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Genetic Cause for Gallstones Identified in Indians

Researchers have discovered a genetic defect unique to Indians that causes the liver to excrete excess cholesterol into the bile.

A research team from the Asian Institute of Gastroenterology (AIG) has discovered a defect in the gene ABCG8 in the liver that leads to excess excretion of cholesterol into the bile in Indians.

Researchers, led by AIG Chairman D. Nageshwar Reddy, MD, found that though “distribution of single nucleotide polymorphism T400K between gallstone and gallstone-free groups…the distribution of the SNP variant D19H was significantly higher” in the gallstone group.

Dr. Reddy indicates that gallstones afflict approximately 50 million Indians, with rates of incidence running higher in women (10%) and the elderly (20%); men represent just 3% of cases.

The findings represent an opportunity, Dr. Reddy says, to develop a diagnostic test that can help patients take preventive action against gallstones, with the eventual goal being a genetic therapy that would prevent the development of gallstones altogether.

AIG and the Centre for Cellular and Molecular Biology, Hyderabad will conduct a nationwide study on the genetics of gall stones diseases under a project being supported by the Department of Biotechnology, he said.