[The role of CYP2C19 polymorphism in the development of adverse effects to drugs and the risk for diseases].

There are a great number of polymorphic genes in the human genome. Many of them codify enzymes that metabolizes drugs and xenobiotic agents, including carcinogens. Among the better known of them, there are a number of isozymes of the microsomal oxidative system (CYP3A4, CYP2C9, CYP2C19 y CYP2D6).

C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease.

Objective: To test the hypothesis that the heterozygous state for HFE gene mutations involved in the pathogenesis of hemochromatosis, that may induce an increase of hepatic iron content, may aggravate the liver damage induced by prolonged and excessive use of ethanol.

Patients And Methods: C282Y and H63D mutations of HFE gene were identified through polymerase chain reaction (PCR) on leukocyte DNA, in 125 consecutive patients diagnosed of advanced alcoholic liver disease (109 men, mean age 54 years, SD 11) and 181 healthy controls. All subjects were white Spaniards.