Prevalence of Selected Candidate Single Nucleotide Polymorphisms in a Healthy North Indian Population and their Association with Breast Cancer

Abstract

This thesis work includes two studies (Study-I and II). In Study-I we have investigated CYP2C8*2, CYP2C8*3 (G416A), CYP2C8*3 (A1196G), CYP2C8*4 and CTLA-4 +49 G/A polymorphisms in a healthy North Indian population. Based upon their prevalence in Study-I, selected polymorphism(s) were further investigated in North Indian breast cancer patients in Study-II. Several investigators in the past have studied different single nucleotide polymorphisms in normal healthy humans of North India and many other global populations. Studies in different normal healthy populations like these are crucial for the understanding of ethnic/racial differences that exist at the genetic level with respect to various diseases including cancer. Genetic polymorphisms are also thought to be the molecular basis of ethnic variability in drug response and/or adverse reactions. CYP2C8*2, CYP2C8*3 (G416A, A1196G), CYP2C8*4 and CTLA-4 +49 G/A polymorphisms were selected for this research primarily due to their importance and lack of available data in our North Indian population.