| http://purl.uniprot.org/citations/37834180 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37834180 | http://www.w3.org/2000/01/rdf-schema#comment | "Nonsyndromic biliary atresia (BA) is a rare polygenic disease, with autoimmunity, virus infection and inflammation thought to play roles in its pathogenesis. We conducted a genome-wide association study in 336 nonsyndromic BA infants and 8900 controls. Our results validated the association of rs17095355 in ADD3 with BA risk (odds ratio (OR) = 1.70, 95% confidence interval (95% CI) = 1.49-1.99; p = 4.07 × 10-11). An eQTL analysis revealed that the risk allele of rs17095355 was associated with increased expression of ADD3. Single-cell RNA-sequencing data and immunofluorescence analysis revealed that ADD3 was moderately expressed in cholangiocytes and weakly expressed in hepatocytes. Immuno-fluorescent staining showed abnormal deposition of ADD3 in the cytoplasm of BA hepatocytes. No ADD3 auto-antibody was observed in the plasma of BA infants. In the HLA gene region, no variants achieved genome-wide significance. HLA-DQB1 residue Ala57 is the most significant residue in the MHC region (OR = 1.44, 95% CI = 1.20-1.74; p = 1.23 × 10-4), and HLA-DQB1 was aberrantly expressed in the bile duct cells. GWAS stratified by cytomegalovirus (CMV) IgM status in 87 CMV IgM (+) BA cases versus 141 CMV IgM (-) BA cases did not yield genome-wide significant associations. These findings support the notion that common variants of ADD3 account for BA risk. The HLA genes might have a minimal role in the genetic predisposition of BA due to the weak association signal. CMV IgM (+) BA patients might not have different genetic risk factor profiles compared to CMV IgM (-) subtype."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.org/dc/terms/identifier | "doi:10.3390/ijms241914719"xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Zhou Y."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Cai W."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Chu X."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Wu W.J."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Yu W.W."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Song H.L."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Gong Y.M."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Pan W.H."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Cui M.M."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Han X.R."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Gu B.L."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Bai M.R."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/author | "Pei H.Y."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/name | "Int J Mol Sci"xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/pages | "14719"xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/title | "Contribution of ADD3 and the HLA Genes to Biliary Atresia Risk in Chinese."xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://purl.uniprot.org/core/volume | "24"xsd:string |
| http://purl.uniprot.org/citations/37834180 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/37834180 |
| http://purl.uniprot.org/citations/37834180 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/37834180 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C543-mappedCitation-37834180 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37834180 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C548-mappedCitation-37834180 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37834180 |