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It is classified as familial and sporadic. The dominant familial or autosomal presentation represents 1\u20135% of the total number of cases. It is categorized as early onset (EOAD; &lt;65 years of age) and presents genetic mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), or the Amyloid precursor protein (APP). Sporadic AD represents 95% of the cases and is categorized as late-onset (LOAD), occurring in patients older than 65 years of age. Several risk factors have been identified in sporadic AD; aging is the main one. Nonetheless, multiple genes have been associated with the different neuropathological events involved in LOAD, such as the pathological processing of Amyloid beta (A\u03b2) peptide and Tau protein, as well as synaptic and mitochondrial dysfunctions, neurovascular alterations, oxidative stress, and neuroinflammation, among others. Interestingly, using genome-wide association study (GWAS) technology, many polymorphisms associated with LOAD have been identified. This review aims to analyze the new genetic findings that are closely related to the pathophysiology of AD. Likewise, it analyzes the multiple mutations identified to date through GWAS that are associated with a high or low risk of developing this neurodegeneration. Understanding genetic variability will allow for the identification of early biomarkers and opportune therapeutic targets for AD.<\/jats:p>","DOI":"10.3390\/ijms24043754","type":"journal-article","created":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T02:16:01Z","timestamp":1676340961000},"page":"3754","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":336,"title":["Alzheimer\u2019s Disease: An Updated Overview of Its Genetics"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0574-8814","authenticated-orcid":false,"given":"Jes\u00fas","family":"Andrade-Guerrero","sequence":"first","affiliation":[{"name":"Laboratorio de Patog\u00e9nesis Molecular, Laboratorio 4, Edificio A4, Carrera M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Edomex, Mexico"},{"name":"Departamento de Neurobiolog\u00eda del Desarrollo y Neurofisiolog\u00eda, Instituto de Neurobiolog\u00eda, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Juriquilla 76230, Quer\u00e9taro, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2894-7477","authenticated-orcid":false,"given":"Alberto","family":"Santiago-Balmaseda","sequence":"additional","affiliation":[{"name":"Laboratorio de Patog\u00e9nesis Molecular, Laboratorio 4, Edificio A4, Carrera M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Edomex, Mexico"},{"name":"Red MEDICI, Carrera M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Edomex, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6861-950X","authenticated-orcid":false,"given":"Paola","family":"Jeronimo-Aguilar","sequence":"additional","affiliation":[{"name":"Laboratorio de Patog\u00e9nesis Molecular, Laboratorio 4, Edificio A4, Carrera M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Edomex, Mexico"},{"name":"Red MEDICI, Carrera M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Edomex, Mexico"},{"name":"Secci\u00f3n de Estudios de Posgrado e Investigaci\u00f3n, Escuela Superior de Medicina, Instituto Polit\u00e9cnico Nacional, CDMX 11340, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaac","family":"Vargas-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Departamento de Neurobiolog\u00eda del Desarrollo y Neurofisiolog\u00eda, Instituto de Neurobiolog\u00eda, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Juriquilla 76230, Quer\u00e9taro, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Ruth","family":"Cadena-Su\u00e1rez","sequence":"additional","affiliation":[{"name":"National Dementia BioBank, Ciencias Biol\u00f3gicas, Facultad de Estudios Superiores Cuautitl\u00e1n, Universidad-Nacional Aut\u00f3noma de M\u00e9xico, Cuatitlan 53150, Edomex, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0637-5239","authenticated-orcid":false,"given":"Carlos","family":"S\u00e1nchez-Garibay","sequence":"additional","affiliation":[{"name":"Departamento de Neuropatolog\u00eda, Instituto Nacional de Neurolog\u00eda y Neurocirug\u00eda Manuel Velasco Su\u00e1rez, CDMX 14269, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4675-4081","authenticated-orcid":false,"given":"Glustein","family":"Pozo-Molina","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Oncolog\u00eda Molecular, Laboratorio 5, Edificio A4, Carrera M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Edomex, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3444-1085","authenticated-orcid":false,"given":"Claudia Fabiola","family":"M\u00e9ndez-Catal\u00e1","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Oncolog\u00eda Molecular, Laboratorio 5, Edificio A4, Carrera M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Edomex, Mexico"},{"name":"Divisi\u00f3n de Investigaci\u00f3n y Posgrado, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de Mexico, Tlalnepantla 54090, Edomex, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9156-2161","authenticated-orcid":false,"given":"Maria-del-Carmen","family":"Cardenas-Aguayo","sequence":"additional","affiliation":[{"name":"Laboratory of Cellular Reprogramming, Departamento de Fisiolog\u00eda, Facultad de Medicina, Universidad Nacional Aut\u00f3noma de M\u00e9xico, CDMX 04510, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sof\u00eda","family":"Diaz-Cintra","sequence":"additional","affiliation":[{"name":"Departamento de Neurobiolog\u00eda del Desarrollo y Neurofisiolog\u00eda, Instituto de Neurobiolog\u00eda, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Juriquilla 76230, Quer\u00e9taro, 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