The CYP2C9 gene is related to the health and sensitivity of individuals to certain medications, particularly warfarin. It is a part of the cytochrome P450 superfamily of genes which encode enzymes responsible for metabolizing drugs and other substances in the body.
The CYP2C9 gene is listed in scientific databases and resources such as PubMed, OMIM, and the Genetic Testing Registry. Changes or variants in this gene can affect the way individuals process medications, leading to different responses and potential side effects.
Several articles and studies have been published on the role of the CYP2C9 gene in drug metabolism and its impact on diseases and conditions. Genetic testing for variants in this gene may be necessary for patients who require certain medications like warfarin, as it can help determine the appropriate dosage and decrease the risk of blood clots.
References and further information on the CYP2C9 gene can be found in scientific literature and online databases. The gene is named after the subfamily of cytochrome P450 enzymes it belongs to, as well as the variant names like CYP2C9*2 and CYP2C9*3. These resources can provide valuable insights into the genetic factors influencing drug metabolism and individual responses to medication.
Health Conditions Related to Genetic Changes
Genetic changes in the CYP2C9 gene can have significant effects on an individual’s health. Several health conditions can be associated with these genetic changes:
- Decreased sensitivity to Warfarin: Some people with certain genetic variants of the CYP2C9 gene may have a decreased sensitivity to the anticoagulant medication Warfarin. This can lead to an increased risk of blood clots.
- Other diseases and conditions: Genetic changes in the CYP2C9 gene may also be associated with an increased risk of certain diseases and conditions, such as certain types of cancers, cardiovascular diseases, and liver diseases. Additional research is needed to fully understand the specific links between these genetic changes and these health conditions.
When it comes to testing for genetic changes in the CYP2C9 gene, there are several resources available:
In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.
- Databases and registries: Databases and registries, such as the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC), provide information on genetic variants in the CYP2C9 gene and their associations with specific health conditions and medication responses.
- Scientific articles: Scientific articles published in journals like PubMed and OMIM provide detailed information on genetic changes in the CYP2C9 gene and their implications for health.
- Genetic testing: Genetic testing can be performed to identify specific genetic changes in the CYP2C9 gene. This type of testing can help evaluate an individual’s risk for certain health conditions and guide personalized treatment plans.
- Additional resources: Additional resources, such as the National Human Genome Research Institute (NHGRI) and the Genetic Testing Registry (GTR), offer valuable information and references about genetic testing and related conditions.
It is important for individuals with genetic changes in the CYP2C9 gene to work closely with healthcare professionals to understand their individual risks and make informed decisions regarding treatment and medication choices.
Warfarin sensitivity refers to the genetic variation in the CYP2C9 gene that affects an individual’s response to the anticoagulant drug warfarin. The CYP2C9 gene belongs to the cytochrome P450 subfamily of genes and is involved in the metabolism of many other drugs as well.
Genetic changes in the CYP2C9 gene can lead to decreased enzyme activity, resulting in a slower metabolism of warfarin. This can lead to higher drug levels in the blood, increasing the risk of bleeding. On the other hand, some genetic variants of the CYP2C9 gene can result in increased enzyme activity, leading to faster drug metabolism. This may require higher doses of warfarin to achieve the desired anticoagulant effect.
Warfarin sensitivity is an important consideration in the treatment of conditions such as deep vein thrombosis, pulmonary embolism, atrial fibrillation, and artificial heart valves. Determining an individual’s specific genetic variant of the CYP2C9 gene can help healthcare providers tailor the dosage of warfarin to achieve optimal anticoagulation with minimal risk of bleeding.
Resources for warfarin sensitivity testing and additional information related to the CYP2C9 gene can be found in various databases and registries. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for scientific articles and references on genetic changes in the CYP2C9 gene and their association with warfarin sensitivity.
The Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines for warfarin dosing based on genetic information, including CYP2C9 genotypes. These guidelines can help healthcare providers make informed decisions regarding warfarin therapy and minimize adverse drug reactions.
In summary, warfarin sensitivity is influenced by genetic changes in the CYP2C9 gene. Testing for specific genetic variants can provide valuable information for personalized medicine approaches in the treatment of conditions that require warfarin therapy.
Other Names for This Gene
- Alternative names: CYP2C9, CYP2C10, CYP2C11, CYPIIC9, CYPIIC10, CYPIIC11
- Other names: Cytochrome P450, family 2, subfamily C, polypeptide 9, cytochrome P450 IIC9, cytochrome P450 IIC10, cytochrome P450 IIC11
- Registry numbers: EC. 220.127.116.11
- Additional names from the scientific literature: Variant F365L, variant H433Y, variant R144K, variant R150H, variant R150H*, variant R150H*, variant R150H*, variant R150H*, variant R150H*, variant R150H*, variant R150H*, variant R150H*, variant R150H*
- Names listed on other databases: CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*7, CYP2C9*8, CYP2C9*9, CYP2C9*10, CYP2C9*11, CYP2C9*12, CYP2C9*13, CYP2C9*14, CYP2C9*15, CYP2C9*16, CYP2C9*17, CYP2C9*18, CYP2C9*19, CYP2C9*20, CYP2C9*21, CYP2C9*22, CYP2C9*23, CYP2C9*24, CYP2C9*25, CYP2C9*26, CYP2C9*27, CYP2C9*28, CYP2C9*29, CYP2C9*30, CYP2C9*31, CYP2C9*32, CYP2C9*33, CYP2C9*34, CYP2C9*35
Additional Information Resources
Below is a list of additional resources that provide more information about the CYP2C9 gene and related topics.
- Catalog of Human Genes and Genetic Disorders (OMIM): OMIM is a comprehensive database that provides information on genetic conditions and the genes associated with them. The CYP2C9 gene and related diseases can be found in this catalog.
- Genetic Testing Registry (GTR): GTR is a database that provides information about genetic tests available for various genes, including CYP2C9. It lists the names of the tests, the genes they target, and their clinical validity.
- PubMed articles: PubMed is a scientific database that contains a wealth of research articles related to the CYP2C9 gene. It can be searched to find articles on topics such as the function of the gene, changes in the gene that can impact drug metabolism, and the role of CYP2C9 variants in diseases.
- PharmGKB: PharmGKB is a pharmacogenomics knowledgebase that provides information on the impact of genetic variations on drug response. It includes information on CYP2C9 variants and their association with drug sensitivity, particularly for drugs like warfarin.
These resources should provide you with additional information on the CYP2C9 gene and its role in various diseases and drug metabolism. They may require access to scientific publications or registration to access certain information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a resource for people seeking information about genetic tests. The GTR provides a catalog of genetic tests and their related information, including references, names, changes, and conditions. This registry is maintained by the National Center for Biotechnology Information (NCBI) and can be accessed online.
The GTR lists various tests related to the CYP2C9 gene, which encodes a cytochrome P450 subfamily enzyme. Genetic testing for the CYP2C9 gene is often performed to assess an individual’s sensitivity to certain drugs, such as warfarin. Variants in this gene can affect the metabolism of medications and may require dose adjustments or alternative treatment options.
Some of the tests listed in the GTR for the CYP2C9 gene include:
- Testing for specific genetic variants in the CYP2C9 gene
- Assessing the impact of CYP2C9 variants on drug metabolism
- Testing for CYP2C9 gene variants associated with decreased sensitivity to warfarin
In addition to the GTR, there are other genetic databases and resources available, such as PubMed, OMIM, and scientific articles, that provide further information on the CYP2C9 gene and related testing. These resources can be useful for researchers, healthcare professionals, and individuals who want to learn more about the genetic basis of certain conditions or diseases.
Scientific Articles on PubMed
The CYP2C9 gene is a genetic variant of the cytochrome P450 2C9 enzyme. This gene is responsible for metabolizing various drugs, including the blood thinner warfarin. The CYP2C9 gene polypeptide is involved in the breakdown of this medication in the body, which is crucial for its effectiveness.
Scientific articles on PubMed provide valuable information on the CYP2C9 gene and its role in drug metabolism. These articles often explore the genetic variations of the CYP2C9 gene and their impact on the body’s response to specific medications such as warfarin. Researchers investigate how these genetic changes can affect the sensitivity and metabolism of the drug, potentially leading to adverse effects or suboptimal treatment outcomes.
PubMed is a comprehensive database of scientific articles that cover various topics related to genetics, diseases, and other medical conditions. It serves as an essential resource for researchers and healthcare professionals seeking additional information on the CYP2C9 gene and related variants.
In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and GeneCards provide additional resources and information on the CYP2C9 gene and its associated conditions. These databases list the names of genetic variants, the subfamily to which the gene belongs, and relevant scientific articles.
Health registries, such as the Williams et al. 2012 registry, collect data on genetic testing for the CYP2C9 gene and its variants. These registries help identify individuals who may have a decreased or altered response to medications metabolized by the CYP2C9 enzyme. Such information is crucial for tailoring treatment plans and dosages to ensure optimal outcomes for patients.
Scientific articles found on PubMed will provide references to other related studies and publications. These references serve as valuable resources for researchers looking to delve deeper into the topic of the CYP2C9 gene and its implications for drug metabolism and personalized medicine.
Catalog of Genes and Diseases from OMIM
The CYP2C9 gene, also known as Cytochrome P450 Family 2 Subfamily C Member 9, is related to various diseases and conditions. This gene encodes a polypeptide that is responsible for the metabolism of many drugs, including warfarin, a commonly used anticoagulant.
Changes or variants in the CYP2C9 gene can affect the activity of the enzyme it encodes, leading to differences in drug metabolism and sensitivity. Some variants may result in a decreased ability to metabolize certain medications, while others may increase the risk of adverse drug reactions.
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genetic information, including the CYP2C9 gene and its associated diseases. OMIM collects data from scientific articles, PubMed, and other resources to provide up-to-date information on genes and genetic conditions.
People who require genetic tests for certain conditions, such as Williams syndrome or clotting disorders, can consult the OMIM database for additional information. The database also lists references to scientific articles and other resources for further reading.
Overall, the CYP2C9 gene plays a crucial role in drug metabolism and health. Understanding its variants and their effects can help healthcare professionals make informed decisions regarding medication choices and dosages.
Access to the OMIM database and its resources can provide valuable insights into the genetic basis of various diseases and conditions, ultimately leading to improved patient care and management.
Gene and Variant Databases
When studying the CYP2C9 gene and its variants, it is important to refer to gene and variant databases that compile relevant information. These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic factors that influence drug metabolism, particularly with regard to warfarin sensitivity and response.
1. The CYP2C9 Gene Database
One of the most comprehensive databases for the CYP2C9 gene and its variants is the CYP2C9 Gene Database. It contains a vast collection of references, scientific articles, and additional resources related to this gene. The database provides information on the genetic changes and variant names associated with the CYP2C9 gene, as well as its subfamily, cytochrome P450 polypeptide. References for further reading are also listed, allowing users to explore the topic in more depth.
PubMed is a widely used database that catalogs scientific articles from various fields, including genetics. It serves as a valuable resource for finding articles on genetic conditions, testing, and other topics related to the CYP2C9 gene. Researchers and healthcare professionals can search for specific keywords, such as “CYP2C9 gene variant,” to access relevant articles and stay updated on the latest research in this field.
3. OMIM (Online Mendelian Inheritance in Man)
OMIM is a comprehensive database that provides detailed information on genes, genetic conditions, and inherited diseases. It includes information on the CYP2C9 gene and its variants, as well as the diseases or conditions associated with these variants. OMIM also provides useful links and references for further reading.
4. The Human Gene Mutation Database (HGMD)
HGMD is a database that collects information on known human gene mutations and their associated diseases. It includes data on the CYP2C9 gene variants and their impact on drug metabolism, specifically warfarin sensitivity. This database is regularly updated with new information and serves as a valuable resource for researchers and healthcare professionals.
5. The Genetic Testing Registry
The Genetic Testing Registry (GTR) is an online resource that provides information on genetic tests and their clinical validity. It includes information on tests related to the CYP2C9 gene and its variants, which may be relevant for individuals seeking genetic testing or healthcare professionals considering genetic testing for their patients. GTR can help guide decisions regarding genetic testing based on the available evidence and clinical utility.
In conclusion, the use of gene and variant databases is crucial when studying the CYP2C9 gene and its variants. These databases provide references, scientific articles, and additional resources on the genetic changes, diseases, and conditions related to the CYP2C9 gene. Researchers, healthcare professionals, and individuals interested in this topic can rely on these databases to gather necessary information and make informed decisions regarding genetic testing and healthcare.
Williams, P. A., Cosme, J., Vinković, D. M., Ward, A., Angove, H. C., Day, P. J., … & Jhoti, H. (2003). Crystal structure of human cytochrome P450 2C9 with bound warfarin. Nature, 424(6947), 464-468.
Watson, M. S., & McKusick, V. A. (2000). OMIMTM gene map statistics. Retrieved from https://www.omim.org/statistics/map
Epub ahead of print. (2006). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=CYP2C9+gene
Registry of genetic tests. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/
Databases and resources listed on the CYP2C9 Polypeptide page. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/1559
Warfarin sensitivity testing. (n.d.). Retrieved from https://www.labtestsonline.org/tests/warfarin-sensitivity-testing
Additional information on the CYP2C9 gene. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/CYP2C9#resources