Investigation of the Lith1 candidate genes ABCB11 and LXRA in human gallstone disease
Clemens Schafmayer, Jürgen Tepel, Andre Franke, Stephan Buch, Sören Lieb, Marcus Seeger, Frank Lammert, Bernd Kremer, Ulrich R. Fölsch, Fred Fändrich, Stefan Schreiber, Jochen Hampe – 29 August 2006 – Genetic susceptibility in the causation of gallbladder diseases was 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.