{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T09:15:33Z","timestamp":1762074933453,"version":"build-2065373602"},"reference-count":52,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T00:00:00Z","timestamp":1667520000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81872712","82173624","ZR2019ZD02"],"award-info":[{"award-number":["81872712","82173624","ZR2019ZD02"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Natural Science Foundation of Shandong Province","award":["81872712","82173624","ZR2019ZD02"],"award-info":[{"award-number":["81872712","82173624","ZR2019ZD02"]}]},{"name":"Cheeloo Young Talent Program of Shandong University","award":["81872712","82173624","ZR2019ZD02"],"award-info":[{"award-number":["81872712","82173624","ZR2019ZD02"]}]},{"name":"Taishan Scholar Project of Shandong Province","award":["81872712","82173624","ZR2019ZD02"],"award-info":[{"award-number":["81872712","82173624","ZR2019ZD02"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Genome-wide association study (GWAS) of Juvenile idiopathic arthritis (JIA) suffers from low power due to limited sample size and the interpretation challenge due to most signals located in non-coding regions. Gene-level analysis could alleviate these issues. Using GWAS summary statistics, we performed two typical gene-level analysis of JIA, transcriptome-wide association studies (TWAS) using FUnctional Summary-based ImputatiON (FUSION) and gene-based analysis using eQTL Multi-marker Analysis of GenoMic Annotation (eMAGMA), followed by comprehensive enrichment analysis. Among 33 overlapped significant genes from these two methods, 11 were previously reported, including TYK2 (PFUSION = 5.12 \u00d7 10\u22126, PeMAGMA = 1.94 \u00d7 10\u22127 for whole blood), IL-6R (PFUSION = 8.63 \u00d7 10\u22127, PeMAGMA = 2.74 \u00d7 10\u22126 for cells EBV-transformed lymphocytes), and Fas (PFUSION = 5.21 \u00d7 10\u22125, PeMAGMA = 1.08 \u00d7 10\u22126 for muscle skeletal). Some newly plausible JIA-associated genes are also reported, including IL-27 (PFUSION = 2.10 \u00d7 10\u22127, PeMAGMA = 3.93 \u00d7 10\u22128 for Liver), LAT (PFUSION = 1.53 \u00d7 10\u22124, PeMAGMA = 4.62 \u00d7 10\u22127 for Artery Aorta), and MAGI3 (PFUSION = 1.30 \u00d7 10\u22125, PeMAGMA = 1.73 \u00d7 10\u22127 for Muscle Skeletal). Enrichment analysis further highlighted 4 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways and 10 Gene Ontology (GO) terms. Our findings can benefit the understanding of genetic determinants and potential therapeutic targets for JIA.<\/jats:p>","DOI":"10.3390\/ijms232113555","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T11:56:36Z","timestamp":1667908596000},"page":"13555","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Integrative Analysis of Transcriptome-Wide Association Study and Gene-Based Association Analysis Identifies In Silico Candidate Genes Associated with Juvenile Idiopathic Arthritis"],"prefix":"10.3390","volume":"23","author":[{"given":"Shuai","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Biostatistics, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"},{"name":"Institute for Medical Dataology, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiming","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"},{"name":"Institute for Medical Dataology, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"},{"name":"Institute for Medical Dataology, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ran","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"},{"name":"Institute for Medical Dataology, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shukang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"},{"name":"Institute for Medical Dataology, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongshang","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"},{"name":"Institute for Medical Dataology, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/j.autrev.2016.07.004","article-title":"Systemic-onset juvenile idiopathic arthritis","volume":"15","author":"Cimaz","year":"2016","journal-title":"Autoimmun. 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