{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:51:11Z","timestamp":1760241071927,"version":"build-2065373602"},"reference-count":76,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2019,11,25]],"date-time":"2019-11-25T00:00:00Z","timestamp":1574640000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Key Research and Development Program of Jiangsu province","award":["BE2016002-3"],"award-info":[{"award-number":["BE2016002-3"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81830053"],"award-info":[{"award-number":["81830053"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The pathological features of Alzheimer\u2019s Disease (AD) first appear in the medial temporal lobe and then in other brain structures with the development of the disease. In this work, we investigated the association between genetic loci and subcortical structure volumes of AD on 393 samples in the Alzheimer\u2019s Disease Neuroimaging Initiative (ADNI) cohort. Brain subcortical structures were clustered into modules using Pearson\u2019s correlation coefficient of volumes across all samples. Module volumes were used as quantitative traits to identify not only the main effect loci but also the interactive effect loci for each module. Thirty-five subcortical structures were clustered into five modules, each corresponding to a particular brain structure\/area, including the limbic system (module I), the corpus callosum (module II), thalamus\u2013cerebellum\u2013brainstem\u2013pallidum (module III), the basal ganglia neostriatum (module IV), and the ventricular system (module V). Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment results indicate that the gene annotations of the five modules were distinct, with few overlaps between different modules. We identified several main effect loci and interactive effect loci for each module. All these loci are related to the function of module structures and basic biological processes such as material transport and signal transduction.<\/jats:p>","DOI":"10.3390\/ijms20235912","type":"journal-article","created":{"date-parts":[[2019,11,25]],"date-time":"2019-11-25T05:52:58Z","timestamp":1574661178000},"page":"5912","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Quantitative Trait Module-Based Genetic Analysis of Alzheimer\u2019s Disease"],"prefix":"10.3390","volume":"20","author":[{"given":"Shaoxun","family":"Yuan","sequence":"first","affiliation":[{"name":"State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haitao","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianming","family":"Xie","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1048-7775","authenticated-orcid":false,"given":"Xiao","family":"Sun","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2019,11,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s13273-018-0015-3","article-title":"Clinical genetic strategies for early onset neurodegenerative diseases","volume":"14","author":"Bagyinszky","year":"2018","journal-title":"Mol. 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