{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T11:36:07Z","timestamp":1771846567228,"version":"3.50.1"},"reference-count":53,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T00:00:00Z","timestamp":1648166400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The present study evaluated the risk effect of 12 Single Nucleotide Polymorphisms in the SORL1 gene in the Mexican population using Late-Onset Alzheimer\u2019s Disease (LOAD) and control subjects. Considering APOE as the strongest genetic risk factor for LOAD, we conducted interaction analyses between single nucleotide polymorphisms (SNPs) and the APOE genotype. Methods: Patients were interviewed during their scheduled visits at neurologic and geriatric clinics from different institutions. The LOAD diagnosis included neurological, geriatric, and psychiatric examinations, as well as the medical history and neuroimaging. Polymorphisms in SORL1 were genotyped by real-time PCR in 156 subjects with LOAD and 221 controls. APOE genotype was determined in each study subject. Allelic, genotypic, and haplotypic frequencies were analyzed; an ancestry analysis was also performed. Results: The A\/A genotype in rs1784933 might be associated with an increased LOAD risk. Two blocks with high degree linkage disequilibrium (LD) were identified. The first block composed by the genetic variants rs668387, rs689021 and rs641120 showed a positive interaction (mainly the rs689021) with rs1784933 polymorphism. Moreover, we found a significant association between the APOE \u03b54 allele carriers and the variant rs2070045 located in the second LD block. Conclusion: The rs1784933 polymorphism is associated with LOAD in Mexican patients. In addition, the presence of APOE \u03b54 allele and SORL1 variants could represent a genetic interaction effect that favors LOAD risk in the Mexican population. SNPs have been proposed as genetic markers associated with the development of LOAD that can support the clinical diagnosis. Future molecular studies could help understand sporadic Alzheimer\u2019s Disease (AD) among the Mexican population, where currently there is a sub-estimate number in terms of disease frequency and incidence.<\/jats:p>","DOI":"10.3390\/genes13040587","type":"journal-article","created":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T15:31:21Z","timestamp":1648222281000},"page":"587","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["SORL1 Polymorphisms in Mexican Patients with Alzheimer\u2019s Disease"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5156-6969","authenticated-orcid":false,"given":"Danira","family":"Toral-Rios","sequence":"first","affiliation":[{"name":"Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Ruiz-S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Laboratorio de Neurotoxicolog\u00eda, Instituto Nacional de Neurolog\u00eda y Neurocirug\u00eda, Manuel Velasco Su\u00e1rez, Ciudad de M\u00e9xico 14269, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7840-983X","authenticated-orcid":false,"given":"Nancy Lucero Mart\u00ednez","family":"Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n Epidemiol\u00f3gica en Endocrinolog\u00eda y Nutrici\u00f3n, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Ciudad de M\u00e9xico 06720, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marlene","family":"Maury-Rosillo","sequence":"additional","affiliation":[{"name":"Departamento de la Subdirecci\u00f3n de Prevenci\u00f3n y Protecci\u00f3n a la Salud, Direcci\u00f3n Normativa de Salud, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE), Ciudad de M\u00e9xico 14070, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0564-5882","authenticated-orcid":false,"given":"\u00d3scar","family":"Rosas-Carrasco","sequence":"additional","affiliation":[{"name":"Departamento de Salud, Universidad Iberoamericana, Ciudad de M\u00e9xico 01219, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Becerril-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Campus-Vienna-BioCenter 1, 1030 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Mena-Barranco","sequence":"additional","affiliation":[{"name":"Hospital General ISSSTE, La Paz 23090, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Carvajal-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Centro Geri\u00e1trico SINANK\u2019AY, Jurica, Santiago de Quer\u00e9taro 76100, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Silva-Adaya","sequence":"additional","affiliation":[{"name":"Laboratorio Experimental de Enfermedades Neurodegenerativas, Instituto Nacional de Neurolog\u00eda y Neurocirug\u00eda, Ciudad de M\u00e9xico 14269, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yair","family":"Delgado-Namorado","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, National Reference Center \u201cMexico\u2019s Valley\u201d, Salud Digna, Los Reyes, Tlal nepantla de Baz, Estado de Mexico 54075, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0861-6152","authenticated-orcid":false,"given":"Gerardo","family":"Ramos-Palacios","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montr\u00e9al, QC H3A 2B4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"S\u00e1nchez-Torres","sequence":"additional","affiliation":[{"name":"Departamento de Biomedicina Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de M\u00e9xico 07360, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8282-7543","authenticated-orcid":false,"given":"Victoria","family":"Campos-Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Laboratorio Experimental de Enfermedades Neurodegenerativas, Instituto Nacional de Neurolog\u00eda y Neurocirug\u00eda, Ciudad de M\u00e9xico 14269, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"13461","DOI":"10.1073\/pnas.0503689102","article-title":"Neuronal sorting protein-related receptor sorLA\/LR11 regulates processing of the amyloid precursor protein","volume":"102","author":"Andersen","year":"2005","journal-title":"Proc. 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