{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T05:55:45Z","timestamp":1768542945312,"version":"3.49.0"},"reference-count":127,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T00:00:00Z","timestamp":1615248000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2021,3,9]]},"abstract":"<jats:p>Background: Dementia due to Alzheimer\u2019s disease (AD) is a complex neurodegenerative disorder, which much of heritability remains unexplained. At the clinical level, one of the most common physiological alterations is the slowing of oscillatory brain activity, measurable by electroencephalography (EEG). Relative power (RP) at the conventional frequency bands (i.e., delta, theta, alpha, beta-1, and beta-2) can be considered as AD endophenotypes. Objective: The aim of this work is to analyze the association between sixteen genes previously related with AD: APOE, PICALM, CLU, BCHE, CETP, CR1, SLC6A3, GRIN2 \u03b2, SORL1, TOMM40, GSK3 \u03b2, UNC5C, OPRD1, NAV2, HOMER2, and IL1RAP, and the slowing of the brain activity, assessed by means of RP at the aforementioned frequency bands. Methods: An Iberian cohort of 45 elderly controls, 45 individuals with mild cognitive impairment, and 109 AD patients in the three stages of the disease was considered. Genomic information and brain activity of each subject were analyzed. Results: The slowing of brain activity was observed in carriers of risk alleles in IL1RAP (rs10212109, rs9823517, rs4687150), UNC5C (rs17024131), and NAV2 (rs1425227, rs862785) genes, regardless of the disease status and situation towards the strongest risk factors: age, sex, and APOE \u025b4 presence. Conclusion: Endophenotypes reduce the complexity of the general phenotype and genetic variants with a major effect on those specific traits may be then identified. The found associations in this work are novel and may contribute to the comprehension of AD pathogenesis, each with a different biological role, and influencing multiple factors involved in brain physiology.<\/jats:p>","DOI":"10.3233\/jad-200963","type":"journal-article","created":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T17:20:31Z","timestamp":1611940831000},"page":"209-223","source":"Crossref","is-referenced-by-count":10,"title":["Risk Variants in Three Alzheimer\u2019s Disease Genes Show Association with EEG Endophenotypes"],"prefix":"10.1177","volume":"80","author":[{"given":"Ana","family":"Macedo","sequence":"first","affiliation":[{"name":"IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal"},{"name":"i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Porto, Portugal"},{"name":"JTA: The Data Scientists, Porto, Portugal"}]},{"given":"Carlos","family":"G\u00f3mez","sequence":"additional","affiliation":[{"name":"Grupo de Ingenier\u00eda Biom\u00e9dica, Universidad de Valladolid, Valladolid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Bioingenier\u00eda, Biomateriales y Nanomedicina (CIBER-BBN), Spain"}]},{"given":"Miguel \u00c2ngelo","family":"Rebelo","sequence":"additional","affiliation":[{"name":"IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal"},{"name":"i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Porto, Portugal"}]},{"given":"Jes\u00fas","family":"Poza","sequence":"additional","affiliation":[{"name":"Grupo de Ingenier\u00eda Biom\u00e9dica, Universidad de Valladolid, Valladolid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Bioingenier\u00eda, Biomateriales y Nanomedicina (CIBER-BBN), Spain"},{"name":"Instituto de Investigaci\u00f3n en Matem\u00e1ticas (IMUVA), Universidad de Valladolid, Valladolid, Spain"}]},{"given":"Iva","family":"Gomes","sequence":"additional","affiliation":[{"name":"IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal"},{"name":"i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Porto, Portugal"}]},{"given":"Sandra","family":"Martins","sequence":"additional","affiliation":[{"name":"IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal"},{"name":"i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Porto, Portugal"}]},{"given":"Aar\u00f3n","family":"Maturana-Candelas","sequence":"additional","affiliation":[{"name":"Grupo de Ingenier\u00eda Biom\u00e9dica, Universidad de Valladolid, Valladolid, Spain"}]},{"given":"V\u00edctor Guti\u00e9rrez-de","family":"Pablo","sequence":"additional","affiliation":[{"name":"Grupo de Ingenier\u00eda Biom\u00e9dica, Universidad de Valladolid, Valladolid, Spain"}]},{"given":"Luis","family":"Dur\u00e3es","sequence":"additional","affiliation":[{"name":"Associa\u00e7\u00e3o Portuguesa de Familiares e Amigos de Doentes de Alzheimer, Lavra, Portugal"}]},{"given":"Patr\u00edcia","family":"Sousa","sequence":"additional","affiliation":[{"name":"Associa\u00e7\u00e3o Portuguesa de Familiares e Amigos de Doentes de Alzheimer, Lavra, Portugal"}]},{"given":"Manuel","family":"Figueruelo","sequence":"additional","affiliation":[{"name":"Asociaci\u00f3n de Familiares y Amigos de Enfermos de Alzheimer y otras demencias de Zamora, Zamora, Spain"}]},{"given":"Mar\u00eda","family":"Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Asociaci\u00f3n de Familiares y Amigos de Enfermos de Alzheimer y otras demencias de Zamora, Zamora, Spain"}]},{"given":"Carmen","family":"Pita","sequence":"additional","affiliation":[{"name":"Asociaci\u00f3n de Familiares y Amigos de Enfermos de Alzheimer y otras demencias de Zamora, Zamora, Spain"}]},{"given":"Miguel","family":"Arenas","sequence":"additional","affiliation":[{"name":"IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal"},{"name":"i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Porto, Portugal"},{"name":"CINBIO (Biomedical Research Center), University of Vigo, Vigo, Spain"},{"name":"Department of Biochemistry, Genetics and Immunology, University of Vigo, Vigo, Spain"}]},{"given":"Luis","family":"\u00c1lvarez","sequence":"additional","affiliation":[{"name":"IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal"},{"name":"i3S - Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Porto, 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