Genetic Variations in a Caffeine Metabolism Gene in Human

Abstract

SNIPs are single base pair mutations in a particular region of DNA. In the human genome, SNPs appear approximately every 300 bases on average. If the human genome is 3.1 billion bases, that means there are approximately 10 million SNPs! Because SNPs can occur anywhere in the genome, they can have dramatic effects on protein expression and function or no effect at all. Caffeine is a widely used drug by 90% of the world population on a daily basis with 150 million regular coffee drinkers in the United States alone. Coffee consumption is beneficial. It makes us energized in the morning and showed linked to a decreased risk of type 2 diabetes, Parkinson’s and Alzheimer’s diseases, and tea drinking has been linked to a lower risk for some cancers. Too much caffeine can also have negative effects. Some people become jittery after drinking a single cup of coffee, while others can drink several cups of strong coffee Part of that variability and not wake up a bit. Is it genetics? Is it adaptation to caffeine? We know caffeine is primarily metabolized by the liver enzyme cytochrome P450 1A2 (CYP1A2). Our goal is to produce a PCR product for accurate sequencing of the targeted sequence in the small population. An accurate single Nucleotide Polymorphisms (SNPs) for each subject will be achieved. We will be looking for a SNP in an intron of DNA for CYP1A2. This SNP (rs762551) has been linked to how fast CYP1A2 metabolizes caffeine in those of each ethnic group.