Journal
GASTROENTEROLOGY CLINICS OF NORTH AMERICA
Volume 39, Issue 2, Pages 185-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.gtc.2010.02.007
Keywords
Bile; Cholesterol; Lipid transporter; Liquid crystal; Lith gene; Micelle; Mucin; Nucleation
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Funding
- National Institutes of Health (US Public Health Service) [DK54012, DK73917]
- Italian Ministry of University and Research [FIRB 2003 RBAU01RANB002]
- Italian National Research Council (CNR) [2005]
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [R01DK073917, R01DK054012] Funding Source: NIH RePORTER
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Epidemiologic investigations, clinical observations, and family and twin studies in humans, as well as gallstone prevalence investigations in inbred mouse models, support the concept that cholesterol cholelithiasis could result from a complex interaction of environmental factors and the effects of multiple undetermined genes. Quantitative trait locus (QTL) analysis is a powerful genetic method for identifying primary rate-limiting genetic defects and discriminating them from secondary downstream lithogenic effects caused by mutations of the primary genes, and the subsequent positional cloning of such genes responsible for QTLs, followed by the use of manufactured mouse strains with knockout or knockin of the genes, could lead to the discovery of lithogenic actions of gallstone (LITH) genes. The combined use of genomic strategies and phenotypic studies in inbred strains of mice has successfully resulted in the identification of many candidate LITH genes. Because there is exceptionally close homology between mouse and human genomes, the orthologous human LITH genes can be identified from the mouse study. The discovery of LITH genes and more fundamental knowledge concerning the genetic determinants and molecular mechanisms underlying the formation of cholesterol gallstones in humans will pave the way for critical diagnostic and prelithogenic preventive measures for this exceptionally prevalent digestive disease.
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