Investigation of the Lith1 candidate genes ABCB11 and LXRA in human gall stone disease
C Schafmayer, J Tepel, JH Egberts, A Franke, S Buch, M Seeger, F Lammert, B Kremer, UR Fölsch, F Fändrich, S Schreiber, J Hampe · Zeitschrift für Gastroenterologie · 2006 · Heft 09
Bibliografische Angaben
Zusammenfassung
Aims: Genetic susceptibility in the aetiology of gallbladder diseases has been recognized as early as 1937. A major gallstone susceptibility locus (Lith1) was identified in 1995 by quantitative trait locus mapping in mice. Two attractive positional and functional candidate genes in LXRA and ABCB11 are located in this interval. ABCB11 is associated with progressive familial cholestasis. Aims: To investigate LXRA and ABCB11 as candidate genes for gallstone disease in man. Patients and methods: Seven hundred and thirtysix patients who underwent cholecystectomy for symptomatic gallstone disease (median age of onset…