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CYP2C19
cytochrome P450 family 2 subfamily C member 19
The CYP2C19 gene provides instructions for an enzyme primarily responsible for metabolising numerous commonly prescribed drugs, influencing their effectiveness and safety. The CYP2C19 gene belongs to the cytochrome P450 family, which encodes enzymes crucial for breaking down various molecules, including medicines, within the body.
CYP2C19 is located on the long (q) arm of chromosome 10, at band 10q23.33. Arm ratio per GRCh38 - banding schematic.
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Overview
The CYP2C19 gene, or cytochrome P450 family 2 subfamily C member 19, is a critical component of the body's detoxification system. It encodes an enzyme that plays a central role in drug metabolism, particularly influencing how individuals process many pharmaceutical compounds. Genetic differences within CYP2C19 can lead to varying enzyme activity levels, which in turn affects how quickly certain drugs are broken down or activated in the body.
Understanding CYP2C19 variations is essential for pharmacogenomics, the study of how genes affect a person's response to drugs. This enzyme is involved in metabolising a significant proportion of commonly prescribed medications, making it a key factor in predicting drug efficacy and potential side effects for patients.
What the gene does
The CYP2C19 gene directs the production of an enzyme found predominantly in liver cells within a structure called the endoplasmic reticulum. This enzyme is a member of the cytochrome P450 family, a group of proteins involved in the metabolism of various endogenous compounds and external substances, including a wide array of medications.
The CYP2C19 enzyme is particularly important for processing at least 10% of commonly used prescription drugs. One notable example is the antiplatelet drug clopidogrel, which works by preventing blood platelets from aggregating and forming clots. The CYP2C19 enzyme converts clopidogrel into its active form, which is necessary for the drug to inhibit the P2RY12 receptor protein on platelet surfaces. Without effective activation by the CYP2C19 enzyme, clopidogrel may not function adequately to prevent clot formation. Variations in the CYP2C19 gene can therefore impact the body's ability to activate or break down many other drugs, including certain proton pump inhibitors used for stomach ulcers.
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Chromosome location
The CYP2C19 gene is situated on the long (q) arm of chromosome 10, specifically at position 10q23.33. This chromosomal location defines where the gene is found within the human genome. Being part of the cytochrome P450 family, CYP2C19 is often found in genomic regions containing other P450 genes, reflecting their related functions in metabolism.
Protein structure
The CYP2C19 protein consists of 490 amino acids. Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variations, or polymorphisms, within the CYP2C19 gene are common and can significantly alter the enzyme's activity. These variations can lead to a spectrum of metabolic capacities, ranging from individuals who are ultra-rapid metabolizers to those who are poor metabolizers. The impact of these variants is primarily observed in how the body processes medications, affecting drug activation, detoxification, and elimination rates. Understanding an individual's CYP2C19 genetic profile can provide insights into their likely response to certain drug therapies.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Variations in the CYP2C19 gene are associated with altered responses to a range of medications, rather than specific inherited conditions. A prominent association is with clopidogrel resistance, a situation where the antiplatelet medication clopidogrel is less effective than usual. This occurs because certain CYP2C19 polymorphisms reduce the enzyme's capacity to convert clopidogrel into its active form. Beyond clopidogrel, the enzyme's broad role in drug metabolism means that CYP2C19 polymorphisms can also influence the effectiveness and side effect profiles of other medications, including various antidepressants and proton pump inhibitors.
No disease links recorded for this gene in our reference set.
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Diet & lifestyle considerations
Research suggests that lifestyle factors generally have a limited direct impact on the inherent activity of the CYP2C19 enzyme itself, which is primarily determined by genetic variations. However, overall liver health, which can be influenced by diet and alcohol consumption, is crucial for optimal function of all liver enzymes, including CYP2C19. Maintaining a balanced diet and limiting alcohol intake supports general liver function. Certain foods or herbal remedies can sometimes act as inhibitors or inducers of cytochrome P450 enzymes, though their specific interactions with CYP2C19 can be complex and are not universally established.
Supplement considerations
There is no conclusive evidence that specific supplements can prevent conditions associated with CYP2C19 variations or definitively alter CYP2C19 enzyme activity in a therapeutic manner. Some herbal supplements may interact with cytochrome P450 enzymes, potentially affecting drug metabolism, but these interactions are often complex and can vary. It is important to discuss any supplements with a healthcare provider, especially if taking medications that are metabolised by CYP2C19, as potential interactions could affect drug effectiveness or lead to adverse effects.
Frequently asked questions
What does the CYP2C19 gene do?
The CYP2C19 gene provides instructions for making an enzyme found mainly in the liver. This enzyme is vital for metabolising many medications, meaning it helps to activate or break down drugs in the body.
Why is CYP2C19 important for medications?
The CYP2C19 enzyme processes at least 10% of commonly prescribed drugs, including blood thinners like clopidogrel and certain stomach ulcer treatments. Genetic variations influence how quickly and effectively these drugs are processed, which can affect their efficacy and potential side effects.
What is clopidogrel resistance?
Clopidogrel resistance occurs when the drug clopidogrel is less effective than usual in preventing blood clots. This is often due to variations in the CYP2C19 gene that reduce the enzyme's ability to convert clopidogrel into its active form.
Can my CYP2C19 genotype affect other drugs?
Yes, because the CYP2C19 enzyme is involved in metabolising a wide range of drugs, genetic variations can impact how your body processes other medications, such as some antidepressants and proton pump inhibitors.
Where is the CYP2C19 gene located?
The CYP2C19 gene is located on chromosome 10, specifically at position 10q23.33. This means it is found on the long arm of the tenth human chromosome.
References
- Hirota T, Eguchi S, Ieiri I. Impact of genetic polymorphisms in CYP2C9 and CYP2C19 on the pharmacokinetics of clinically used drugs. Drug metabolism and pharmacokinetics. 2013. PMID: 23165865
- Scott SA, Sangkuhl K, Stein CM. Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. Clinical pharmacology and therapeutics. 2013. PMID: 23698643
- Scott SA, Sangkuhl K, Shuldiner AR. PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 19. Pharmacogenetics and genomics. 2012. PMID: 22027650
- Uppugunduri CR, Daali Y, Desmeules J. Transcriptional regulation of CYP2C19 and its role in altered enzyme activity. Current drug metabolism. 2012. PMID: 22804232
- Society for Cardiovascular Angiography and Interventions, Society of Thoracic Surgeons, Writing Committee Members. ACCF/AHA Clopidogrel clinical alert: approaches to the FDA "boxed warning": a report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the American Heart Association. Circulation. 2010. PMID: 20585015