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Article

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

PLoS genetics - 1 Aug 2018

Chen Ying, Gilbert Melissa A, Grochowski Christopher M, McEldrew Deborah, Llewellyn Jessica, Waisbourd-Zinman Orith, Hakonarson Hakon, Bailey-Wilson Joan E, Russo Pierre, Wells Rebecca G, Loomes Kathleen M, Spinner Nancy B, Devoto Marcella

Abstract excerpt

Biliary atresia (BA) is a rare pediatric cholangiopathy characterized by fibrosclerosing obliteration of the extrahepatic bile ducts, leading to cholestasis, fibrosis, cirrhosis, and eventual liver failure. The etiology of BA remains unknown, although environmental, inflammatory, infectious, and genetic risk factors have been proposed. We performed a genome-wide association study (GWAS) in a European-American...

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Identifiers

PMID: 30102696
DOI: 10.1371/journal.pgen.1007532
PMCID: PMC6107291

Genes

EFEMP1

Provenance

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