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http://purl.uniprot.org/citations/12891548http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12891548http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12891548http://www.w3.org/2000/01/rdf-schema#comment"

Background & aims

We recently put forward arguments in favor of ABCB4 gene (adenosine triphosphate-binding cassette, subfamily B, member 4) defects as a risk factor for symptomatic cholelithiasis in adults. In this study, we characterized ABCB4 gene mutations in a series of patients with symptomatic cholelithiasis to determine the genetic basis and the clinical phenotype of ABCB4 gene mutation-associated cholelithiasis.

Methods

We analyzed the entire ABCB4 gene coding sequences in a first group of 32 patients who had a clinical history compatible with the syndrome previously described, in a second group of 28 patients who presented with a classic gallstone disease that justified a cholecystectomy, and in a third group of 33 patients without a history of cholelithiasis.

Results

We identified both heterozygous and homozygous ABCB4 gene point mutations in 18 of 32 (56%) patients who presented with clinical criteria of the syndrome, whereas no mutation was detected in the 2 other groups of patients (P < 0.001). Three independent clinical features were strongly associated with point mutations: recurrence of symptoms after cholecystectomy (odds ratio, 8.5); intrahepatic hyperechoic foci, intrahepatic sludge, or microlithiasis (odds ratio, 6.1); and age <40 years at the onset of symptoms (odds ratio, 3.0). ABCB4 gene point mutations were detected exclusively in the patients who showed 2 or 3 of these clinical features.

Conclusions

Our results show that ABCB4 gene mutations represent a major genetic risk factor in a symptomatic and recurring form of cholelithiasis in young adults."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.org/dc/terms/identifier"doi:10.1016/s0016-5085(03)00898-9"xsd:string
http://purl.uniprot.org/citations/12891548http://purl.org/dc/terms/identifier"doi:10.1016/s0016-5085(03)00898-9"xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Rosmorduc O."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Rosmorduc O."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Hermelin B."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Hermelin B."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Boelle P.Y."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Boelle P.Y."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Parc R."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Parc R."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Poupon R."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Poupon R."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Taboury J."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/author"Taboury J."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/date"2003"xsd:gYear
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/date"2003"xsd:gYear
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/name"Gastroenterology"xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/name"Gastroenterology"xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/pages"452-459"xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/pages"452-459"xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/title"ABCB4 gene mutation-associated cholelithiasis in adults."xsd:string
http://purl.uniprot.org/citations/12891548http://purl.uniprot.org/core/title"ABCB4 gene mutation-associated cholelithiasis in adults."xsd:string
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