Exploration of the Gene Encoding the Nuclear Bile Salt Receptor FXR as a Cholesterol Gallstone Susceptibility (LITH) Gene in a Mexican Population

Introduction: We employ QTL mapping to identify genomic regions that harbor cholesterol gallstone susceptibility genes (Lith loci) in inbred mice. In a previous intercross of gallstone susceptible and resistant inbred mouse strains, we detected a Lith locus on chromosome (Chr) 10 named Lith7. Our analysis of parental strains and offspring provided evidence that the gene encoding the nuclear bile salt receptor FXR (Nr1h4) underlies Lith7. Aims & Methods: To translate our findings from inbred mice to man, we aimed to identify genetic variation of NR1H4 in a Mexican population that displays an association of high g…