Frequency of common CYP1B1 polymorphic variations in Delhi population of Northern India.

Cytochrome P4501B1 (CYP1B1) is an extrahepatic enzyme, important in the activation of procarcinogens. It is expressed in steroidegenic tissues and is active in the metabolism of estradiol. CYP1B1 polymorphisms have been shown to be associated with cancer susceptibility related to environmental toxins and hormone exposure. CYP1B1 is also involved in the metabolism of some clinically relevant anticancer drugs. Polymorphisms in the gene have also been associated in primary open-angle glaucoma (POAG). Their genotypes may also display ethnicity dependent population frequencies. Present study was aimed to determine the frequency of five known CYP1B1 polymorphisms in Delhi population. Frequency of CYP1B1 polymorphisms, CYP1B1*2, CYP1B1*3, CYP1B1*4 and CYP1B1*7 were found to be 39, 48.8, 47.3 and 17.07% respectively in normal, healthy individuals. Arg48Gly and Ala119Ser were found to be completely linked with each other. Analysis of CYP1B1 polymorphisms might help in predicting the risk of cancer as well as susceptibility to POAG. Our results emphasize the need for more such studies in "high risk populations".