{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T05:51:52Z","timestamp":1763704312195,"version":"3.40.5"},"reference-count":40,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,8,1]]},"abstract":"<jats:p>Objective.To investigate whether single-nucleotide polymorphisms in the promoter regions of endotoxin-responsive genes CD14 and tumor necrosis factor-\u03b1 (TNF-\u03b1) are associated with biliary atresia (BA) and idiopathic neonatal cholestasis (INC).<\/jats:p><jats:p>Methods.We obtained genomic DNA from 90 patients with established diagnosis of BA and 28 patients with INC. Forty-two adult patients with hepatitis B\u2013related cirrhosis and 143 healthy children served as control populations. The genotypes of CD14\/C(\u2212159)T and TNF-\u03b1\/G(\u2212308)A (G allele, TNF*1; A allele, TNF*2) were determined by using a restriction enzyme\u2013based assay. Plasma soluble CD14 levels were determined in different disease stages and genotypes of BA.<\/jats:p><jats:p>Results.The frequencies of T allele and T\/T homozygosity of the CD14\/\u2212159 promoter polymorphism were significantly higher in patients with BA (T allele: 61.7%; T\/T genotype: 42.2%) and in patients with INC (T allele: 67.9%; T\/T genotype: 53.6%) but not in control populations. Decrease of plasma soluble CD14 from the early stage of BA when the patients received a Kasai operation to the late stage of liver cirrhosis was observed in carriers of the T\/T and T\/C genotypes but not in carriers of the C\/C genotype. The TNF-\u03b1\/\u2212308 promoter polymorphisms (TNF*1 and TNF*2) were not associated with BA.<\/jats:p><jats:p>Conclusion.These findings show that the single-nucleotide polymorphism at CD14\/\u2212159 is associated with the development of BA and INC. Endotoxin susceptibility may play a role in the pathogenesis of infantile cholestasis.<\/jats:p>","DOI":"10.1542\/peds.2004-1900","type":"journal-article","created":{"date-parts":[[2005,8,2]],"date-time":"2005-08-02T14:55:38Z","timestamp":1122994538000},"page":"437-441","source":"Crossref","is-referenced-by-count":31,"title":["Promoter Polymorphism of the CD14 Endotoxin Receptor Gene Is Associated With Biliary Atresia and Idiopathic Neonatal Cholestasis"],"prefix":"10.1542","volume":"116","author":[{"given":"Hsiang-Hung","family":"Shih","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Chang-Gung Memorial Hospital at Chiayi, Pu-Tz City, Chiayi Hsien, Taiwan"},{"name":"Graduate Institute of Clinical Medical Sciences, Chang Gung University, Kaohsiung, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsun-Mei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Medical Laboratory Science and Biotechnology, National Cheng Kung University, Tainan, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiin-Haur","family":"Chuang","sequence":"additional","affiliation":[{"name":"Surgery"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hock-Liew","family":"Eng","sequence":"additional","affiliation":[{"name":"Pathology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suh-Hang Hank","family":"Juo","sequence":"additional","affiliation":[{"name":"Graduate Institute of Medicine; Kaohsiung Medical University Hospital, Kaohsiung, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fu-Chen","family":"Huang","sequence":"additional","affiliation":[{"name":"Pediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao-Long","family":"Chen","sequence":"additional","affiliation":[{"name":"Chang-Gung Memorial Hospital at Kaohsiung, Kaohsiung, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huey-Ling","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2005,8,1]]},"reference":[{"key":"2021121003195207900_R1","doi-asserted-by":"crossref","unstructured":"Sokol RJ, Mack C. 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