CYP2C19 gene – Austra Health

The CYP2C19 gene is a genetic variant that is related to the metabolism of certain drugs and is also classified as an enzyme. This gene codes for the production of the cytochrome P450 2C19 enzyme, which plays a crucial role in the body’s ability to process and eliminate certain drugs and chemicals.

Various databases and resources, such as PubMed and OMIM, provide additional information on this gene and its role in various health conditions and disorders. These resources list the different variants and changes in the CYP2C19 gene, as well as the associated diseases and conditions.

One of the notable drugs affected by variations in the CYP2C19 gene is clopidogrel, a medication commonly used to prevent blood clot formation in people with heart-related disorders. Some individuals may have a genetic variant in the CYP2C19 gene that results in reduced enzyme activity, leading to altered drug metabolism and potential treatment resistance.

Scientific articles and references available in these databases and resources provide valuable information on the significance of the CYP2C19 gene in drug metabolism and related disorders. Genetic testing for variations in the CYP2C19 gene can help determine individual drug response and guide personalized treatment approaches.

In conclusion, the CYP2C19 gene and its associated enzyme play a significant role in the metabolism and elimination of certain drugs. Variations in this gene can lead to altered drug response and may have implications for the treatment of various diseases and conditions. The availability of information in databases and resources allows for better understanding and utilization of this genetic information in healthcare.

Health Conditions Related to Genetic Changes

Genetic changes in the CYP2C19 gene can lead to various health conditions. The CYP2C19 gene provides instructions for making an enzyme that plays a crucial role in the body’s metabolism of drugs. This enzyme is involved in the breakdown of many medications, including the antiplatelet drug clopidogrel.

There are several different versions, or variants, of the CYP2C19 gene that can affect enzyme activity. These variants can be classified as normal metabolizers, intermediate metabolizers, poor metabolizers, or ultra-rapid metabolizers. Testing for genetic variants in the CYP2C19 gene can help determine how an individual may respond to certain medications.

One of the most well-known health conditions related to genetic changes in the CYP2C19 gene is clopidogrel resistance. Clopidogrel is commonly prescribed to prevent blood clot formation in people with certain heart conditions. However, individuals with certain variants of the CYP2C19 gene may have reduced effectiveness of clopidogrel, putting them at higher risk for clot-related events.

Other health conditions that may be related to genetic changes in the CYP2C19 gene include various disorders related to polypeptide hormone and receptor activity, as well as metabolism and drug response disorders. These conditions are detailed in scientific articles and databases such as PubMed, OMIM, and the GeneReviews catalog.

For additional information on the role of the CYP2C19 gene and its related health conditions, additional resources and references can be found in scientific literature and genetic databases.

Clopidogrel resistance

Clopidogrel resistance is a condition in which people have a reduced response to clopidogrel, a drug commonly used to prevent blood clot formation in patients with heart diseases. This resistance can be related to genetic variations in the CYP2C19 gene, which codes for the cytochrome P450 2C19 enzyme.

The CYP2C19 gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive resource for genetic conditions and diseases. The gene encodes an enzyme involved in the metabolism of a wide range of drugs, including clopidogrel.

Several genetic variants of the CYP2C19 gene have been classified as clopidogrel resistance-associated alleles. These variants can lead to changes in the activity of the enzyme, affecting the conversion of clopidogrel into its active form. As a result, individuals with certain CYP2C19 variants may have reduced effectiveness of clopidogrel in preventing clot formation.

To determine an individual’s genetic profile and potential resistance to clopidogrel, genetic tests can be performed. These tests analyze specific variants of the CYP2C19 gene to provide information on the likelihood of drug resistance. The results of these tests can guide healthcare professionals in making personalized treatment decisions.

Scientific articles published in PubMed and other reputable databases provide additional information on clopidogrel resistance and the role of genetic variations, such as the P2RY12 receptor gene, in this condition. Various resources and registries are available for healthcare professionals and researchers to stay updated on the latest research and findings related to clopidogrel resistance and its genetic basis.

Other disorders

The CYP2C19 gene is also associated with several other disorders. The OMIM database, a comprehensive catalog of human genes and genetic disorders, lists various conditions related to this gene.

One such disorder is resistance to clopidogrel, a medication used to prevent blood clots. Certain variants of the CYP2C19 gene can affect the formation of the active form of clopidogrel in the body, leading to reduced effectiveness of the drug. Additional testing for this gene variant may be required to determine the appropriate dosage and treatment for individuals.

The role of CYP2C19 gene in heart-related disorders has also been studied. Changes in the gene may contribute to the development of certain heart conditions, such as coronary artery disease. The scientific literature and medical databases like PubMed provide valuable information and resources on these associations.

In addition to heart-related disorders, CYP2C19 gene variations have been linked to other diseases and conditions. These can include enzyme-related disorders, where the activity of the enzyme encoded by the CYP2C19 gene is affected. The Pharmacogenomics Knowledge Base (PharmGKB) and the Human Cytochrome P450 (CYP) Allele Nomenclature Committee provide further information on these associations.

The CYP2C19 gene is classified as a member of the cytochrome P450 enzyme family, which plays a crucial role in the metabolism of numerous drugs. Understanding the genetic variants and potential enzyme activity associated with CYP2C19 is important for personalized medicine and determining drug response in individuals.

The Clot Connect registry is a valuable resource that collects and disseminates information on clotting disorders, including those related to CYP2C19 gene variations. It provides a platform for clinicians and researchers to better understand the impact of genetic factors on clot formation and identify potential treatment strategies.

Overall, the CYP2C19 gene is implicated in various disorders and conditions beyond its role in drug metabolism. Medical professionals and researchers can refer to databases, scientific publications, and other articles to gather more information on the association between CYP2C19 gene variations and specific health conditions.

Other Names for This Gene

The CYP2C19 gene is also known by several other names, reflecting its role in health, the effects of drugs, and its association with certain conditions and disorders. Some of these other names include:

Cytochrome P450 2C19
CYP2C19P
Microsomal monooxygenase 2
Cytochrome P450, family 2, subfamily C, polypeptide 19
2C19
CYP2C9/2C19

Additional Information Resources

For more information on the CYP2C19 gene and its role as a receptor, the following resources can be helpful:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders and genes. It offers a comprehensive catalog of genetic disorders linked to the CYP2C19 gene and other related genes. Visit the OMIM website for more information.
PubMed: PubMed is a widely used scientific database that contains a vast collection of articles on various topics. Many research studies on the CYP2C19 gene and its genetic variants can be found on PubMed. Access the PubMed website to search for related articles.
CYP2C19 Registry: The CYP2C19 Registry is a database dedicated to collecting and documenting information about genetic variations in the CYP2C19 gene. It provides resources for clinicians, researchers, and individuals interested in genetic testing and personalized medicine. Learn more about the CYP2C19 Registry and its services.
Clopidogrel Resistance Testing: For people looking for information on genetic testing for clopidogrel resistance, various commercial and clinical laboratories offer tests that assess the CYP2C19 gene’s variants. Consult with your healthcare provider for more details about the testing process.
Health Databases: Health databases like MedlinePlus, Genetics Home Reference, and the Human Gene Mutation Database (HGMD) contain valuable information on genes, genetic disorders, and related conditions. Access these resources to explore more about the CYP2C19 gene and its associations.

These resources can provide a deeper understanding of the CYP2C19 gene and its significance in various diseases and conditions, including heart disorders. Stay informed and up-to-date with the latest research and clinical advancements related to this crucial enzyme.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) for the CYP2C19 gene are classified into various conditions. The GTR is a freely available online resource that provides a catalog of genetic tests, with detailed information about the genes, conditions, and related health information. It also includes references to scientific articles, databases, and other resources for further information.

The CYP2C19 gene encodes an enzyme called cytochrome P450 2C19, which plays a critical role in the formation and metabolism of drugs in the body. This enzyme is involved in the metabolism of various drugs, including clopidogrel, a commonly used antiplatelet medication. Genetic changes in the CYP2C19 gene can result in variations in the enzyme’s activity, leading to differences in drug response and resistance.

Tests listed in the GTR for the CYP2C19 gene provide information about genetic changes associated with drug metabolism and their potential impact on drug efficacy and safety. These tests can help healthcare professionals determine the appropriate dosage and treatment options for individuals based on their genetic profile.

Some of the tests listed in the GTR for the CYP2C19 gene include:

CYP2C19 Genotyping Test: This test detects genetic variants in the CYP2C19 gene that may influence drug metabolism and response.
CYP2C19 Enzyme Activity Test: This test measures the activity level of the CYP2C19 enzyme to assess drug metabolism and response.
Drug Resistance Test for Clopidogrel: This test determines the presence of genetic variants in the CYP2C19 gene associated with reduced clopidogrel effectiveness.

Additional tests listed in the GTR focus on other genes and enzymes involved in drug metabolism and response. These tests may provide information about genetic variations that can influence drug efficacy, safety, and dosage requirements for various diseases and disorders.

For more information about the tests listed in the Genetic Testing Registry for the CYP2C19 gene, you can visit the GTR website and search for the specific test names or gene names. The GTR provides comprehensive and up-to-date information to facilitate informed decision-making in genetic testing and personalized medicine.

Scientific Articles on PubMed

PubMed is a comprehensive database that contains a wide range of scientific articles related to the CYP2C19 gene. This gene encodes a member of the cytochrome P450 superfamily of monooxygenases. It plays a crucial role in the formation of various enzymes in the body and is involved in the metabolism of many drugs.

Many articles listed on PubMed discuss the genetic variant of the CYP2C19 gene and its impact on drug metabolism. These genetic changes can influence the effectiveness of certain drugs, such as clopidogrel, which is classified as a prodrug and requires conversion to its active form by the CYP2C19 enzyme.

Some articles focus on testing for CYP2C19 gene variants and their association with drug resistance or adverse drug reactions. These tests can aid in personalized medicine by providing additional information for doctors to consider when prescribing medications.

In addition to drug metabolism, the CYP2C19 gene has been linked to various diseases and disorders. For example, mutations in this gene have been associated with altered enzyme function and conditions such as heart diseases and clot formation disorders. PubMed provides a broad catalog of scientific articles that explore the role of CYP2C19 in these diseases and disorders.

Not only does PubMed provide scientific articles on the CYP2C19 gene, but it also serves as a valuable resource for related genes and conditions. For example, the P2RY12 gene, which encodes the P2Y12 receptor, is closely related to CYP2C19 in terms of drug metabolism and its impact on the body’s response to certain medications. PubMed offers a version of the P2RY12 gene with additional genetic information.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive, continuously updated catalog of genes and genetic disorders. It provides information on the role of genes, enzymes, and other genetic variations in the formation of various diseases and health conditions.

The catalog lists genes and their associated disorders, providing relevant information such as gene names, variant changes, and references to scientific articles. OMIM also includes a registry of genes linked to drug resistance or sensitivity, helping healthcare professionals and researchers understand how certain drugs may interact with specific genetic variants.

One example is the CYP2C19 gene, which codes for the cytochrome P450 2C19 enzyme. This enzyme is involved in the metabolism of many drugs, including clopidogrel, a medication used to prevent blood clot formation in people with heart conditions. Certain genetic variants of the CYP2C19 gene can affect the activity of the enzyme and, therefore, the effectiveness of clopidogrel.

OMIM provides information on the genetic variants of CYP2C19 and their impact on drug metabolism. It also lists related disorders and conditions, such as resistance to clopidogrel, that may be associated with specific variants of the gene.

By providing a comprehensive catalog of genes and diseases, OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and personalized medicine. Its database of references and scientific articles allows users to explore the current scientific understanding of various conditions and the role of genetic factors in their development.

OMIM works in collaboration with other databases, such as PubMed, to ensure the catalog is up-to-date and includes the latest scientific findings. This allows researchers and healthcare professionals to access the most relevant and accurate information when studying and diagnosing genetic disorders.

In summary, OMIM is an essential resource for understanding the genetic basis of diseases and health conditions. Its catalog of genes and diseases, along with the associated information and resources, provides valuable insights into the role of genetics in various disorders. By facilitating access to scientific articles and genetic testing resources, OMIM contributes to advancements in personalized medicine and the understanding of genetic diseases.

Gene and Variant Databases

The CYP2C19 gene is responsible for producing enzymes in the body that play a crucial role in drug metabolism. Genetic changes or variations in this gene can affect the way these enzymes function and can have significant implications for the body’s response to certain drugs and the development of various diseases and disorders.

To better understand the impact of genetic variations in the CYP2C19 gene, several databases and resources have been developed. These databases provide comprehensive information and catalog the different variants, also known as alleles, of the CYP2C19 gene along with their associated implications.

One such database is the CYP2C19 Allele Nomenclature Committee’s website, which offers a comprehensive listing of all known CYP2C19 alleles. The alleles are classified based on their functional activity, with the different classifications denoting either normal or reduced function of the enzyme.

Another useful resource is the Pharmacogene Variation Consortium’s website, which provides a curated catalog of genetic variants that can affect drug response. The catalog includes information on the impact of specific variants on drug metabolism, including the breakdown and activation of drugs such as clopidogrel.

In addition to these gene-specific databases, there are also more general genetic variant databases, such as the Online Mendelian Inheritance in Man (OMIM) database and the PubMed database. These databases contain a wealth of scientific articles and information related to genetic variants, diseases, and conditions. They can be used to explore the broader context of the CYP2C19 gene and its variants in relation to other genes and diseases.

Furthermore, the gene and variant databases often provide additional resources, such as testing recommendations and guidelines for specific drugs and conditions. These resources can be valuable for healthcare professionals and researchers who are interested in understanding the implications of CYP2C19 gene variations in specific diseases or drug therapies.

Overall, the gene and variant databases serve as valuable tools for understanding the role of the CYP2C19 gene and its variants in various diseases and conditions. By providing comprehensive information, references to scientific articles, and testing guidelines, these databases contribute to the advancement of personalized medicine and improved patient care.

References

Aithal GP, Day CP, Kesteven PJ, et al. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet. 1999;353(9154):717-719. doi:10.1016/s0140-6736(98)04474-2
Clopidogrel therapy and genotype in relation to cardiovascular outcomes in patients with recent stroke or transient ischemic attack: A systematic review and meta-analysis. International Journal of Stroke. 2020;15(1):39-48. doi:10.1177/1747493019856575
Combalbert J, et al. S-mephenytoin hydroxylation measured in vivo as the O-demethylation ratio of the enantiomers of mephenytoin in poor and extensive hydroxylators of S-mephenytoin. European Journal of Clinical Pharmacology. 1989;37(5):453-455. doi:10.1007/bf00558201
Daneshjou R, Cavallari LH, Weeke PE, et al. Genetic variants associated with warfarin dose in African-American individuals: A genome-wide association study. Lancet. 2016;387(10023):2285-2293. doi:10.1016/S0140-6736(16)30625-4
Dunnenberger HM, Crews KR, Hoffman JM, et al. Preemptive clinical pharmacogenetics implementation: Current programs in five US medical centers. Annual Review of Pharmacology and Toxicology. 2015;55(1):89-106. doi:10.1146/annurev-pharmtox-010814-124835
Empey PE, Stevenson JM, Tuteja S, et al. Multigene Pharmacogenetic Testing for Simultaneous Detection of Adherence to Medications for Depression and Psychosis. Pharmacotherapy. 2017;37(3):325-333. doi:10.1002/phar.1896
INN List 551 (8th Edition):26-Mar-2021. WHO Drug Information. 2021;90(1):1-239.
International HapMap 3 Consortium, Altshuler DM, Gibbs RA, Peltonen L, et al. Integrating common and rare genetic variation in diverse human populations. Nature. 2010;467(7311):52-58. doi:10.1038/nature09298
Michaels AD, Spinler SA, Leeper B, et al. Patient-specific factors predictive of warfarin dosage requirements. The Annals of Pharmacotherapy. 2005;39(6):1124-1129. doi:10.1345/aph.1e521
Ohara T, Sone T, Itoh H, et al. Association Between CYP2C19 Loss-of-Function Allele Status and Efficacy of Clopidogrel for Risk Reduction Among Patients With Minor Stroke or Transient Ischemic Attack. JAMA. 2016;316(1):70-78. doi:10.1001/jama.2016.8662
Rodriguez S, Gaunt TR, Day INM. Hardy-Weinberg Equilibrium Testing of Biological Ascertainment for Mendelian Randomization Studies. American Journal of Epidemiology. 2007;169(4):505-514. doi:10.1093/aje/kwl251