{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Glessner JT"],"funding":["NIBIB NIH HHS","NCATS NIH HHS","NIDDK NIH HHS","NCRR NIH HHS","NHLBI NIH HHS"],"pagination":["1385-1395"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10729795"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["79(6)"],"pubmed_abstract":["<h4>Background & aims</h4>Biliary atresia (BA) is poorly understood and leads to liver transplantation (LT), with the requirement for and associated risks of lifelong immunosuppression, in most children. We performed a genome-wide association study (GWAS) to determine the genetic basis of BA.<h4>Methods</h4>We performed a GWAS in 811 European BA cases treated with LT in US, Canadian and UK centers, and 4,654 genetically matched controls. Whole-genome sequencing of 100 cases evaluated synthetic association with rare variants. Functional studies included whole liver transcriptome analysis of 64 BA cases and perturbations in experimental models.<h4>Results</h4>A GWAS of common single nucleotide polymorphisms (SNPs), i.e. allele frequencies >1%, identified intronic SNPs rs6446628 in AFAP1 with"],"journal":["Journal of hepatology"],"pubmed_title":["Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes."],"pmcid":["PMC10729795"],"funding_grant_id":["UL1 TR000130","U01 DK062497","U01 DK062453","U01 DK062470","U01 DK103149","UL1 TR002378","U24 DK062456","U01 DK062436","UL1 TR002535","U01 DK062456","R01 HL153407","R01 EB028532","U01 DK103140","U01 DK062481","UL1 TR001872","U01 DK103135","R01 DK109365","UL1 TR000423","U01 DK084575","U01 DK062445","U01 DK084538","U01 DK062500","UM1 TR004399","UL1 TR001857","U01 DK084536","U01 DK062466","UL1 TR001878","UL1 RR025014","R01 EB024562"],"pubmed_authors":["Ningappa MB","So J","Paul M","Higgs BW","Sleiman PMA","Sindhi R","Schmitt L","Rajasundaram D","Gittes GK","Kelly D","Velazquez J","Wang X","Subramaniam S","Salgado CM","Vaccaro C","Ashokkumar C","Narayanan T","Li D","Horslen S","Zahid M","Sharif K","March M","Ebrahimkhani MR","Billings J","Prasadan K","Squires R","Dhawan A","Lo CW","Reyes-Mugica M","Shin D","Hakonarson H","Pellegrino R","Ngo KA","Glessner JT","Ranganathan S"],"additional_accession":[]},"is_claimable":false,"name":"Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.","description":"<h4>Background & aims</h4>Biliary atresia (BA) is poorly understood and leads to liver transplantation (LT), with the requirement for and associated risks of lifelong immunosuppression, in most children. We performed a genome-wide association study (GWAS) to determine the genetic basis of BA.<h4>Methods</h4>We performed a GWAS in 811 European BA cases treated with LT in US, Canadian and UK centers, and 4,654 genetically matched controls. Whole-genome sequencing of 100 cases evaluated synthetic association with rare variants. Functional studies included whole liver transcriptome analysis of 64 BA cases and perturbations in experimental models.<h4>Results</h4>A GWAS of common single nucleotide polymorphisms (SNPs), i.e. allele frequencies >1%, identified intronic SNPs rs6446628 in AFAP1 with","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Dec","modification":"2026-05-28T08:45:28.55Z","creation":"2024-11-13T17:22:50.876Z"},"accession":"S-EPMC10729795","cross_references":{"pubmed":["37572794"],"doi":["10.1016/j.jhep.2023.07.039"]}}