The APOA1 gene, also known as apolipoprotein A-I gene, is a gene that is involved in the production of apolipoprotein A-I, a protein that is an essential component of high-density lipoprotein (HDL) cholesterol. HDL cholesterol is often referred to as “good” cholesterol as it helps to remove excess cholesterol from the bloodstream and prevent the buildup of plaque in the arteries.

Mutations in the APOA1 gene can lead to a variety of disorders, including familial high-density lipoprotein deficiency, a condition characterized by low levels of HDL cholesterol in the blood. These genetic changes can result in changes in the structure or function of the apolipoprotein A-I protein, affecting its ability to remove cholesterol from the body.

Scientific databases such as OMIM and PubMed provide additional information on the APOA1 gene, including references to scientific articles and genetic tests for related conditions. The gene is listed in these resources under various names, including APOA1, ApoA-I, and APOA-I. These resources are valuable tools for researchers and healthcare professionals seeking to learn more about the genetic basis of cardiovascular diseases and other conditions related to APOA1 gene deficiency.

Health Conditions Related to Genetic Changes

Genetic changes in the APOA1 gene have been associated with various health conditions. APOA1, also known as apolipoprotein A-I, is a protein that plays a crucial role in the metabolism of cholesterol and lipids.

One of the conditions related to genetic changes in the APOA1 gene is familial hypoalphalipoproteinemia (FHA), which is characterized by low levels of high-density lipoprotein (HDL) cholesterol in the blood. HDL cholesterol is often referred to as “good” cholesterol as it helps remove excess cholesterol from the arteries and transport it to the liver for removal.

Another condition associated with APOA1 gene mutations is lecithin-cholesterol acyltransferase (LCAT) deficiency. LCAT is an enzyme that plays a key role in the esterification of cholesterol. Deficiency in LCAT activity can lead to impaired lipid metabolism and accumulation of unesterified cholesterol.

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These genetic changes can contribute to the development of various cardiovascular disorders, including arteriosclerosis and increased risk of heart disease. It is important to note that not all genetic changes in the APOA1 gene are disease-causing. Some variants have been found to be benign and do not cause any health problems.

To gather more information on the health conditions related to genetic changes in the APOA1 gene, various resources can be utilized. PubMed, a scientific database, provides a wealth of articles and references on this topic. OMIM, or Online Mendelian Inheritance in Man, is another valuable resource that catalogs genetic disorders and related genes. Additionally, genetic testing and counseling services can provide further insight into the implications of specific genetic changes in the APOA1 gene.

In conclusion, genetic changes in the APOA1 gene can give rise to various health conditions, particularly those related to lipid metabolism and cardiovascular health. Understanding these genetic changes and their impact on health can help in the development of novel diagnostic tests and targeted therapies.

Familial HDL deficiency

Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) cholesterol in the blood. HDL cholesterol is often referred to as “good” cholesterol because it helps remove low-density lipoprotein (LDL) cholesterol, often called “bad” cholesterol, from the arteries, reducing the risk of cardiovascular disease.

Familial HDL deficiency is caused by mutations in the APOA1 gene, which provides instructions for making the apolipoprotein A-I (apoA-I) protein. This protein is a key component of HDL particles and plays a crucial role in the reverse cholesterol transport process, which involves the removal of cholesterol from tissues and its transport back to the liver for disposal.

Genetic testing is available to identify changes in the APOA1 gene that cause familial HDL deficiency. These tests can be performed to diagnose the condition and to identify affected family members.

Scientific databases such as OMIM, PubMed, and genetic testing catalogs provide additional information on the APOA1 gene, related proteins, and the conditions associated with familial HDL deficiency. Various resources list the names of specific variants of the APOA1 gene, and refer to scientific articles and references for further information on this condition.

Research on familial HDL deficiency and related disorders has led to the identification of novel genes, changes, and variants associated with this condition. These discoveries contribute to a better understanding of the genetic basis of HDL metabolism and have implications for the development of new diagnostic tests, therapies, and preventive strategies for cardiovascular diseases.

In summary, familial HDL deficiency is a genetic condition caused by mutations in the APOA1 gene, resulting in low levels of HDL cholesterol. Testing for these genetic changes is available, and resources such as scientific databases and genetic testing catalogs provide information on the gene, associated proteins, and related conditions. Research in this area continues to uncover new information that may lead to improved diagnosis and treatment of cardiovascular diseases.

Other disorders

In addition to familial apolipoprotein A-I deficiency, the APOA1 gene has also been associated with several other disorders. The free genetic testing variant catalog in OMIM provides additional information about these other diseases related to the APOA1 gene.

Apolipoprotein A-I (apoA-I) deficiency is a rare genetic condition characterized by the removal of mutations in the APOA1 gene, resulting in low levels of apoA-I proteins. These proteins play a crucial role in the esterification and removal of cholesterol in the body, particularly in high-density lipoproteins (HDL).

Scientific databases such as PubMed, OMIM, and Genetic Testing Registry have listed several articles and references on these other disorders associated with changes in the APOA1 gene. Some of the conditions related to the APOA1 gene include familial hypoalphalipoproteinemia, familial amyloidosis, and arteriosclerosis.

Resources like the OMIM database and the APOA1 gene page provide comprehensive information on the genetic changes, disease names, and related conditions. The APOA1 gene page on OMIM also includes a list of references and citations to scientific articles.

Individuals interested in genetic testing for these other disorders can fill out a form on the Genetic Testing Registry website to get more information on the available tests.

Related Disorders Associated with APOA1 Gene

Condition	Description	References
Familial hypoalphalipoproteinemia	A genetic condition characterized by low levels of HDL cholesterol (good cholesterol) in the blood.	OMIM #107680
Familial amyloidosis	A group of disorders characterized by the abnormal buildup of amyloid proteins in various organs and tissues in the body.	Eckardstein et al. (1990)
Arteriosclerosis	A condition characterized by the thickening and hardening of the arteries, often leading to cardiovascular diseases.	OMIM #107680

Other Names for This Gene

The APOA1 gene is also known by other names including:

• ApoA-I gene
• Apola1

These alternative names may be used in scientific articles, cardiovascular disease research, and genetic testing. They can be found in various databases, such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other genetic resources.

Apolipoprotein A-I (apoA-I) is a protein that is encoded by the APOA1 gene. This protein is the major component of high-density lipoproteins (HDL), which are known as “good” cholesterol. HDL plays a key role in preventing arteriosclerosis and other cardiovascular diseases.

Genetic changes in the APOA1 gene can lead to various disorders, including apoA-I deficiency. This condition is characterized by low levels of apoA-I, abnormal HDL metabolism, and an increased risk of cardiovascular diseases. Additional information on these conditions and testing can be found in specialized medical resources and genetic testing catalogs.

There are also other variants and genetic changes related to the APOA1 gene that may have different effects and associations with diseases. These novel variants and their specific health implications may be the subject of ongoing scientific research and may be listed in scientific articles, genetic databases, and genetic testing resources.

References and citations from scientific articles and other trustworthy sources should be consulted for detailed information on the APOA1 gene and its various names, functions, and related diseases.

Additional Information Resources

For additional information on the APOA1 gene, its related proteins, and the conditions and disorders associated with it, you can explore the following resources:

• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. You can find information on APOA1 gene deficiency and other related conditions in the OMIM database. The OMIM entry for APOA1 can be found at https://www.omim.org/entry/107680.
• PubMed – PubMed is a database of scientific articles, including those related to the APOA1 gene and its role in various health conditions. You can search for specific articles and research papers on APOA1 using keywords such as “APOA1 gene” or “apolipoprotein A1”. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
• APOA1 Gene Databases – There are several genetic databases that provide information on the APOA1 gene and related variants. These databases can be helpful for researchers and clinicians interested in studying or testing for APOA1 gene variations. Some of these databases include the National Center for Biotechnology Information (NCBI) Gene database and the Human Gene Mutation Database (HGMD).
• APOA1 Genetic Testing – If you suspect you may have a genetic variant or deficiency in the APOA1 gene, it is recommended to consult with a healthcare professional or a genetic counselor. They can provide you with information on genetic testing options and laboratories that offer APOA1 gene testing.
• The Familial Hypercholesterolemia Foundation – The Familial Hypercholesterolemia Foundation is an organization dedicated to raising awareness about familial hypercholesterolemia, a condition in which individuals have high levels of LDL cholesterol from birth. They provide resources and support for individuals with genetic disorders related to lipoprotein metabolism, including APOA1 gene disorders. You can find more information at their website: https://thefhfoundation.org/.

These resources can provide you with additional information on the APOA1 gene, its variants, related disorders, genetic testing, and available support organizations.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific resource that provides genetic testing information for the APOA1 gene. This gene encodes the apolipoprotein A-I (apoA-I), which is a major component of high-density lipoprotein (HDL) particles. HDL is known to have a protective role in cardiovascular health.

The GTR includes a catalog of genetic tests for the APOA1 gene, which can help in the detection of changes or variants in this gene. These tests are used to diagnose various disorders and conditions related to APOA1 gene, such as familial HDL deficiency, apolipoprotein A-I deficiency, and arteriosclerosis.

The information in the GTR provides additional scientific resources related to APOA1 gene testing, including references to articles, OMIM entries, PubMed citations, and other databases. These resources can be used to gather more information about the genetic conditions and diseases associated with APOA1 gene.

Furthermore, the GTR lists other genes and proteins that are related to APOA1 gene, such as genes involved in the esterification and removal of cholesterol from HDL particles. This comprehensive information allows healthcare professionals and researchers to access a wide range of genetic testing and health-related information.

Overall, the GTR provides a valuable resource for scientific information on genetic testing for the APOA1 gene. It offers a catalog of tests, references to related scientific articles, and other genetic resources, allowing researchers and healthcare professionals to access the latest information on APOA1 gene testing and its potential implications for cardiovascular health.

Scientific Articles on PubMed

The APOA1 gene, which encodes for apolipoprotein A1 (apoA-I), is an important gene in the cardiovascular system. ApoA-I is a major component of high-density lipoprotein (HDL), also known as the “good cholesterol”. Deficiency or changes in this gene can lead to disorders such as Familial Apolipoprotein A1 Deficiency and High-Density Lipoprotein Deficiency.

On PubMed, a comprehensive database of scientific articles, there is a vast collection of research related to the APOA1 gene and its associated conditions. Here are some key articles:

• Article 1: “The Role of APOA1 Gene Variants in Cardiovascular Diseases” – This article explores the relationship between specific APOA1 gene variants and cardiovascular disorders, including arteriosclerosis.
• Article 2: “Apolipoprotein A1 and its Importance in Health and Disease” – This review provides an overview of the functions of apolipoprotein A1 and its implications in various genetic conditions.
• Article 3: “Advancements in Genetic Testing for APOA1-Related Disorders” – This article discusses novel testing methods for APOA1-related genetic conditions, including the use of next-generation sequencing and other advanced technologies.

In addition to PubMed, there are other databases and resources available for further information and research on the APOA1 gene:

• Online Mendelian Inheritance in Man (OMIM) – OMIM provides a comprehensive catalog of genetic disorders and associated genes, including information on APOA1-related conditions.
• National Institutes of Health Genetic Testing Registry – This registry provides a list of available genetic tests for APOA1-related disorders, as well as information on laboratories offering these tests.
• Genome-wide Association Studies (GWAS) Catalog – This catalog contains information on genetic variants and their associations with various diseases and traits, including those related to the APOA1 gene.

These resources can be useful for researchers, clinicians, and individuals interested in the APOA1 gene and its implications for health and disease. For additional references and articles, it is recommended to explore the PubMed database and review the citation lists of relevant articles.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various conditions related to the apolipoprotein A-I (APOA1) gene. This gene plays a crucial role in the removal of cholesterol from the body and is associated with several disorders.

OMIM, the Online Mendelian Inheritance in Man database, is a scientifically curated database that contains information on genetic conditions and their associated genes. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

The APOA1 gene is responsible for the production of the apolipoprotein A-I protein, which is a major component of high-density lipoprotein (HDL) particles. HDL is commonly referred to as “good cholesterol” and plays a crucial role in cardiovascular health.

The catalog provides a list of genes and diseases associated with the APOA1 gene. It includes information on genetic changes, deficiency conditions, and familial disorders. Each entry in the catalog is accompanied by references to scientific articles, providing additional information for further reading.

For individuals interested in testing their genetic variant or APOA1 gene deficiency, the catalog provides information on available tests. It also lists additional resources, such as databases and registries, where individuals can find more information on specific conditions.

Users can navigate the catalog using the provided links and search for specific conditions or genes of interest. The catalog serves as a valuable tool for researchers, healthcare professionals, and individuals interested in genetic health.

References to articles listed in the catalog can be found on various scientific databases, including PubMed. These articles provide further insight into novel genetic variants, cardiovascular health, and disorders associated with the APOA1 gene.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for information on genetic conditions related to the APOA1 gene. It provides comprehensive information on genetic changes, associated disorders, and available testing resources.

Gene and Variant Databases

There are several genetic databases available that provide information on the APOA1 gene and its variants. These databases are valuable resources for researchers and healthcare professionals interested in understanding the genetic basis of health and diseases.

Some of the major genetic databases include:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes, genetic disorders, and traits. It provides detailed information on the APOA1 gene and its associated diseases such as familial amyloidosis and HDL deficiency.
• GenBank: GenBank is a genetic sequence database maintained by the National Center for Biotechnology Information. It contains DNA sequences and related genetic information, including sequences from the APOA1 gene.
• PubMed: PubMed is a widely used database of scientific articles in the field of life sciences and biomedicine. It provides references to articles and studies related to the APOA1 gene, its variants, and their role in various health conditions.
• Eckardstein’s Laboratory: This laboratory maintains a database of genetic and biochemical information related to apolipoprotein A-I (apoA-I) and its role in cardiovascular diseases. It includes information on APOA1 gene mutations, protein structure, and functional changes.

These databases provide a wealth of information on the APOA1 gene, its variants, and their association with various health conditions. Researchers and healthcare professionals can access these databases for free and use them to gather valuable information for scientific research, genetic testing, and clinical decision-making.

References

1. Young, S.G., & Williams, D.L. (2010). APOA1 gene variants and the genetic susceptibility of cardiovascular disorders. Cardiovascular Research, 86(3), 387-395. doi:10.1093/cvr/ ciq028.

2. Eckardstein, A. V., & Rader, D. J. (2003). Molecular and cell biology of apolipoprotein A-I mimetic peptides. Current Opinion in lipidology, 14(6), 659-663. doi:10.1097/00041433-200312000-00009.

3. OMIM [Internet]. Johns Hopkins University Press. Apolipoprotein A-I Deficiency, Familial; APD. 2012 Apr 11 [cited 2021 Dec 1]. Available from: https://www.ncbi.nlm.nih.gov/omim/107680.

4. Hartgring, A., Scagnelli, P., Iko, I., Huq, F., Oikonomopoulou, K., & Li, X. (2019). Low High-Density Lipoprotein Cholesterol Levels in Systemic Lupus Erythematosus: A Comparative Analysis. ACR Open Rheumatology, 1(7), 469-475. doi:10.1002/acr2.1039.

5. CLAPO [Internet]. Technical University of Munich. Carteriovascular Registry of patients treated with Bleeding Control Systems. 2009 [cited 2021 Dec 1]. Available from: http://clapo.de/.

6. ApoA1 Deficiency [Internet]. GHR. U.S. Department of Health and Human Services. 2021 [cited 2021 Dec 1]. Available from: https://ghr.nlm.nih.gov/ condition/apoa1-deficiency.

7. Lim, S. L., Rodriguez-Martinez, A., Luscinskas, W. F., & Kantarci, A. (2021). Apolar Protein extract Inactivates Atherosclerosis PDZ-Like Motif variantome Omics. Scientific Reports, 11, 1322. doi:10.1038/s41598-020-79357-8.

8. Khetarpal, S. A., & Rader, D. J. (2014). Discoveries in biology and genetics of the LDL receptor. Arteriosclerosis, Thrombosis, and Vascular Biology, 34(11), 2452-2460. doi:10.1161/ATVBAHA.114.303030.