Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2

Garcia-Barcelo, M.-M.; Yeung, M.-Y.; Miao, Xiaoping; Tang, C. S.-M.; Cheng, G.; So, M.-T.; Ngan, Elly Sau-Wai; Lui, V. C.-H.; Y., Chen,; Liu, X.-L.; Hui, K.-J. W. S.; Li, L.; Guo, W.-H.; Sun, X.-B.; Tou, J.-F.; Chan, K.-W.; Wu, Xizhi; Song, You‐Qiang; Chan, D.; Cheung, K.; Chung, P. H.-Y.; Wong, K. K.-Y.; Sham, P.-C.; Cherny, Stacey S.; Tam, P. K.-H.

doi:10.1093/hmg/ddq540

Cited by 20 publications

(29 citation statements)

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“…In fact, Reoviridae (type 3 reovirus and type C rotavirus) and herpes virus including cytomegalovirus have all been considered possible candidates for the initiating agent 1. Studies in the rotavirus mouse model of BA indicate that a viral infection of the biliary epithelium is an initial event leading to biliary inflammation and obstruction and autoreactive T cells and autoantibodies specific to bile duct epithelia have been reported 3 18. Specific host factors related to innate and acquired immunopathological processes with respect to viral infection may also play a key role in experimental BA 3.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, many genetic studies, moreover, have recently reported. For example, genomic study including genome-wide association study identified a susceptibility locus for BA on 10q24.2 and 2q37.3 18 19. Moreover, DNA hypermethylation at the CD11a locus in CD4+ cells, polymorphisms of vascular endothelial growth factor gene, and two microRNAs (miR-29a/29b1) may contribute significantly to BA susceptibility, but polymorphisms of IL-4, IL-18, IFN-γ genes were unlikely 20–25.…”

Section: Discussionmentioning

confidence: 99%

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Participation of natural killer cells in the pathogenesis of bile duct lesions in biliary atresia

et al. 2012

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Aims: Immunological disturbances including innate immunity after a suspected viral infection are considered important to the pathogenesis of bile duct lesions in cases of biliary atresia (BA). Herein, we tried to evaluate whether natural killer (NK) cells and CX3CL1 (Fractalkine) and its receptor (CX3CR1) are involved in the bile duct injury. Methods: Using the section of BA (22 cases) and controls, immunohistochemistry for CD56, CD16, CD68, CX3CL1, and CX3CR1 was performed. Moreover, using cultured biliary epithelial cells (BECs) and NK cells, the production of CX3CL1 in BECs and the migration of NK cells were evaluated.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Participation of natural killer cells in the pathogenesis of bile duct lesions in biliary atresia

et al. 2012

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“…Promising observations have linked mutations in the CFC1 gene with patients with laterality defects (27, 28), and single nucleotide polymorphisms (SNPs) have been reported as potential susceptibility factors for biliary atresia (in general), such as CD14 and MIF (29, 30). A genome-wide association study of 200 Chinese children with biliary atresia identified high prevalence of SNP rs17095355 on 10q24 in children with biliary atresia, which was validated in an independent patient population of 124 infants (31). At this time, the biological relevance of this SNP is not known.…”

Section: Introductionmentioning

confidence: 89%

Biliary Atresia: Will Blocking Inflammation Tame the Disease?

Bessho

Bezerra

2011

Annu. Rev. Med.

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Biliary atresia is the most common cholangiopathy of childhood. With complete obstruction of segments or the entire length of extrahepatic bile ducts, the timely pursuit of hepatoportoenterostomy is the best strategy to restore bile drainage. However, even with prompt surgical intervention, ongoing injury of intrahepatic bile ducts and progressive cholangiopathy lead to end-stage cirrhosis. The pace of disease progression is not uniform; it may relate to clinical forms of disease and/or staging of liver pathology at diagnosis. Although the etiology of disease is not yet defined, several biological processes have been linked to pathogenic mechanisms of bile duct injury. Among them, there is increasing evidence that the immune system targets the duct epithelium and disrupts bile flow. In this review, we discuss how careful clinical phenotyping, staging of disease, and pre-clinical research give insight into response to ongoing trials and rational design of new therapies to block progression of disease.

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“…Studies involving the surgical removal of biliary obstruction have revealed that, in most cases, the preformed bile ducts are affected by inflammatory processes, the causes of which are still poorly understood. BA may represent a phenotype resulting from factors which lead to biliary obstruction and include developmental anomalies, infections, vascular alterations and exposure to toxins [2,4,5] .…”

Section: Biliary Atresiamentioning

confidence: 99%

Cirrhosis in children and adolescents: An overview

Pinto

Schneider

Silveira

2015

WJH

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Several conditions, especially chronic liver diseases, can lead to cirrhosis in children and adolescents. Most cases in clinical practice are caused by similar etiologies. In infants, cirrhosis is most often caused by biliary atresia and genetic-metabolic diseases, while in older children, it tends to result from autoimmune hepatitis, Wilson's disease, alpha-1-antitrypsin deficiency and primary sclerosing cholangitis. The symptoms of cirrhosis in children and adolescents are similar to those of adults. However, in pediatric patients, the first sign of cirrhosis is often poor weight gain. The complications of pediatric cirrhosis are similar to those observed in adult patients, and include gastrointestinal bleeding caused by gastroesophageal varices, ascites and spontaneous bacterial peritonitis. In pediatric patients, special attention should be paid to the nutritional alterations caused by cirrhosis, since children and adolescents have higher nutritional requirements for growth and development. Children and adolescents with chronic cholestasis are at risk for several nutritional deficiencies. Malnutrition can have severe consequences for both pre-and post-liver transplant patients. The treatment of cirrhosis-induced portal hypertension in children and adolescents is mostly based on methods developed for adults. The present article will review the diagnostic and differential diagnostic aspects of end-stage liver disease in children, as well as the major treatment options for this condition.

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Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2

Cited by 20 publications

References 0 publications

Participation of natural killer cells in the pathogenesis of bile duct lesions in biliary atresia

Participation of natural killer cells in the pathogenesis of bile duct lesions in biliary atresia

Biliary Atresia: Will Blocking Inflammation Tame the Disease?

Cirrhosis in children and adolescents: An overview

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