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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\u20131.99; p = 4.07 \u00d7 10\u221211). 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\u20131.74; p = 1.23 \u00d7 10\u22124), 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 (\u2212) 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 (\u2212) subtype.<\/jats:p>","DOI":"10.3390\/ijms241914719","type":"journal-article","created":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T07:42:08Z","timestamp":1695973328000},"page":"14719","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Contribution of ADD3 and the HLA Genes to Biliary Atresia Risk in Chinese"],"prefix":"10.3390","volume":"24","author":[{"given":"Meng-Meng","family":"Cui","sequence":"first","affiliation":[{"name":"Department of Pediatric Surgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China"},{"name":"Shanghai Institute of Pediatric Research, Shanghai 200092, China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Ming","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Hua","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao-Yue","family":"Pei","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Pediatric Research, Shanghai 200092, China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Rong","family":"Bai","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Pediatric Research, Shanghai 200092, China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan-Lei","family":"Song","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Pediatric Research, Shanghai 200092, China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin-Ru","family":"Han","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Pediatric Research, Shanghai 200092, China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Jie","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Wen","family":"Yu","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Pediatric Research, Shanghai 200092, China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bei-Lin","family":"Gu","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Pediatric Research, Shanghai 200092, China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China"},{"name":"Shanghai Institute of Pediatric Research, Shanghai 200092, China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7440-1371","authenticated-orcid":false,"given":"Xun","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Xinhua Hospital Affiliated to 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