{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T01:31:06Z","timestamp":1773019866565,"version":"3.50.1"},"reference-count":45,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2021,10,19]],"date-time":"2021-10-19T00:00:00Z","timestamp":1634601600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["16-14-00020"],"award-info":[{"award-number":["16-14-00020"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Alzheimer\u2019s disease (AD) is a neurodegenerative disorder, and represents the most common cause of dementia. In this study, we performed several different analyses to detect loci involved in development of the late onset AD in the Russian population. DNA samples from 472 unrelated subjects were genotyped for 63 SNPs using iPLEX Assay and real-time PCR. We identified five genetic loci that were significantly associated with LOAD risk for the Russian population (TOMM40 rs2075650, APOE rs429358 and rs769449, NECTIN rs6857, APOE \u03b54). The results of the analysis based on comparison of the haplotype frequencies showed two risk haplotypes and one protective haplotype. The GMDR analysis demonstrated three significant models as a result: a one-factor, a two-factor and a three-factor model. A protein\u2013protein interaction network with three subnetworks was formed for the 24 proteins. Eight proteins with a large number of interactions are identified: APOE, SORL1, APOC1, CD33, CLU, TOMM40, CNTNAP2 and CACNA1C. The present study confirms the importance of the APOE-TOMM40 locus as the main risk locus of development and progress of LOAD in the Russian population. Association analysis and bioinformatics approaches detected interactions both at the association level of single SNPs and at the level of genes and proteins.<\/jats:p>","DOI":"10.3390\/genes12101647","type":"journal-article","created":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T03:01:13Z","timestamp":1634698873000},"page":"1647","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Association and Gene\u2013Gene Interactions Study of Late-Onset Alzheimer\u2019s Disease in the Russian Population"],"prefix":"10.3390","volume":"12","author":[{"given":"Anna","family":"Bocharova","sequence":"first","affiliation":[{"name":"Tomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kseniya","family":"Vagaitseva","sequence":"additional","affiliation":[{"name":"Tomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4642-7515","authenticated-orcid":false,"given":"Andrey","family":"Marusin","sequence":"additional","affiliation":[{"name":"Tomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Zhukova","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Faculty of General Medicine, Siberian State Medical University, 634050 Tomsk, Russia"},{"name":"Nebbiolo Center for Clinical Trials, 634009 Tomsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Zhukova","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Faculty of General Medicine, Siberian State Medical University, 634050 Tomsk, Russia"},{"name":"Nebbiolo Center for Clinical Trials, 634009 Tomsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larisa","family":"Minaycheva","sequence":"additional","affiliation":[{"name":"Tomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oksana","family":"Makeeva","sequence":"additional","affiliation":[{"name":"Nebbiolo Center for Clinical Trials, 634009 Tomsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vadim","family":"Stepanov","sequence":"additional","affiliation":[{"name":"Tomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Alzheimer\u2019s Association Report (2019). 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