{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T16:42:02Z","timestamp":1790095322531,"version":"4.0.1"},"reference-count":54,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T00:00:00Z","timestamp":1697414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Primary biliary cholangitis (PBC) is an autoimmune disorder characterized by intrahepatic bile duct destruction and cholestatic liver injury. Diagnosis of PBC is generally based on the existence of anti-mitochondrial antibody (AMA) in blood samples; however, some PBC patients are negative for serum AMA tests, and invasive liver histological testing is required in rare PBC cases. The current study seeks novel candidate genes that are associated with PBC status and have potentials for blood diagnostic testing. Human transcriptomic profiling data of liver and blood samples were obtained from Gene Expression Omnibus (GEO). Three GEO data series (GSE79850, GSE159676, and GSE119600) were downloaded, and bioinformatic analyses were performed. Various differentially expressed genes were identified in three data series by comparing PBC patients and control individuals. Twelve candidate genes were identified, which were upregulated in both liver tissues and blood samples of PBC patients in all three data series. The enrichment analysis demonstrated that 8 out of 12 candidate genes were associated with biological functions, which were closely related to autoimmune diseases including PBC. Candidate genes, especially ITGAL showed good potentials to distinguish PBC with other diseases. These candidate genes could be useful for diagnostic blood testing of PBC, although further clinical studies are required to evaluate their potentials as diagnostic biomarkers.<\/jats:p>","DOI":"10.1371\/journal.pone.0292998","type":"journal-article","created":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T17:24:31Z","timestamp":1697477071000},"page":"e0292998","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":7,"title":["Bioinformatic analysis identified novel candidate genes with the potentials for diagnostic blood testing of primary biliary cholangitis"],"prefix":"10.1371","volume":"18","author":[{"given":"Hoang Nam","family":"Pham","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linh","family":"Pham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5380-8001","authenticated-orcid":true,"given":"Keisaku","family":"Sato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2023,10,16]]},"reference":[{"issue":"3","key":"pone.0292998.ref001","doi-asserted-by":"crossref","first-page":"170","DOI":"10.32074\/1591-951X-245","article-title":"Autoimmune biliary diseases: primary biliary cholangitis and primary sclerosing cholangitis.","volume":"113","author":"S Sarcognato","year":"2021","journal-title":"Pathologica"},{"key":"pone.0292998.ref002","article-title":"Secretin alleviates biliary and liver injury during late-stage primary biliary cholangitis via restoration of secretory processes","author":"L Kennedy","year":"2022","journal-title":"J Hepatol"},{"issue":"1","key":"pone.0292998.ref003","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1038\/s41395-018-0390-3","article-title":"Diagnosis and management of primary biliary cholangitis","volume":"114","author":"ZM Younossi","year":"2019","journal-title":"Am J Gastroenterol"},{"issue":"9","key":"pone.0292998.ref004","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.14309\/ajg.0000000000001280","article-title":"Ursodeoxycholic acid response is associated with reduced mortality in primary biliary cholangitis with compensated cirrhosis","volume":"116","author":"BV John","year":"2021","journal-title":"Am J Gastroenterol"},{"issue":"3","key":"pone.0292998.ref005","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.jhep.2021.04.010","article-title":"Association of bezafibrate with transplant-free survival in patients with primary biliary cholangitis","volume":"75","author":"A Tanaka","year":"2021","journal-title":"J Hepatol"},{"issue":"6","key":"pone.0292998.ref006","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1053\/j.gastro.2022.08.054","article-title":"Greater transplant-free survival in patients receiving obeticholic acid for primary biliary cholangitis in a clinical trial setting compared to real-world external controls","volume":"163","author":"CF Murillo Perez","year":"2022","journal-title":"Gastroenterology"},{"issue":"5","key":"pone.0292998.ref007","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.jhep.2009.11.027","article-title":"Primary biliary cirrhosis: A 2010 update","volume":"52","author":"R. 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