid and the LDLR (appendix p 34 figure S1), resulting in various effects on biomarkers of lipid and cholesterol health, and differential risks of a variety of health outcomes [2].”
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“37 It is noteworthy that the same allele is also connected to an increased likelihood of developing AD.”
BackgroundFeatures of Lipid Metabolism in Humanized ApoE Knockin Rat Models
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“Recently, a meta-analysis revealed that ApoE4 increases the risk for heart disease [39], while ApoE2 increases the risks of peripheral artery disease, arterial aneurysm, and arterial thromboembolism [40,41].”
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“The APOEε4 allele, in particular, is associated with a significantly heightened risk of developing AD, with homozygous carriers facing up to a 15-fold increased risk [100, 115, 116].”
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“APOE alleles/genotypes were determined based on a combination of two missense variants in the gene (rs429358 and rs7412) [13].”
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Anderle, S., Bonnar, O., Henderson, J., Shaw, K., Chagas, A. M., McMullan, L., Webber, A., Mcgowan, K., King, S. L., & Hall, C. N. (2025) · Communications Biology · doi:10.1038/s42003-025-07585-z · Cited by 5
“At each time point, data points were normalised to the average value of APOE3 exercise mice to remove any variability due potential changes in sensitivity of the Oxy-CBF probe over time between data collection for cohorts 2 and 3.”
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APOE ε4 carriage associates with improved myocardial performance from adolescence to older age
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“Research utilizing the UK Biobank indicated that APOE4 carriers were at an increased risk of AD, with a 13-fold increase in risk for APOE4 homozygotes [6].”
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“17 However inter-individual WMHV variation is likely to be genetically complex and multifaceted, with some initial evidence that a non-APOE association between AD polygenic risk score (AD-PRS) is linked to WMH features via pathways such as cell migration and clearance.”
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“Other factors including the effects of APOE4 on vascular biology and cardio-vascular health (Bennet et al., 2007; Lumsden et al., 2020; Yamazaki et al., 2019) that may indirectly influence skeletal muscle mitochondria could also underly these findings.”
APOE ε4 and Risk of Intracranial Hemorrhage in Patients With Atrial Fibrillation Taking Apixaban
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Examining the link between 179 lipid species and 7 diseases using genetic predictors
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“This SNP is situated about 14 kb from the SNPs that define APOE status, a gene whose variants are well-established for impacting the risk of Alzheimer’s and cardiovascular disease [47].”
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“4,12 Most knowledge on ε 2-related mechanisms is based on animal or cell studies, the results of which suggest that protective mechanisms may be related to a more efficient amyloid clearance, altered lipid metabolism, and neurotrophic effects to maintain synaptic functioning.”
Guan, Y., Cheng, C. H., Bellomo, L. I., Narain, S., Bigornia, S., Garelnabi, M., Scott, T. M., Ordovás, J. M., Tucker, K. L., Bhadelia, R. A., et al. (2023) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2023.1285333 · Cited by 4
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Is the Relationship Between Cardiovascular Disease and Alzheimer’s Disease Genetic? A Scoping Review
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“, cholesterol, LDL, and ApoB) for each ApoE genotype with reference to ε3ε3 in a UK Biobank study [45].”
BackgroundOzen, E., Lovegrove, J. A., & Jackson, K. G. (2024) · Proceedings of The Nutrition Society · doi:10.1017/s0029665124000053 · Cited by 4
Johnson, C. N., Lysaker, C. R., Gast, E. C., McCoin, C. S., Kemna, R. E., Fuller, K. N. Z., Kugler, B. A., Franczak, E., Csikós, V., Allen, J., et al. (2025) · Function · doi:10.1093/function/zqaf017 · Cited by 3
Suswidiantoro, V., Tang, K. S., Rahman, K., Puteri, M. U., Wahyuni, T., Ariestanti, D. M., James, R. J., Yan, C. C., Kato, M., & Saputri, F. C. (2026) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2026.101248 · Cited by 4
A Age Related Vascular Senescence: Mystery of Blood-brain Barrier Dysfunction in Neurodegeneration
Behl, T., Jayabalan, K., Ballal, S., Sahoo, S., Chellammal, H. S. J., Gulati, M., Anand, K., Jha, S. K., & Gasmi, A. (2026) · Molecular Neurobiology · doi:10.1007/s12035-026-05984-9 · Cited by 3
Semaev, S., Щербакова, Л. В., Orlov, P. S., Иванощук, Д. Е., Malyutina, S. K., Гафаров, В. В., Voevoda, M. I., Ragino, Y. I., & Шахтшнейдер, Е. В. (2024) · Ateroscleroz · doi:10.52727/2078-256x-2024-20-2-121-135 · Cited by 3
Olfactory Receptors and Aortic Aneurysm: Review of Disease Pathways
Stougiannou, T. M., Christodoulou, K. C., & Karangelis, D. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13247778 · Cited by 3
“More specifically, ApoE variants can modulate risk for aortic aneurysm disease, with E3/E4 genotypes mitigating aneurysmal expansion and homozygous E3/E3 and E2/E2 genotypes increasing associated risk [165].”
Chintapalli, R., Mowforth, O. D., & Davies, B. M. (2025) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2025.111247 · Cited by 3
APOE genotype and biological age impact inter-omic associations related to bioenergetics
Ellis, D., Watanabe, K., Wilmanski, T. M., Lustgarten, M. S., Korat, A. V. A., Glusman, G., Hadlock, J., Fiehn, O., Sebastiani, P., Price, N. D., et al. (2025) · Aging · doi:10.18632/aging.206243 · Cited by 5
Шахтшнейдер, Е. В., Иванощук, Д. Е., Ragino, Y. I., Fishman, V., Polonskaya, Y. V., Kashtanova, E. V., Chernyavsky, A. M., Murashov, I. S., & Voevoda, M. I. (2022) · Сибирский журнал клинической и экспериментальной медицины · doi:10.29001/2073-8552-2021-36-4-156-163 · Cited by 3
Stolfo, G. D., Pacilli, M. A., Seripa, D., Luca, G. D., Urbano, M., Coli, C., Gravina, C., Greco, A., Potenza, D. R., Salvatori, M. P., et al. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12165178 · Cited by 3
Roy, D. G., Singh, L., Chaturvedi, H. K., & Chinnaswamy, S. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2292 · Cited by 3
“…corrections like the Bonferroni may not always be necessary (Pendergrass et al., 2013) and alternate approaches like choosing those variants that are known to have pleiotropic effects in Phe-WAS may be the way forward (Hackinger & Zeggini, 2017; Lumsden et al., 2020; Pendergrass et al., 2013).”
APOE ε4 and Intracerebral Hemorrhage in Patients With Brain Arteriovenous Malformation
Renedo, D. B., Rivier, C. A., Koo, A. B., Sujijantarat, N., Clocchiatti‐Tuozzo, S., Wu, K., Torres‐Lopez, V., Huo, S., Günel, M., de Havenon, A., et al. (2024) · JAMA Network Open · doi:10.1001/jamanetworkopen.2023.55368 · Cited by 3
Association between household size and risk of incident dementia in the UK Biobank study
Cong, C., Li, P., Qiao, Y., Li, Y., Yang, J., Zhao, L., Zhu, X., Tian, S., Cao, S.-S., Liu, J., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-61102-6 · Cited by 3
“Biological factors comprised body mass index (BMI) ( 18.5, 18.5–24.9, 25.0–29.9, ≥ 30.0 kg/m 2 ) 23 , APOE genotype (non-ε4-carrier, one-ε4-carrier, two-ε4-carrier) 24,25 , diabetes, stroke and high blood pressure.”
InfluentialHe, J., Cabrera‐Mendoza, B., Friligkou, E., Mecca, A. P., van Dyck, C. H., Pathak, G. A., & Polimanti, R. A. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70215 · Cited by 4
“46 Because this is a biological risk factor, it isless likelyto be affected by biases related to self-reported family history.”
Merchant, A. T., Zhao, L., Bawa, E. M., Yaseri, A. F., Lohman, M. C., Zhang, J., Clay‐Gilmour, A., Newman‐Norlund, R., & Fridriksson, J. (2025) · Journal of Alzheimer s Disease Reports · doi:10.1177/25424823251370770 · Cited by 4
“APOE4 allele carriers are at higher risk of AD, cardiovascular disease, and several other conditions increasing their risk of death 22,30,31 which would make them less likely to be participants of a cross-sectional survey (survival bias).”
Meng, W., Yang, Q., Xu, J., Huang, Y., Wang, C., Song, Q., Song, L., Bian, J., Ma, Q., Ma, A., et al. (2026) · EBioMedicine · doi:10.1016/j.ebiom.2026.106391 · Cited by 3
Robust Serum Proteomic Signatures of APOE2Preprint
Paola Sebastiani, B., Reed, E. R., Chandler, K. B., Lopez, P., Lords, H. J., Bae, H. T., Costello, C. E., Au, M. B., Deng, L. L., Li, M., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.05.24.655950 · Cited by 3
Takahashi, N., Campbell, K. R., Nakada, T., & Walley, K. R. (2025) · Critical Care Medicine · doi:10.1097/ccm.0000000000006809 · Cited by 2
The contribution of apolipoprotein E genetic variation to dementia risk in British South Asians
Jacobs, B. M., Chandra, A., Foote, I. F., Durrani, F., Waters, S., Liu, Y., Proitsi, P., Maher, E. R., Chaudhary, S., Gafton, J., et al. (2026) · Brain Communications · doi:10.1093/braincomms/fcag141 · Cited by 2
“24 The major limitations of this work are the relatively young age of the cohort and hence risk of incomplete ascertainment (many participants who will develop dementia in the future have not yet developed it) and the limited phenotyping of dementia cases, which relies on electronic healthcare…”
Paudel, P., Sah, A., & Paudel, P. (2025) · Clinical Genetics · doi:10.1111/cge.70064 · Cited by 4
A Robust Serum Proteomic Signature of the E2 Allele of Apolipoprotein E
Sebastiani, P., Reed, E. R., Chandler, K. B., Lopez, P., Lords, H. J., Bae, H. T., Costello, C. E., Au, M. B., Deng, L. L., Li, M., et al. (2025) · Advanced Science · doi:10.1002/advs.202509764 · Cited by 5
Nadkarni, R., Allphin, A. J., Clark, D. P., Qi, Y., Han, Z. Y., Ghaghada, K. B., Badea, A., & Badea, C. T. (2025) · PLoS ONE · doi:10.1371/journal.pone.0339293 · Cited by 2
“While APOE4 is strongly associated with increased risk for CVD, APOE2 is thought to confer cardio protection [4,5], though there are also potential vulnerabilities associated as well [6].”
Castellani, R. J., Bharadwaj, R. A., Fisher‐Hubbard, A., Deep‐Soboslay, A., Hyde, T. M., Kleinman, J. E., Hazrati, L., & Iverson, G. L. (2026) · Journal of Alzheimer s Disease · doi:10.1177/13872877251411332 · Cited by 2
“23,24 Genomic DNA was extracted from ∼ 30 mg of cerebellar or dorsolateral prefrontal cortical tissue using the phenol – chloroform method and quanti fi ed by Qubit.”
Drakopoulos, M., Lyons, C. E., Sikora, H., Abbott, S. M., Volpe, N. J., & Mirza, R. G. (2026) · Frontiers in Neurology · doi:10.3389/fneur.2026.1746695 · Cited by 2
Mutz, J., Gilchrist, L., Pain, O., Proitsi, P., & Lewis, C. M. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71280 · Cited by 3
How does type 2 diabetes modify the risk of Alzheimer's disease?
Sutherland, G. T., Chen, A., Nguyen‐Hao, H., Mundell, H. D., Aladyeva, E., Hofer, M. J., Harari, O., & Twigg, S. M. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71471 · Cited by 2
Marco, M. D., Wright, L., Valera‐Bermejo, J. M., & Ferguson, C. E. (2023) · Neuropsychologia · doi:10.1016/j.neuropsychologia.2023.108741 · Cited by 3
“Datasets with no APOE information and ε 2 carriers were discarded, as the ε 2 isoform is associated with neurovascular mechanisms different from those of the ε 4 allele (Lumsden et al., 2020).”
Kim, H., Tian, Y., Jung, S. M., Park, S., Rhee, H. Y., Ryu, C., & Jahng, G. (2024) · Brain and Behavior · doi:10.1002/brb3.3381 · Cited by 2
Is it time for a paradigm shift? Inclusion of APOE on genetic dyslipidemia panels
Ison, H. E., Mowaswes, M., Durst, R. Y., Leucker, T. M., Knowles, J. W., & Brown, E. E. (2024) · Journal of Genetic Counseling · doi:10.1002/jgc4.1889 · Cited by 2
“Studies have suggested that the Ɛ4 allele may contribute to increased LDL-C and CAD risk, with homozygosity of the allele having a stronger effect (Bennet et al., 2007; Khalil et al., 2021; Lumsden et al., 2020).”
Fagla, B. M., York, J. M., Christensen, A., Rosa, C. D., Balu, D., Pike, C. J., Tai, L. M., & Buhimschi, I. A. (2024) · Scientific Reports · doi:10.1038/s41598-024-66489-w · Cited by 2
The biphasic impact of apolipoprotein E ε4 allele on age-related hearing loss
Han, J. S., Yoo, S. G., Lee, S. J., Lee, H. J., Choi, I. Y., & Park, K. H. (2024) · Scientific Reports · doi:10.1038/s41598-024-71774-9 · Cited by 3
“Several studies have shown that innate immune biomarkers are reduced in ε4 carriers, implying that ε4 allele carriers may be more protected from inflammatory burden through lower innate immune sensing and faster clearance following the resolution of an acute inflammatory spike 29–32 .”
BackgroundLi, X.-L., Wang, Q., Jia, G.-D., Yin, H.-J., Wang, Y., Hu, C., Wang, X.-Q., & Yang, Y. (2022) · Age and Ageing · doi:10.1093/ageing/afac119 · Cited by 2
Pardo, R., Rafnsson, W., Steinhorn, G., Lavrov, D., Lumley, T., Probst, C. W., Ziediņš, I., & Wąsowski, A. (2023) · Lecture notes in computer science · doi:10.1007/978-3-031-25734-6_7 · Cited by 2
Isolation of recombinant apolipoprotein E4 N-terminal domain by foam fractionation
Lethcoe, K., Fox, C. A., Hafiane, A., Kiss, R. S., & Ryan, R. O. (2023) · Protein Expression and Purification · doi:10.1016/j.pep.2023.106319 · Cited by 2
Association between Polymorphism rs61876744 in PNPLA2 Gene and Keratoconus in a Saudi Cohort
Kondkar, A. A., Azad, T. A., Sultan, T., Khatlani, T., Alshehri, A., Lobo, G. P., Kalantan, H., Al‐Obeidan, S. A., & Al‐Muammar, A. (2023) · Genes · doi:10.3390/genes14122108 · Cited by 2
Characterization of APOE Christchurch carriers in 455,306 UK Biobank participantsPreprint
He, K., Khramtsova, E. A., Cabrera‐Socorro, A., Zhang, Y., Li, S., Sarver, B. A. J., Smets, B., Li, Q. S., Muynck, L. D., Parrado, A., et al. (2022) · medRxiv · doi:10.1101/2022.12.05.22283048 · Cited by 2
A microglia clonal inflammatory disorder in Alzheimer’s DiseasePreprint
Vicario, R., Fragkogianni, S., Weber, L., Lazarov, T., Hu, Y., Hayashi, S. Y., Craddock, B. P., Socci, N. D., Alberdi, A., Baako, A., et al. (2024) · eLife · doi:10.7554/elife.96519.2 · Cited by 2
APOE Genotype and Biological Age Impact Inter-Omic Associations Related to BioenergeticsPreprint
Ellis, D., Watanabe, K., Wilmanski, T. M., Lustgarten, M. S., Korat, A. V. A., Glusman, G., Hadlock, J., Fiehn, O., Paola Sebastiani, B., Price, N. D., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.10.17.618322 · Cited by 2
“For instance, E2 is linked to certain vascular and cervical disorders, while E4 offers some protection against diseases like type 2 diabetes (T2D) and obesity, 46 and these roles vary by sex and ancestry.”
Khani, M., Akçimen, F., Grant, S. M., Åkerman, S., Lee, P. S., Faghri, F., Leonard, H. L., Kim, J. J., Makarious, M. B., Koretsky, M. J., et al. (2024) · medRxiv · doi:10.1101/2024.11.03.24313587 · Cited by 2
APOE polymorphism is associated with changes in the kynurenine pathway
Farup, P. G., Rootwelt, H., & Hestad, K. (2023) · Genes · doi:10.3390/genes14101955 · Cited by 1
“Lumsden et al. have written a comprehensive overview [13].”
BackgroundResultInfluentialThe Genetics of Alcohol-Related Liver Disease
Innes, H. A., & Stickel, F. (2023) · Springer eBooks · doi:10.1007/978-3-031-32483-3_52 · Cited by 1
Maternal APOE ε2 as a possible risk factor for elevated prenatal Pb levels
Palir, N., Stajnko, A., Mazej, D., Štiglic, A. F., Rosolen, V., Mariuz, M., Ronfani, L., Tratnik, J. S., Runkel, A. A., Tursunova, V., et al. (2024) · Environmental Research · doi:10.1016/j.envres.2024.119583 · Cited by 1
Transcriptomic and Multi-Scale Network Analyses Reveal Key Drivers of Cardiovascular Disease
Tumenbayar, B., Pham, K., Biber, J. C., Drewes, R., & Bae, Y. (2024) · IEEE Transactions on Molecular Biological and Multi-Scale Communications · doi:10.1109/tmbmc.2024.3501576 · Cited by 1
“Interestingly, we also observed significant upregulation of several well-characterized genes known to be central to human cardiovascular pathophysiology: APOE (Apolipoprotein E), TGFB1 (Transforming Growth Factor Beta 1), and TGFBR1 (Transforming Growth Factor Beta Receptor 1) [63], [64].”
Lee, S., Kelly, R. S., Chen, Y., Waqas, M., Mendez, K. M., Hecker, J., Hahn, G., Lutz, S. M., Celedon, J. C., Clish, C. B., et al. (2025) · Metabolomics · doi:10.1007/s11306-025-02256-w · Cited by 1
“…risk factor for late-onset AD and related lipid-metabolism disorders (Huebbe & Rim-bach, 2017 ; Karjalainen et al., 2019a ; Koopal et al., 2016 ; Lumsden et al., 2020 ; Takeuchi et al., 2012 ), our data sug - gest that rs7412/ε2 may exert notable lipid-lowering effects on SMs and…”
InfluentialWang, J., Li, X., Lu, L., Chen, J., Yang, Y., & Jin, G. (2025) · Frontiers in Neurology · doi:10.3389/fneur.2025.1498613 · Cited by 1
Pediatric Hypertriglyceridemia: Lipoprotein Metabolism, Etiology, and Management
Moriyama, H., & Ham, J. N. (2025) · Current Pediatrics Reports · doi:10.1007/s40124-025-00349-7 · Cited by 2
“Xanthomata of the palmar creases, while not common, are considered pathognomonic of FDB. APOE genotype also influences dementia risk, as the ε4/ε4 state is associated with a markedly elevated risk of Alzheimers disease [23].”
Ekenze, O. S., Pinheiro, A., Beiser, A., Lioutas, V., Aparicio, H. J., Benjamin, E. J., Vasan, R. S., DeCarli, C. S., Seshadri, S. S., Demissie, S., et al. (2025) · Brain Sciences · doi:10.3390/brainsci15080813 · Cited by 2
Metadata
- Authors
- Lumsden, A. L., Mulugeta, A., Zhou, A., & Hyppönen, E.
- Affiliations
- University of South Australia (AU)
- Corresponding author
- Hyppönen, Elina
- Venue
- eBioMedicine
- Publisher
- Elsevier BV
- Published
- 2020-09
- Volume
- 59
- Pages
- 102954
- ISSN
- 2352-3964 (ISSN-L)
- PMC
- PMC7452404
- OpenAlex
- W3069395596
- Cited by
- 317
- References
- 31
- Citations by year
- 2026: 54 · 2025: 72 · 2024: 82 · 2023: 59 · 2022: 33 · 2021: 17
- FWCI
- 3.88
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- EBioMedicine (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- UniSA Research Outputs Repository (University of South Australia) (submittedVersion, other-oa)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion, cc-by-nc-nd)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- UK Biobank (GNT1123603)
- National Health and Medical Research Council (GNT1157281)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- apolipoprotein E, APOE genotype, APOE ε4, APOE ε2, Alzheimer's disease, hypercholesterolemia, ischemic heart disease, phenome-wide association study, disease risk, obesity, type 2 diabetes, peripheral vascular disease, thromboembolism, arterial aneurysm, peptic ulcer, hallux valgus, cardiovascular disease, genetic risk factors
- MeSH terms
- Adult, Aged, Alleles, Apolipoproteins E, Female, Genotype, United Kingdom, Humans, Male, Middle Aged, Phenotype, Population Surveillance, Registries, Risk Factors, Case-Control Studies, Biological Specimen Banks, Risk Assessment, Genetic Predisposition to Disease, Genetic Association Studies
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