Variation of the gene encoding the nuclear bile salt receptor FXR and gallstone susceptibility in mice and humans

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dc.contributor.authorKovacs, Peter
dc.contributor.authorKress, Rahel
dc.contributor.authorRocha, Jacqueline
dc.contributor.authorKurtz, Ulrike
dc.contributor.authorMiquel, Juan Francisco
dc.contributor.authorNervi, Flavio
dc.contributor.authorMendez Sanchez, Nahum
dc.contributor.authorUribe, Misael
dc.contributor.authorBock, Hans H.
dc.contributor.authorSchirin Sokhan, Ramin
dc.contributor.authorStumvoll, Michael
dc.contributor.authorMoessner, Joachim
dc.contributor.authorLammert, Frank
dc.contributor.authorWittenburg, Henning
dc.date.accessioned2024-01-10T14:22:25Z
dc.date.available2024-01-10T14:22:25Z
dc.date.issued2008
dc.description.abstractBackground/Aims: From quantitative trait locus mapping in inbred mice, we identified the Nr1h4 gene encoding the nuclear bile salt receptor FXR as a candidate gene for the cholesterol gallstone susceptibility locus Lith7. Here, we investigated further an association of the gene encoding FXR and gallstone susceptibility in mice and humans.
dc.description.abstractMethods: The Nr1h4 gene was sequenced in inbred mouse strains with susceptible and resistant Lith7 alleles. Quantitative RT-PCR was employed to determine mRNA expression levels. Gallstone carriers and control subjects of three different populations comprising 1004 individuals were genotyped for polymorphisms of the orthologous human gene detected by sequencing.
dc.description.abstractResults: Expression and sequence analyses in inbred mice were consistent with Nr1h4 underlying Lith7. In the human populations, we identified three frequent haplotypes that accounted for > 95% of all haplotypes observed. In a Mexican population, the most common haplotype NR1H4_1 was associated with gallstone prevalence. In contrast, NR1H4_1 displayed no association with gallstone prevalence in a German population, whereas in a Chilean population we observed a trend towards a protective effect of NR1H4_1.
dc.description.abstractConclusions: Our study in an inbred mouse model and in three ethnically distinct populations indicates complex interactions of NR1H4 alleles and other risk factors for the development of cholelithiasis. (c) 2007 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
dc.fechaingreso.objetodigital27-03-2024
dc.format.extent9 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1016/j.jhep.2007.07.027
dc.identifier.issn0168-8278
dc.identifier.pubmedidMEDLINE:17931734
dc.identifier.urihttps://doi.org/10.1016/j.jhep.2007.07.027
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79929
dc.identifier.wosidWOS:000252257200018
dc.information.autorucMedicina;Miquel J;S/I;72216
dc.information.autorucMedicina;Nervi F;S/I;99156
dc.issue.numero1
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final124
dc.pagina.inicio116
dc.publisherELSEVIER SCIENCE BV
dc.revistaJOURNAL OF HEPATOLOGY
dc.rightsacceso restringido
dc.subjectcholelithiasis
dc.subjectbile salt
dc.subjectgenetics
dc.subjectLITH gene
dc.subjectquantitative trait locus
dc.subjectFARNESOID-X-RECEPTOR
dc.subjectHAPLOTYPE RECONSTRUCTION
dc.subjectGALLBLADDER STONES
dc.subjectFACTOR 4-ALPHA
dc.subjectACID SYNTHESIS
dc.subjectINBRED MICE
dc.subjectLITH GENES
dc.subjectDISEASE
dc.subjectPOPULATION
dc.subjectHOMEOSTASIS
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleVariation of the gene encoding the nuclear bile salt receptor FXR and gallstone susceptibility in mice and humans
dc.typeartículo
dc.volumen48
sipa.codpersvinculados72216
sipa.codpersvinculados99156
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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