Genetics of gallstone disease
Mittal B, Mittal R
Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow – 226014, India. , India
Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow – 226014, India.
Gallstone disease is a complex disorder where both environmental and genetic factors contribute towards susceptibility to the disease. Epidemiological and family studies suggest a strong genetic component in the causation of this disease. Several genetically derived phenotypes in the population are responsible for variations in lipoprotein types, which in turn affect the amount of cholesterol available in the gall bladder. The genetic polymorphisms in various genes for apo E, apo B, apo A1, LDL receptor, cholesteryl ester transfer and LDL receptor-associated protein have been implicated in gallstone formation. However, presently available information on genetic differences is not able to account for a large number of gallstone patients. The molecular studies in the animal models have not only confirmed the present paradigm of gallstone formation but also helped in identification of novel genes in humans, which might play an important role in pathogenesis of the disease. Precise understanding of such genes and their molecular mechanisms may provide the basis of new targets for rational drug designs and dietary interventions.
Keywords: Cholelithiasis, epidemiology,genetics,Cholesterol, genetics,Female, Genetic Predisposition to Disease, Human, Incidence, Male, Pedigree, Polymorphism (Genetics), Prognosis, Risk Factors,
J Postgrad Med 2002;48:149-52.
Gallstone disease is a major health problem worldwide, particularly in adult population. Incidence of the gallstone disease shows considerable geographical and regional variations. In United States, approximately 10-15% of adults have gallstones. In Latin-American countries; the prevalence of gallstone disease is even higher (up to 50% in the adult women). Its occurrence has been found to be at least 6% in the adult population of North India. The risk of gallstone formation is associated with sex, obesity, age, family history and ethnic background of the individuals in the population., Gallstones are more common in women than men at all ages. The reason for considerable variation in gallstone disease in the population is complex because it involves the interaction of multiple genes with varied environmental factors. The present review will mainly highlight the genetic factors that may be involved in the formation of cholesterol gallstones.