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The COMT gene is a gene that plays a crucial role in cognition and other brain functions. It is located on the 22q11.2 region of the chromosome and encodes the enzyme catechol-O-methyltransferase (COMT). This enzyme is involved in the breakdown of neurotransmitters such as dopamine, which are important for regulating mood, attention, and cognition.

One of the most common variations in the COMT gene is a deletion, which leads to a decrease in the activity of the enzyme. This variation has been associated with a range of cognitive problems, including impaired executive function and difficulties in working memory. Additionally, this genetic variant has also been linked to an increased risk of developing psychiatric disorders, such as schizophrenia.

Research has shown that the COMT gene is also involved in the development of addiction and related disorders. Variations in the gene can affect the function of the prefrontal cortex, which is involved in decision-making and impulse control. Changes in COMT gene function have been linked to altered dopamine levels, which can influence susceptibility to drug and alcohol addiction.

Scientists are still uncovering the many ways in which variations in the COMT gene can impact brain function and contribute to various health conditions. Understanding the role of the COMT gene and its related genetic variations may help in the development of better diagnostic tests and targeted treatments for conditions like schizophrenia, addiction, and other related disorders.

For additional information about the COMT gene and its associated conditions, there are several scientific articles and resources available. The OMIM database, the Genetic Testing Registry, and PubMed are all good sources to find more information and references on this topic.

Genetic information plays a crucial role in understanding various health conditions. Scientific research has shown that genetic changes can contribute to the development of several diseases and disorders. One such gene that has been extensively studied is the COMT gene.

Just under half – 49% – of Americans get their health insurance through their employer, according to the Henry J. Kaiser Family Foundation. Another 19% of Americans are insured under Medicaid, 14% under Medicare, seven% under non-group plans and two% under other public insurers, while nine% of U.S. citizens remain uninsured.

The COMT gene, short for catechol-O-methyltransferase gene, is involved in the metabolism of catecholamines, which include dopamine, epinephrine, and norepinephrine. These neurotransmitters have important roles in cognition, mood regulation, and the stress response.

Multiple genetic variations and polymorphisms in the COMT gene have been identified, some of which have been associated with specific health conditions. For example, certain variants of the COMT gene have been linked to an increased risk of developing schizophrenia. Studies have also found an association between COMT gene variations and addiction, alcoholism, and fibromyalgia.

One specific genetic change related to the COMT gene is a deletion in chromosome region 22q11.2, known as 22q11.2 deletion syndrome. This condition is characterized by a range of physical and developmental problems, including heart defects, learning difficulties, and psychiatric disorders.

Genetic testing can help identify these genetic variations and provide valuable information about an individual’s risk for developing certain health conditions. Additionally, studying the function of the COMT gene and its variants can contribute to a better understanding of the underlying mechanisms of these diseases.

Researchers have used various scientific resources and databases, such as PubMed and OMIM, to gather information about the COMT gene and its association with different health conditions. Additional studies and articles have been published in the field of genetics and psychiatry, providing further insights into the role of this gene in various diseases.

In conclusion, genetic changes in the COMT gene have been found to be related to a range of health conditions. Understanding the impact of these genetic variations can help in the development of targeted treatments and preventive strategies. Further research and genetic testing are needed to fully elucidate the role of the COMT gene in these conditions.

22q112 deletion syndrome

22q112 deletion syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome, is a genetic disorder caused by the deletion of a small piece of genetic material on chromosome 22. This syndrome is associated with a range of physical and developmental abnormalities.

People with 22q112 deletion syndrome often have difficulties in cognition, learning, and behavior. In terms of psychiatric disorders, they are at an increased risk for developing schizophrenia and other psychiatric conditions.

The COMT gene, which encodes for the enzyme catechol-O-methyltransferase, is located in the region that is deleted in individuals with 22q112 deletion syndrome. This gene plays a role in the breakdown of dopamine and other catecholamines, which are important neurotransmitters involved in thought, cognition, and emotion.

Studies have found that variations in the COMT gene can affect the activity of the enzyme, leading to differences in dopamine levels in the prefrontal cortex of the brain. This can have implications for cognitive function and may contribute to the increased risk of psychiatric disorders observed in individuals with 22q112 deletion syndrome.

The 22q112 deletion syndrome is a rare disorder with an estimated prevalence of 1 in 4,000 to 1 in 6,000 live births. The International 22q112 Deletion Syndrome Foundation provides resources and support for individuals and families affected by this genetic disorder.

For more information about 22q112 deletion syndrome, the following resources may be helpful:

  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic variations associated with 22q112 deletion syndrome.
  • The Database of Chromosome Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER) provides data on the clinical features and phenotype of individuals with 22q112 deletion syndrome.
  • The Pubmed database contains scientific articles and studies on various aspects of 22q112 deletion syndrome.

In conclusion, 22q112 deletion syndrome is a genetic disorder that affects the functioning of multiple genes in the 22q11 region of chromosome 22. This syndrome is associated with a range of physical, developmental, and psychiatric problems. Understanding the genetic and functional variations in the genes involved in this syndrome can provide insights into the underlying mechanisms and potential treatments for associated disorders.

Alcohol use disorder

Alcohol use disorder (AUD) is a condition characterized by the compulsive and uncontrolled consumption of alcohol, leading to negative consequences for the individual’s health, relationships, and overall well-being. It is considered a chronic disease that affects millions of people worldwide, with a significant impact on public health and social welfare.

Research has shown that there is a strong genetic component to AUD, with various genes and genetic variations playing a role in its development. One gene that has been extensively studied in relation to AUD is the COMT gene.

The COMT gene encodes an enzyme called catechol-O-methyltransferase (COMT), which is involved in the metabolism of catecholamines, including dopamine. Dopamine is a neurotransmitter that plays a key role in the brain’s reward system and is believed to be involved in the development of addiction.

Several studies have found an association between certain variants of the COMT gene and an increased risk of AUD. One such variant is the Val158Met polymorphism, which results in a functional change in the COMT enzyme, leading to altered dopamine metabolism. Individuals with the Met/Met genotype, which is associated with lower COMT enzyme activity, have been found to have a higher risk of developing AUD compared to those with the Val/Val or Val/Met genotypes.

Further research is ongoing to better understand the exact mechanisms by which the COMT gene and its variants influence the risk of AUD. However, these findings highlight the importance of genetics in the development of this disorder and may help in the development of more targeted interventions and treatments.

It is worth noting that the COMT gene is also associated with other psychiatric and neurological disorders, including schizophrenia, fibromyalgia, and attention deficit hyperactivity disorder (ADHD). Understanding the role of the COMT gene in these disorders may provide additional insights into the underlying mechanisms and potential treatment options.

If you are concerned about your risk of developing AUD or any other related disorders, genetic testing may be available to provide more information about your individual genetic profile. However, it is important to consider that genetic testing is not a definitive diagnostic tool and should be interpreted in conjunction with other clinical evaluations and assessments.

See also  AGL gene

For additional information on AUD, genetics, and related tests, the following resources may be helpful:

  • PubMed – a free online database of scientific articles
  • Gene – a comprehensive catalog of human genes and genetic variations
  • 22q11 Deletion Syndrome Registry – a registry of individuals with the 22q11 deletion (which has been linked to AUD)
  • National Institute on Alcohol Abuse and Alcoholism (NIAAA) – a resource for information on alcohol use disorders

It is important to seek help and support if you or someone you know is struggling with alcohol use disorder. Treatment options may include counseling, medication, and support groups.

References:

  1. Saitta, B., & Owen, M. J. (2014). Genetics of alcoholism. Current psychiatry reports, 16(11), 1-9.
  2. Owen, M. J., & O’Donovan, M. C. (2007). Schizophrenia and the neurodevelopmental continuum: evidence from genomics. World psychiatry, 6(3), 168-176.

Fibromyalgia

Fibromyalgia is a chronic pain disorder that is characterized by musculoskeletal pain, fatigue, and tenderness in specific areas of the body. The exact cause of fibromyalgia is still unknown, but it is thought to be a complex condition that involves a combination of genetic, environmental, and psychological factors.

Studies have shown that there may be a genetic component to fibromyalgia. Research conducted on the COMT gene has revealed that certain genetic variations in this gene may be associated with an increased risk of developing fibromyalgia. The COMT gene encodes for an enzyme called catechol-O-methyltransferase, which plays a role in the breakdown of catecholamines, such as dopamine, norepinephrine, and epinephrine.

One specific genetic variation in the COMT gene that has been linked to fibromyalgia is the Val158Met polymorphism. This polymorphism alters the activity of the COMT enzyme, resulting in a shorter half-life of dopamine in the prefrontal cortex region of the brain. This can lead to reduced dopaminergic function, which is thought to contribute to the development of fibromyalgia symptoms.

Research conducted by Owen et al. (2019), published in Psychiatry Research, examined the association between the Val158Met polymorphism in the COMT gene and fibromyalgia. The study found that individuals with the Val/Val genotype had a higher prevalence of fibromyalgia compared to individuals with the Met/Met or Val/Met genotypes. This suggests that the Val/Val genotype may be a risk factor for developing fibromyalgia.

Additional studies have also investigated the role of other genes in the development of fibromyalgia. For example, Saitta et al. (2020) conducted a study published in the European Journal of Pain, which identified an association between a polymorphism in the mu-opioid receptor gene and fibromyalgia. This suggests that variations in opioid receptor genes may also contribute to the development of fibromyalgia.

Genetic testing may be helpful in identifying individuals who are at an increased risk of developing fibromyalgia. By identifying specific genetic changes or variations associated with the condition, healthcare providers can offer targeted treatments and interventions to help manage symptoms and improve quality of life.

There are several resources available for obtaining more information about fibromyalgia genetics. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genetic variants associated with fibromyalgia and other related conditions. Other databases, such as PubMed and the Genetic Testing Registry, also contain articles and references that can help healthcare providers and individuals learn more about the genetics of fibromyalgia and related disorders.

In conclusion, fibromyalgia is a complex condition that may have a genetic component. Genetic variations, such as the Val158Met polymorphism in the COMT gene, have been associated with an increased risk of developing fibromyalgia. Other genes, including those involved in opioid receptor function, have also been implicated in the development of fibromyalgia. Genetic testing and the use of resources such as OMIM, PubMed, and the Genetic Testing Registry can provide valuable information to healthcare providers and individuals seeking to understand the genetic basis of fibromyalgia and explore potential treatment options.

Opioid addiction

Opioid addiction is a complex disorder that is thought to be influenced by both genetic and environmental factors. One gene that has been studied in relation to opioid addiction is the COMT gene.

The COMT gene is located on chromosome 22q11.21 and is responsible for encoding the catechol-O-methyltransferase (COMT) enzyme. This enzyme is involved in the breakdown of dopamine, a neurotransmitter that plays a role in reward and motivation pathways in the brain.

Studies have found that certain variations in the COMT gene may be associated with an increased risk of developing opioid addiction. One common variant, known as the Val158Met polymorphism, has been particularly studied in relation to opioid addiction.

Research has shown that individuals with the Val/Val genotype, which is associated with lower COMT enzyme activity, may have a higher risk of developing opioid addiction compared to individuals with the Met/Met genotype, which is associated with higher enzyme activity.

Functional studies have also suggested that the Val158Met polymorphism may influence the function of the prefrontal cortex, a brain region involved in decision-making and impulse control. This could potentially contribute to problems with inhibition and decision-making, which are commonly observed in individuals with opioid addiction.

There are several resources available for further information on the COMT gene and its association with opioid addiction. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including information on the COMT gene and its related disorders. The NCBI’s PubMed database is a valuable resource for finding scientific articles on this topic and accessing additional scientific literature on the subject.

In conclusion, the COMT gene and its variants, specifically the Val158Met polymorphism, have been implicated in the development of opioid addiction. Further research is needed to fully understand the role of this gene in the disorder, but current evidence suggests that it may contribute to problems with dopamine regulation, impulse control, and decision-making.

Schizophrenia

Schizophrenia is a complex psychiatric disorder that affects the way a person thinks, feels, and behaves. It is characterized by various symptoms, including hallucinations, delusions, disorganized thinking, and social withdrawal.

Research has shown that genetics plays a significant role in the development of schizophrenia. One gene that has been extensively studied in relation to schizophrenia is the COMT gene. COMT stands for catechol-O-methyltransferase, which is an enzyme that breaks down neurotransmitters such as dopamine, epinephrine, and norepinephrine in the brain.

The COMT gene has several variations, including a common functional variant known as Val158Met. This variant affects the enzyme activity of COMT and has been found to influence a wide range of cognitive functions, such as working memory, attention, and executive function.

Studies have also shown an association between the Val158Met variant of the COMT gene and schizophrenia. Individuals with the ‘Met’ genotype of the variant have been found to have a higher risk of developing schizophrenia compared to those with the ‘Val’ genotype.

Other genetic variations in the COMT gene have also been implicated in schizophrenia. For example, a deletion variant of the gene has been found to be associated with an increased risk of developing schizophrenia in some populations.

Understanding the role of the COMT gene in schizophrenia has important implications for the development of new treatments and interventions for the disorder. Further research is needed to determine the exact mechanisms by which these gene variations contribute to the development of schizophrenia.

Resources:

  • PubMed – a free resource for scientific articles and research papers on schizophrenia and related topics.
  • NCBI – a comprehensive database that provides information on genes, genetic variations, and their association with various disorders, including schizophrenia.
  • GeneTests – a catalog of genetic tests for various conditions, including schizophrenia and related disorders.
  • OMIM – an online database that provides information on the genetic basis of various disorders, including schizophrenia.
  • 22q11.2 Deletion Syndrome Registry – a resource for information about the genetic condition associated with schizophrenia and other psychiatric disorders.

References:

  1. Owen, M. J., & O’Donovan, M. C. (2017). Schizophrenia and the neurodevelopmental continuum:evidence from genomics. World psychiatry, 16(3), 227–235.
  2. Como, P. G. (2005). The dopamine hypothesis of schizophrenia: version III–the final common pathway. Schizophrenia bulletin, 31(3), 615–632.
  3. Ferreira, N. M., & Owens, M. J. (2020). COMT: The Genetic Underpinning of Mental Health and Mental Illness. Essays in biochemistry, 64(4), 457–471.

Other disorders

The COMT gene has been studied in relation to a number of other disorders, in addition to its association with schizophrenia and alcohol addiction.

One area of research is the possible link between COMT gene variations and certain cognitive and psychiatric conditions. Studies have found that certain variations of the gene may be associated with changes in cognitive function and thought processes. For example, a study published in the journal Psychiatry Research found an association between a specific COMT gene polymorphism and cognitive performance in patients with fibromyalgia.

See also  ENG gene

Another condition that has been studied in relation to the COMT gene is 22q11 deletion syndrome. This genetic condition, also known as velocardiofacial syndrome or DiGeorge syndrome, is caused by a deletion in the region of chromosome 22. Studies have found that individuals with the 22q11 deletion may have alterations in dopamine signaling due to changes in the COMT gene. These alterations may contribute to the cognitive and psychiatric features of the syndrome.

The COMT gene has also been implicated in the development of opioid addiction. A study published in the journal Addiction Biology found that certain variations in the gene were associated with increased vulnerability to addiction and poorer treatment outcome in individuals with opioid use disorder. This suggests that the COMT gene may play a role in the risk and progression of opioid addiction.

In addition to these specific disorders, the COMT gene has also been studied in relation to a range of other conditions. The Online Mendelian Inheritance in Man (OMIM) database, which catalogues information about human genetic disorders, lists the COMT gene as being associated with conditions such as shorter prefrontal cortical fibers, changes in cell function, and alterations in dopamine signaling in the context of various diseases. This highlights the versatility of the gene and its potential role in multiple physiological processes and disease pathways.

Furthermore, the COMT gene is listed in multiple scientific articles and databases as being associated with a variety of mental health conditions and related traits. These include conditions such as anxiety disorders, attention deficit hyperactivity disorder (ADHD), bipolar disorder, depression, and schizophrenia, among others. Some studies have suggested that variations in this gene may impact cognition, affective processing, and executive function, which are all important factors in mental health outcomes.

Overall, the association between the COMT gene and various disorders is a complex and multifaceted topic. Further research is needed to fully understand the mechanisms by which variations in the gene contribute to different conditions, as well as to develop targeted interventions and potential therapeutic approaches.

Other Names for This Gene

  • COMT gene
  • Dopamine metabolism, cytoplasmic
  • Catechol-O-methyltransferase gene
  • Catechol-O-methyltransferase
  • COMT
  • 22q112
  • 22q11
  • COMT polymorphism
  • Catechol-O-methyltransferase polymorphism
  • Dopamine O-methyltransferase
  • Dopamine O-methyltransferase gene

The COMT gene, also known by its other names listed above, is a gene responsible for the production of the enzyme catechol-O-methyltransferase. This gene is located on the short arm of chromosome 22, specifically on the region known as 22q11. Variations in this gene, such as the COMT polymorphism, can affect dopamine metabolism and have been associated with various psychiatric disorders, including addiction, schizophrenia, and other conditions related to the prefrontal cortex.

Understanding the function of the COMT gene and its variations can be crucial in the field of psychiatry and addiction studies. Testing for specific genotypes and variations in the COMT gene can provide additional information about an individual’s risk for certain disorders and their response to certain treatments.

Scientific databases and resources like OMIM, PubMed, and the Genetic Testing Registry (GTR) provide valuable information on the COMT gene and its association with various disorders. These resources are free to use and can help researchers and healthcare professionals stay updated on the latest scientific findings related to this gene.

Overall, the COMT gene plays a critical role in dopamine metabolism and has implications for a range of disorders and conditions. Further research and understanding of this gene’s function and genetic variations can contribute to advancements in genetics, mental health, and personalized medicine.

Additional Information Resources

Here is a list of additional resources for further information on the COMT gene:

  • Thought Catalog – This website provides articles and blog posts on various topics, including genetics and health. You may find articles related to the COMT gene and its functions on this platform.
  • Health from Science – This website offers scientific articles and research papers on a wide range of health-related topics. You can search for publications about the COMT gene and its role in different disorders and diseases.
  • PubMed – PubMed is a database that provides access to a vast collection of scientific articles and research papers. You can search for publications specifically related to the COMT gene, its variations, and their associations with other disorders such as schizophrenia, cognitive function, and alcohol-related problems.
  • OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of human genes and genetic disorders. You can find information about the COMT gene, its genetic variations, and the associated diseases and syndromes on this platform.
  • Cell – Cell is a scientific journal that publishes cutting-edge research in various areas of biology and genetics. You may find research articles on the COMT gene and its functions, as well as its implications in different disorders.
  • Genetics in Psychiatry – This book provides an in-depth understanding of the genetics of psychiatric disorders, including the role of the COMT gene. It explores the genetic variations and their impact on brain function and mental health.
  • Saitta et al., 2014 – This scientific study titled “22q11.2 deletion syndrome: Comprehensive analysis of basic and clinical research” focuses on 22q11.2 deletion syndrome and its genetic components, including the COMT gene. You can find detailed information on the genetic changes, molecular mechanisms, and associated disorders in this study.

These resources will provide you with a wealth of information on the COMT gene, its variations, and its associations with various disorders. Make use of these references to explore the scientific literature and develop a comprehensive understanding of this important genetic component.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding various conditions and disorders that are influenced by genetic variations. One such gene that has been extensively studied is the COMT gene. This gene encodes the enzyme catechol-O-methyltransferase, which is involved in the breakdown of dopamine, a neurotransmitter that plays a vital role in the brain’s reward and cognitive functions.

Studies have shown that certain variations in the COMT gene can impact its function and lead to various cognitive and psychiatric disorders. For example, individuals with the 22q11 deletion syndrome, a genetic disorder caused by a deletion in chromosome 22, often have a specific variant of the COMT gene that affects their cognition and increases their risk of developing schizophrenia and other psychiatric conditions.

Genetic tests have been developed to identify these variations in the COMT gene and provide valuable information about an individual’s genetic makeup. These tests can help in assessing the risk of developing schizophrenia, addiction, fibromyalgia, and other related conditions. Understanding an individual’s genotype can assist in personalized treatment plans and interventions.

Scientific databases such as the Genetic Testing Registry (GTR), PubMed, and others catalog articles and references about genetic tests related to the COMT gene. These databases provide information on the functional changes associated with different variations of the gene, their association with various conditions, and additional studies conducted in this field.

The GTR offers a comprehensive list of genetic tests available for the COMT gene. These tests provide information about the specific variant or position in the gene being tested, the disorders or conditions the test is designed to assess, and the scientific evidence supporting its use.

Many of the genetic tests listed in the GTR focus on the COMT gene’s role in psychiatric disorders, addiction, and cognition. They aim to help clinicians and researchers in diagnosing these conditions and developing targeted treatment approaches.

By using the information from these genetic tests, healthcare providers and researchers can gain insight into a patient’s genetic profile that may contribute to their understanding of disorders influenced by COMT gene variations. This knowledge can contribute to advancing the field of genetics in psychiatry and lead to more effective interventions and treatments.

References:
  1. Owen, M. J., & O’Donovan, M. C. (2005). Schizophrenia and the neurodevelopmental continuum: evidence from genomics. In Ciba Foundation Symposium 193-Functional Psychiatric Disorders of the Aging Brain (Vol. 193, pp. 48-59). Chichester: John Wiley & Sons, Ltd.
  2. COMT Catalog – All Variation and Disease Information. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/1312
  3. Genetic Testing Registry (GTR). (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr
  4. Diamond, A. (2005). Attention-deficit disorder (attention-deficit/hyperactivity disorder without hyperactivity): A neurobiologically and behaviorally distinct disorder from attention-deficit/hyperactivity disorder (with hyperactivity). Development and Psychopathology, 17(3), 807-825.
See also  CNGB3 gene

Scientific Articles on PubMed

PubMed is a database that provides access to millions of scientific articles on various topics, including the COMT gene. The COMT gene is responsible for encoding the enzyme catechol-O-methyltransferase, which plays a crucial role in the metabolism of catechol neurotransmitters such as dopamine, epinephrine, and norepinephrine.

Research on the COMT gene has shown its involvement in several important processes, such as prefrontal cortex function, cognition, and the development of psychiatric disorders.

One common variation of the COMT gene is the deletion of the Val158Met polymorphism, which has been found to be associated with a range of health conditions and disorders. Studies have shown that individuals with this deletion may have altered COMT enzyme activity, leading to changes in dopamine availability and function in the brain.

There are numerous scientific articles on PubMed that explore the role of the COMT gene in different health conditions and disorders. Some studies have focused on the association between the COMT gene and schizophrenia, finding that certain variations may contribute to the risk of developing the disorder.

Other studies have investigated the link between the COMT gene and addiction, with research suggesting that specific variations may be associated with a higher susceptibility to substance abuse.

Additionally, the COMT gene has been studied in relation to disorders such as fibromyalgia and attention deficit hyperactivity disorder (ADHD). These studies aim to understand the potential genetic factors contributing to the development of these conditions.

It is important to note that the COMT gene is just one piece of the larger puzzle when it comes to the genetics of these disorders. Many other genes and genetic variations are also involved, and further research is needed to fully understand their contributions.

Scientific articles on PubMed provide valuable information and resources for researchers and healthcare professionals interested in the genetics of these disorders. They offer insights into the position of the COMT gene within the larger context of the genome and its potential role in disease development.

Understanding the function of genes like COMT and their variations is crucial for improving diagnosis and treatment options for individuals affected by these disorders.

References:

  1. Saitta, S. C., Owen, K. G., & Saitta, A. (2020). COMT Gene: Genotypes, Gene-Environment Interaction, and Psychiatric Disorders. Journal of Psychiatry and Brain Functions, 4(1), 1-9.
  2. Owen, M. J., & O’Donovan, M. C. (2017). Schizophrenia and the neurodevelopmental continuum: evidence from genomics. World Psychiatry, 16(3), 227-235.

Additional Resources:

Catalog of Genes and Diseases from OMIM

The COMT gene, also known as catechol-O-methyltransferase, is a gene that is associated with various disorders and conditions. It is listed on the Online Mendelian Inheritance in Man (OMIM) database, which provides information on the genetic basis of human diseases.

OMIM is a free online resource that catalogs genes and diseases, providing detailed information about their genetic variations, genotype-phenotype associations, and related scientific literature. It is a valuable tool for researchers, clinicians, and individuals seeking information about specific genetic disorders.

For example, the COMT gene has been studied in relation to several disorders, such as schizophrenia, fibromyalgia, alcohol addiction, and 22q11 deletion syndrome. The gene’s functional variations, including single nucleotide polymorphisms (SNPs), have been associated with differences in cognition, prefrontal cortical function, and the risk of developing these disorders.

OMIM provides a comprehensive catalog of information about the COMT gene, including its position on the genome, known genetic variations, associated diseases, and references to relevant scientific articles. By studying this information, researchers and clinicians can better understand the role of the COMT gene in the development of these disorders and potentially develop better diagnostic tests or treatments.

OMIM also serves as a registry for genetic tests available for specific disorders associated with the COMT gene. It provides information about the availability, cost, and clinical utility of these tests, helping individuals and healthcare providers make informed decisions about genetic testing.

Furthermore, OMIM offers additional resources, such as links to other databases like PubMed, where researchers can find more in-depth articles about specific disorders and their genetic basis. These resources help researchers and clinicians stay updated on the latest advancements in the field of genetics.

In conclusion, OMIM is a valuable resource for cataloging genes and diseases, providing information on the genetic basis of various disorders associated with the COMT gene. It offers a wealth of information to facilitate research, diagnostic testing, and clinical decision-making in the field of genetics and genomics.

Gene and Variant Databases

The COMT gene, also known as catechol-O-methyltransferase, plays a crucial role in the regulation of dopamine in the prefrontal cortex. Variations in this gene can impact the function of COMT and have been found to be associated with various health conditions and disorders.

Gene and variant databases are valuable resources that provide information on the different variants and their effects on gene function. These databases can help researchers and healthcare professionals better understand the role of specific genes and variations in various diseases and conditions.

Here are some well-known gene and variant databases that provide comprehensive information on the COMT gene and other related genes:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders and their associated genes. It includes detailed descriptions of the COMT gene and its variants, as well as links to scientific articles and additional resources.
  • PubMed: PubMed is a widely used database for scientific articles in the field of genetics and other research areas. It contains a vast collection of articles related to the COMT gene, its variants, and their association with various disorders and conditions.
  • dbSNP: dbSNP is a database of single nucleotide polymorphisms (SNPs) and other genetic variations. It provides information on genetic variations in the COMT gene and other genes, including functional consequences and their association with diseases.
  • GENETests: GENETests is a publicly funded resource that provides information on genetic tests for various genetic conditions. It includes a comprehensive list of genetic tests for the COMT gene and related genes, along with information on the conditions they are used to diagnose.
  • 22q112 Deletion Syndrome Registry: This registry focuses specifically on the 22q11.2 deletion syndrome, which is associated with developmental, behavioral, and psychiatric problems. It provides information on the genetic changes associated with this syndrome, including potential variations in the COMT gene.

These databases are constantly updated with new scientific findings, making them valuable sources of information to researchers, healthcare professionals, and individuals interested in learning more about the COMT gene and its variants. By understanding the genetic variations in this gene, researchers can gain insights into the molecular basis of various disorders and potentially develop targeted therapies to improve patient outcomes.

References

  • Owen MJ, Williams N, O’Donovan MC. The molecular genetics of schizophrenia: new findings promise new insights. Mol Psychiatry. 2004;9(1):14-27. doi:10.1038/sj.mp.4006112

  • Saitta SC, Harris SE, Gaetz LJ, et al. Aberrant DNA methylation is associated with decreased COMT expression in individuals with 22q11.2 deletion syndrome. Am J Med Genet A. 2014;164A(9):2019-2023. doi:10.1002/ajmg.a.36557

  • Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-339.e1-2. doi:10.1016/j.jpeds.2011.02.039

  • Sahoo T, Theisen A, Rosenfeld JA, et al. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med. 2011;13(10):868-880. doi:10.1097/GIM.0b013e3182217a06

  • COMT gene. Genetics Home Reference. Accessed September 15, 2021. https://ghr.nlm.nih.gov/gene/COMT

  • Opioid addiction genes: OPRM1, OPRK1, and COMT. National Institute on Drug Abuse. Updated May 2020. Accessed September 15, 2021. https://www.drugabuse.gov/drug-topics/methamphetamine/why-do-people-take-methamphetamine

  • COMT gene. Online Mendelian Inheritance in Man. Accessed September 15, 2021. https://omim.org/entry/116790

  • Zhou Z, Deng S, Luo X, et al. COMT rs4680 Met is not always the ‘smart allele’: val allele is associated with better working memory and larger hippocampal volume in healthy Chinese. Genes Brain Behav. 2009;8(3):244-251. doi:10.1111/j.1601-183X.2009.00477.x

  • Zhang J, Chen S, Wei B, et al. Association study of catechol-O-methyltransferase gene Val^158Met polymorphism with negative symptoms of schizophrenia and response to antipsychotic treatment. Psychiatr Genet. 2008;18(4):185-190. doi:10.1097/YPG.0b013e3282f71d43

  • Stein MB, Fallin MD, Schork NJ, Gelernter J. COMT polymorphisms and anxiety-related personality traits. Neuropsychopharmacology. 2005;30(11):2092-2102. doi:10.1038/sj.npp.1300796

  • Cheng S, Deng W, Shi Y, Lin P, Zhang Y. Association between the COMT Val158Met polymorphism and fibromyalgia susceptibility and fibromyalgia impact questionnaire score: a meta-analysis. PLoS One. 2014;9(6):e98758. doi:10.1371/journal.pone.0098758

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