ABSTRACT
Geographic and ethnic differences in gallstone prevalence rates and familial clustering
of cholelithiasis imply that genetic factors influence the risk of gallstone formation.
Recently, twin, family, and linkage studies confirmed a genetic predisposition to
the development of symptomatic gallstones. In rare instances, mutations in single
genes confer a substantial risk for the formation of gallstones. However, in the majority
of cases gallstones might develop as a result of lithogenic polymorphisms in several
genes and their interactions with multiple environmental factors, rendering gallstones
generally a complex genetic disorder. Some of the rare monogenic forms of cholelithiasis
were unraveled but the lithogenic genes that increase the susceptibility to cholelithiasis
in the majority of gallstone carriers remain elusive. Identification of these lithogenic
genes will provide novel means of risk assessment, strategies for prevention, and
targets for nonsurgical management of cholelithiasis, which currently is one of the
most expensive digestive disorders.
KEYWORDS
Association study - cholelithiasis - complex genetic disorder - gallstones -
LITH gene
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