Do you drink coffee, tea, sodas or eat sweets such as chocolate? Do you consume "energy" drinks? These drinks and candies contain caffeine. While there may be some benefits associated with moderate caffeine consumption, research has documented that individuals with certain genetic variants are at increased risk of health problems when they consume caffeine. Specifically, people with a particular variant in a cytochrome P450 gene (CYP1A2) may have an increased risk of developing hypertension, non-fatal myocardial infarction (MI; heart attack) or recurrent pregnancy loss, depending on levels of caffeine consumption. By testing for this variant of the CYP1A2 gene, you will learn whether you are a fast or slow metabolizer of caffeine. Slow metabolizers of caffeine may be able to reduce their risk of future health problems by modifying their intake of caffeine.
Cytochrome P450s are a family of proteins, produced primarily in the liver, that metabolize certain chemicals and drugs. The cytochrome P450 1A2 is encoded by the CYP1A2 gene, and this protein is known to metabolize 95% ingested caffeine. This means the enzyme converts (degrades) caffeine to other chemicals in the liver, which are then eliminatd from from your system.
There is a DNA sequence change in the CYP1A2 gene that is fairly common, with approximately 50% of the general population carrying at least one copy of the variant allele. This variant results in slower metabolism of caffeine which means, if you are a carrier, that ingested caffeine remains in your system longer. Individuals with a variant CYP1A2 gene can have either one (heterozygous) or two (homozygous) copies, and individuals who are homozygous for the variant allele are the slowest metabolizers of caffeine. When you undergo testing with Genomic Express, you will learn whether you are heterozygous, homozygous or do not carry this variant form of the CYP1A2 gene.
Your CYP1A2 genotype (heterozygous, homozygous, or non-carrier of the variant) has implications for your health with respect to your level of caffeine consumption. There is an association between CYP1A2 genotype, caffeine consumption and non-fatal myocardial infarction (MI; heart attack). Individuals who are slow metabolizers of caffeine may increase their risk of MI when they consume caffeine. There is also evidence that pregnant women who are homozygous for this CYP1A2 variant are at increased risk of misscarriage due to caffeine consumption. Other studies have indicated that slow metabolizers are also at increased risk of developing hypertension (high blood pressure) if they consume caffeine.
Cornelis, M.C., et al. (2006) Coffee, CYP1A2 Genotype, and Risk of Myocardial Infarction. Journal of the American Medical Association 295 (10), 1135-1141.
Sata, F., et al. (2005) Caffeine Intake, CYP1A2 Polymorphism and the Risk of Recurrent Pregnancy Loss. Molecular Human Reproduction 11 (5), 357-360.
Palatini, I., et al.(2009) CYP1A2 genotype modifies the association between coffee intake and the risk of hypertension. J. Hypertens. 27(8), 1594-1601.
This genetic test is provided by Genomic Express, Inc. for educational and informational purposes only. It is not intended for the diagnosis or treatment of any diseases or disorders. Clients should consult with their own physician or other qualified health care provider for any medical or health needs. Genomic Express, Inc. shall not be held liable for any damages incurred as a result of the use of this information or caused by products described herein.