Know Your Genes: CYP1A2 “Coffee Gene”

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The Cytochrome P450 1A2 (CYP1A2) gene is associated with the synthesis of Cytochrome P450 1A2 (CYP1A2), a liver enzyme that is involved in drug metabolism and in the synthesis of steroids, cholesterol and other lipids.

This enzyme is known to metabolize caffeine and is induced by many dietary constituents like cauliflower, cabbages and broccoli, which increase the level of CYP1A2. Though South Indians consume these vegetables, their level of CYP1A2 is low because they cook these vegetables using cumin and turmeric that are known to inhibit CYP1A2.  People with the A variant of the gene are associated with increased activity of the enzyme while people with the C variant are associated with lower activity of the enzyme.

Does your 23andme, Ancestry DNA, FTDNA raw data have CYP1A2 gene variant information?

CHIP Version CYP1A2 SNPs
23andMe (Use your 23andme raw data to know your CYP1A2 Variant)
v1 23andme Present
v2 23andme Present
v3 23andme Present
v4 23andme Present
V5 23andme (current chip) Present
AncestryDNA  (Use your ancestry DNA raw data to know your CYP1A2 Variant)
v1 ancestry DNA Present
V2 ancestry DNA (current chip) Present
Family Tree DNA  (Use your FTDNA raw data to know your CYP1A2 Variant)
OmniExpress microarray chip Present

Association with Caffeine Metabolism:

Most adults consume caffeine, in the form of beverage, supplement or from food sources as it can improve thought process, lower fatigue and improve concentration. This is because caffeine blocks adenosine, known to induce sleep, from binding to its receptor, thereby making the individual feel active. The effect of caffeine, however, is short lived.

People with the A variant of the gene are ‘fast metabolizers’ while people with the C variant are ‘slow metabolizers’.

Association with Cardiovascular Health:

The positive effects of coffee include lowering a feeling of tiredness and increasing alertness, however, coffee is also known to make blood vessels narrow. This increases blood pressure and could lead to cardiovascular disease risk.

In a study conducted on 2014 people, people who were slow metabolizers of caffeine (C variant) and who consumed more than 3 cups of coffee per day were shown to be associated with increased risk for myocardial infarction.  

In a similar study conducted on 513 people, increased intake of coffee, among slow metabolizers, was associated with an increased risk for hypertension.

Association with Smoking, Caffeine metabolism and Hypertension:

Smoking is known to induce CYP1A2 enzyme. In a study conducted on 16719 people, people with the A variant, and who were non-smokers, were 35% less likely to be hypertensive than people with the C variant. In the same study, CYP1A2 activity was negatively associated with blood pressure among ex-smokers but was associated with increased blood pressure when they were still smoking.

Association with Maternal Caffeine intake during Pregnancy:

In a study conducted on 415 Japanese women, people with the A variant who drank more than 300mg of coffee per day were shown to be at an increased risk of giving birth to babies with low birth weight.

 

Genotype

rs762551

Phenotype

Recommendations

AA Fast metabolizer
  • Lower risk of heart disease among people who drink caffeine
CA Slow Metabolizer
  • Should restrict intake of coffee to less than 2 cups per day
CC Slow Metabolizer

References:

  1. https://en.wikipedia.org/wiki/CYP1A2
  2. https://www.ncbi.nlm.nih.gov/pubmed/16522833
  3. https://www.ncbi.nlm.nih.gov/pubmed/19451835
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3346273/

“Nutrigenetics, fitness genetics, health genetics are all nascent but rapidly growing areas within human genetics. The information provided herein is based on preliminary scientific studies and it is to be read and understood in that context.”

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