{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:37:48Z","timestamp":1787017068463,"version":"build-2736575974"},"reference-count":113,"publisher":"BMJ","issue":"3","license":[{"start":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T00:00:00Z","timestamp":1748995200000},"content-version":"unspecified","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Tianjin Key Medical Discipline(Specialty) Construction Project","award":["TJYXZDXK-040A"],"award-info":[{"award-number":["TJYXZDXK-040A"]}]},{"name":"Tianjin Applied Basic Research Project","award":["No.22JCZDJC00290"],"award-info":[{"award-number":["No.22JCZDJC00290"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["World Jnl Ped Surgery"],"accepted":{"date-parts":[[2025,5,14]]},"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:p>Biliary atresia (BA) is a lethal hepatobiliary disorder in infants characterized by progressive destruction of intrahepatic and extrahepatic bile ducts and obstructive biliary fibrosis. Although hepatic portoenterostomy (Kasai procedure) can temporarily reconstruct bile drainage, persistent postoperative inflammation and hepatic fibrosis still lead to over half of the patients requiring liver transplantation for survival. Epidemiological studies reveal significant geographical and ethnic disparities in BA incidence, suggesting that genetic susceptibility plays an indispensable role in its pathogenesis. This article is based on the multidimensional interactive pathogenic hypothesis of BA of \u2018embryonic developmental abnormalities, perinatal injury, and dysregulated immune microenvironment\u2019 in addition to progressive hepatobiliary fibrosis. We review advances in the genetic and epigenetic regulatory networks of BA with the aim of providing ideas for future genetic research on this disease.<\/jats:p>","DOI":"10.1136\/wjps-2025-001023","type":"journal-article","created":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T05:15:13Z","timestamp":1749186913000},"page":"e001023","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic background and biliary atresia"],"prefix":"10.1136","volume":"8","author":[{"given":"Yu","family":"Meng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianhui","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaowen","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingyuan","family":"Ke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5257-8619","authenticated-orcid":false,"given":"Jianghua","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,6,6]]},"reference":[{"key":"2025081809570607000_8.3.e001023.1","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1016\/j.jpedsurg.2015.03.062","article-title":"Conditional probability of survival in patients with biliary atresia after Kasai portoenterostomy: a Chinese population-based study","volume":"50","author":"Qiao","year":"2015","journal-title":"J Pediatr Surg"},{"key":"2025081809570607000_8.3.e001023.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2007.05.051"},{"key":"2025081809570607000_8.3.e001023.3","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-024-00533-x"},{"key":"2025081809570607000_8.3.e001023.4","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.gene.2017.07.027","article-title":"Association of common genetic variants in VEGFA with biliary atresia susceptibility in Northwestern Han Chinese","volume":"628","author":"Liu","year":"2017","journal-title":"Gene"},{"key":"2025081809570607000_8.3.e001023.5","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1007\/s00383-023-05491-1","article-title":"The correlation between rs2501577 gene polymorphism and biliary atresia: a systematic review and meta-analysis","volume":"39","author":"Li","year":"2023","journal-title":"Pediatr Surg Int"},{"key":"2025081809570607000_8.3.e001023.6","doi-asserted-by":"crossref","first-page":"7163","DOI":"10.18632\/aging.103067","article-title":"Association of common variation in ADD3 and GPC1 with biliary atresia susceptibility","volume":"12","author":"Bai","year":"2020","journal-title":"Aging (Milano)"},{"key":"2025081809570607000_8.3.e001023.7","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1097\/MPG.0000000000002531","article-title":"A Novel CFC1 Mutation in a Family With Heterotaxy and Biliary Atresia Splenic Malformation Syndromes","volume":"70","author":"Gonzales","year":"2020","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2025081809570607000_8.3.e001023.8","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-018-0605-y"},{"key":"2025081809570607000_8.3.e001023.9","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.jss.2020.07.003","article-title":"Inflammation Drives MicroRNAs to Limit Hepatocyte Bile Acid Transport in Murine Biliary Atresia","volume":"256","author":"Azeltine","year":"2020","journal-title":"J Surg Res"},{"key":"2025081809570607000_8.3.e001023.10","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1097\/MPG.0000000000000573","article-title":"miR-222 overexpression may contribute to liver fibrosis in biliary atresia by targeting PPP2R2A","volume":"60","author":"Dong","year":"2015","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2025081809570607000_8.3.e001023.11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev-pathmechdis-012418-013013","article-title":"Development of the Intrahepatic and Extrahepatic Biliary Tract: A Framework for Understanding Congenital Diseases","volume":"15","author":"Lemaigre","year":"2020","journal-title":"Annu Rev Pathol"},{"key":"2025081809570607000_8.3.e001023.12","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2009.02.051"},{"key":"2025081809570607000_8.3.e001023.13","doi-asserted-by":"crossref","DOI":"10.1016\/j.ebiom.2021.103689","article-title":"Biliary Atresia - 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