{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T19:17:43Z","timestamp":1769282263277,"version":"3.49.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2021,11,3]],"date-time":"2021-11-03T00:00:00Z","timestamp":1635897600000},"content-version":"vor","delay-in-days":306,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"name":"a grant for Research on Dementia from the Japanese Ministry of Health, Labour, and Welfare"},{"name":"Research Funding for Longevity Sciences from the National Center for Geriatrics and Gerontology","award":["21-22"],"award-info":[{"award-number":["21-22"]}]},{"name":"Research Funding for Longevity Sciences from the National Center for Geriatrics and Gerontology","award":["21-24"],"award-info":[{"award-number":["21-24"]}]},{"name":"Research Funding for Longevity Sciences from the National Center for Geriatrics and Gerontology","award":["29-45"],"award-info":[{"award-number":["29-45"]}]},{"DOI":"10.13039\/100015120","name":"Daiko Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015120","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["Development of Diagnostic Technology for Detection"],"award-info":[{"award-number":["Development of Diagnostic Technology for Detection"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["Program for an Integrated Database of Clinical and"],"award-info":[{"award-number":["Program for an Integrated Database of Clinical and"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Japan Foundation for Aging and Health"},{"name":"JSPS KAKENHI Kiban B","award":["21H02470"],"award-info":[{"award-number":["21H02470"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>MicroRNAs (miRNAs) are small non-coding RNAs shown to regulate gene expression by binding to complementary transcripts. Genetic variants, including single-nucleotide polymorphisms and short insertions\/deletions, contribute to traits and diseases by influencing miRNA expression. However, the association between genetic variation and miRNA expression remains to be elucidated. Here, by using genotype data and miRNA expression data from 3448 Japanese serum samples, we developed a computational pipeline to systematically identify genome-wide miRNA expression quantitative trait loci (miR-eQTLs). Not only did we identify a total of 2487 cis-miR-eQTLs and 3\u2009155\u2009773 trans-miR-eQTLs at a false discovery rate of\u2009&amp;lt;0.05 in six dementia types (Alzheimer\u2019s disease, dementia with Lewy bodies, vascular dementia, frontotemporal lobar degeneration, normal-pressure hydrocephalus and mild cognitive impairment) and all samples, including those from patients with other types of dementia, but also we examined the commonality and specificity of miR-eQTLs among dementia types. To enable data searching and downloading of these cis- and trans-eQTLs, we developed a user-friendly database named JAMIR-eQTL, publicly available at https:\/\/www.jamir-eqtl.org\/. This is the first miR-eQTL database designed for dementia types. Our integrative and comprehensive resource will contribute to understanding the genetic basis of miRNA expression as well as to the discovery of deleterious mutations, particularly in dementia studies.<\/jats:p>\n               <jats:p>Database URL: https:\/\/www.jamir-eqtl.org\/<\/jats:p>","DOI":"10.1093\/database\/baab072","type":"journal-article","created":{"date-parts":[[2021,10,24]],"date-time":"2021-10-24T03:05:43Z","timestamp":1635044743000},"source":"Crossref","is-referenced-by-count":9,"title":["JAMIR-eQTL: Japanese genome-wide identification of microRNA expression quantitative trait loci across dementia types"],"prefix":"10.1093","volume":"2021","author":[{"given":"Shintaro","family":"Akiyama","sequence":"first","affiliation":[{"name":"Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Aichi 474-8511, Japan"}]},{"given":"Sayuri","family":"Higaki","sequence":"additional","affiliation":[{"name":"Clinical Research Center, National Hospital Organization Nagoya Medical Center, Aichi 460-0001, Japan"}]},{"given":"Takahiro","family":"Ochiya","sequence":"additional","affiliation":[{"name":"Institute of Medical Science, Tokyo Medical University, Tokyo 160-8402, Japan"}]},{"given":"Kouichi","family":"Ozaki","sequence":"additional","affiliation":[{"name":"Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Aichi 474-8511, Japan"},{"name":"Center for Integrative Medical Sciences, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan"}]},{"given":"Shumpei","family":"Niida","sequence":"additional","affiliation":[{"name":"Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Aichi 474-8511, Japan"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4412-0552","authenticated-orcid":false,"given":"Daichi","family":"Shigemizu","sequence":"additional","affiliation":[{"name":"Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Aichi 474-8511, Japan"},{"name":"Center for Integrative Medical Sciences, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan"},{"name":"Medical Research Institute, Tokyo Medical and Dental University (TMDU), Tokyo 113-8510, Japan"}]}],"member":"286","published-online":{"date-parts":[[2021,11,3]]},"reference":[{"key":"2022021504133785900_R1","doi-asserted-by":"crossref","first-page":"12007","DOI":"10.3748\/wjg.v20.i34.12007","article-title":"MicroRNAs as potential biomarkers for gastric cancer","volume":"20","author":"Liu","year":"2014","journal-title":"World J. Gastroenterol."},{"key":"2022021504133785900_R2","doi-asserted-by":"crossref","first-page":"135","DOI":"10.4149\/neo_2013_018","article-title":"Circulating microRNAs (cmiRNAs) as novel potential biomarkers for hepatocellular carcinoma","volume":"60","author":"Qi","year":"2013","journal-title":"Neoplasma"},{"key":"2022021504133785900_R3","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0080738","article-title":"Signature of circulating microRNAs as potential biomarkers in vulnerable coronary artery disease","volume":"8","author":"Ren","year":"2013","journal-title":"PLoS One"},{"key":"2022021504133785900_R4","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0126423","article-title":"MicroRNA profiling of CSF reveals potential biomarkers to detect Alzheimer\u2019s disease","volume":"10","author":"Denk","year":"2015","journal-title":"PLoS One"},{"key":"2022021504133785900_R5","doi-asserted-by":"crossref","DOI":"10.1186\/s13195-020-00716-0","article-title":"Prognosis prediction model for conversion from mild cognitive impairment to Alzheimer\u2019s disease created by integrative analysis of multi-omics data","volume":"12","author":"Shigemizu","year":"2020","journal-title":"Alzheimers Res. Ther."},{"key":"2022021504133785900_R6","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1038\/ng1794","article-title":"Approaches to microRNA discovery","volume":"38","author":"Berezikov","year":"2006","journal-title":"Nat. Genet."},{"key":"2022021504133785900_R7","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1016\/j.cell.2007.04.040","article-title":"A mammalian microRNA expression atlas based on small RNA library sequencing","volume":"129","author":"Landgraf","year":"2007","journal-title":"Cell"},{"key":"2022021504133785900_R8","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/978-1-4939-3136-1_8","article-title":"Microarray technology and its applications for detecting plasma microRNA biomarkers in digestive tract cancers","volume":"1368","author":"Konishi","year":"2016","journal-title":"Methods Mol. Biol."},{"key":"2022021504133785900_R9","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.1038\/ng1799","article-title":"Strategies to determine the biological function of microRNAs","volume":"38","author":"Krutzfeldt","year":"2006","journal-title":"Nat. Genet."},{"key":"2022021504133785900_R10","doi-asserted-by":"crossref","first-page":"3641","DOI":"10.1093\/hmg\/ddy271","article-title":"Meta-analysis of genome-wide association studies for height and body mass index in approximately 700000 individuals of European ancestry","volume":"27","author":"Yengo","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"2022021504133785900_R11","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1038\/ng.3951","article-title":"Genome-wide association study identifies 112 new loci for body mass index in the Japanese population","volume":"49","author":"Akiyama","year":"2017","journal-title":"Nat. Genet."},{"key":"2022021504133785900_R12","doi-asserted-by":"crossref","DOI":"10.1038\/s41398-021-01272-3","article-title":"Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer\u2019s disease risk","volume":"11","author":"Shigemizu","year":"2021","journal-title":"Transl. Psychiatry"},{"key":"2022021504133785900_R13","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1038\/s41588-020-00748-0","article-title":"Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction","volume":"53","author":"Conti","year":"2021","journal-title":"Nat. Genet."},{"key":"2022021504133785900_R14","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2020.00424","article-title":"From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases","volume":"11","author":"Cano-Gamez","year":"2020","journal-title":"Front Genet."},{"key":"2022021504133785900_R15","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/nature09266","article-title":"From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus","volume":"466","author":"Musunuru","year":"2010","journal-title":"Nature"},{"key":"2022021504133785900_R16","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1056\/NEJMoa1502214","article-title":"FTO obesity variant circuitry and adipocyte browning in humans","volume":"373","author":"Claussnitzer","year":"2015","journal-title":"N. Engl. J. 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The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans","volume":"348","author":"Consortium","year":"2015","journal-title":"Science"},{"key":"2022021504133785900_R19","doi-asserted-by":"crossref","first-page":"D956","DOI":"10.1093\/nar\/gkz711","article-title":"ncRNA-eQTL: a database to systematically evaluate the effects of SNPs on non-coding RNA expression across cancer types","volume":"48","author":"Li","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"2022021504133785900_R20","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms7601","article-title":"Genome-wide identification of microRNA expression quantitative trait loci","volume":"6","author":"Huan","year":"2015","journal-title":"Nat. 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