{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:34:59Z","timestamp":1760060099280,"version":"build-2065373602"},"reference-count":56,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ELPEN Pharmaceutical Co. Inc.","award":["33\/22-10-20","726\/20-11-20","ELKE NKUA #19635"],"award-info":[{"award-number":["33\/22-10-20","726\/20-11-20","ELKE NKUA #19635"]}]},{"name":"NUTRICIA","award":["33\/22-10-20","726\/20-11-20","ELKE NKUA #19635"],"award-info":[{"award-number":["33\/22-10-20","726\/20-11-20","ELKE NKUA #19635"]}]},{"name":"Roche Diagnostics","award":["33\/22-10-20","726\/20-11-20","ELKE NKUA #19635"],"award-info":[{"award-number":["33\/22-10-20","726\/20-11-20","ELKE NKUA #19635"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Alzheimer\u2019s disease (AD) is the most common cause of cognitive decline. Among the various susceptibility genes, the gene of apolipoprotein E (APOE) is probably the most important. It may be present in three allelic forms, termed \u03b52, \u03b53 and \u03b54, and the most common genotype is the \u03b53\/\u03b53. Recently, it has been observed that subjects with the \u03b54\/\u03b54 genotype may show near-full penetrance of AD biology (pathology and biomarkers), leading to the suggestion that \u03b54 homozygosity may represent a distinct genetic type of AD. The aim of the present study was to investigate the role of \u03b54 homozygosity or heterozygosity in the presence or absence of the AD biomarker profile in patients with cognitive disorders in the Greek population. A total of 274 patients were included in the study. They underwent APOE genotyping and cerebrospinal fluid (CSF) biomarker profiling. The presence of \u03b54 was associated with a lower age of symptom onset and decreased amyloid biomarkers (irrespective to AD or non-AD profiles), and predicted the presence of an AD profile by a positive predictive value approaching 100%. In conclusion, the \u03b54 allele has a significant effect on the risk and clinical parameters of cognitive impairment and AD in the Greek population, while the \u03b54\/\u03b54 genotype may be highly indicative of the (co)existence of AD in cognitively impaired patients.<\/jats:p>","DOI":"10.3390\/ijms26157410","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T15:56:16Z","timestamp":1754409376000},"page":"7410","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["APOE Genotyping in Cognitive Disorders: Preliminary Observations from the Greek Population"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2823-2825","authenticated-orcid":false,"given":"Athanasia","family":"Athanasaki","sequence":"first","affiliation":[{"name":"2nd Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, \u201cAttikon\u201d General University Hospital, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7582-7059","authenticated-orcid":false,"given":"Ioanna","family":"Tsantzali","sequence":"additional","affiliation":[{"name":"2nd Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, \u201cAttikon\u201d General University Hospital, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5876-2599","authenticated-orcid":false,"given":"Christos","family":"Kroupis","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, School of Medicine, National and Kapodistrian University of Athens, \u201cAttikon\u201d General University Hospital, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7229-2610","authenticated-orcid":false,"given":"Aikaterini","family":"Theodorou","sequence":"additional","affiliation":[{"name":"2nd Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, \u201cAttikon\u201d General University Hospital, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9691-9465","authenticated-orcid":false,"given":"Fotini","family":"Boufidou","sequence":"additional","affiliation":[{"name":"1st Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, Neurochemistry and Biological Markers Unit, \u201cEginition\u201d Hospital, 11528 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7432-5009","authenticated-orcid":false,"given":"Vasilios C.","family":"Constantinides","sequence":"additional","affiliation":[{"name":"1st Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, Neurochemistry and Biological Markers Unit, \u201cEginition\u201d Hospital, 11528 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John S.","family":"Tzartos","sequence":"additional","affiliation":[{"name":"2nd Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, \u201cAttikon\u201d General University Hospital, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Socrates J.","family":"Tzartos","sequence":"additional","affiliation":[{"name":"Tzartos Neuro Diagnostics, 11523 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0050-284X","authenticated-orcid":false,"given":"Georgios","family":"Velonakis","sequence":"additional","affiliation":[{"name":"2nd Department of Radiology, National and Kapodistrian University of Athens, Research Unit of Radiology, \u201cAttikon\u201d General University Hospital, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Zompola","sequence":"additional","affiliation":[{"name":"2nd Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, \u201cAttikon\u201d General University Hospital, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amalia","family":"Michalopoulou","sequence":"additional","affiliation":[{"name":"2nd Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, \u201cAttikon\u201d General University Hospital, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panagiotis G.","family":"Paraskevas","sequence":"additional","affiliation":[{"name":"2nd Department of Neurology, School of Medicine, 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