A variant in a gene encoding a cholesterol transporter of the liver more than doubles the risk of gallstone disease, reports a paper online in Nature Genetics. With a prevalence of 10-20%, gallstones are one of the more common health problems in industrialized countries, causing potentially serious organ damage or infection.
Susceptibility to gallstone disease is known to be influenced by genetic factors, but little progress has been made in identifying them. Jochen Hampe and colleagues carried out a genome-wide association study of gallstone disease in two groups of Germans, as well as follow-up studies of affected individuals in Germany and Chile. They found a single variant that alters the sequence of ABCG8 -- a liver cholesterol transporter -- to be associated with the disease.
Gallstones occur when components of bile, such as cholesterol or bilirubin, are present in elevated levels and harden into stones. The association reported by the authors was strongest in individuals with cholesterol gallstones, suggesting that the ABCG8 risk variant may promote more efficient cholesterol transport into the bile. Bile is produced by the liver and stored in the gallbladder until it is needed to digest fat, and removal of the gallbladder is the most common treatment for gallstone disease.
Jochen Hampe (University Hospital Schleswig-Holstein, Kiel, Germany)
Abstract available online.
(C) Nature Genetics press release.
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