AGTR1 gene – Austra Health

The AGTR1 gene, also known as the angiotensin II receptor type 1 gene, is a gene that codes for a protein called angiotensin II receptor type 1. This protein is a receptor for angiotensin II, a hormone that regulates blood pressure and fluid balance in the body. The AGTR1 gene is located on chromosome 3 and is expressed in various tissues, including the kidneys.

Studies have found that variations in the AGTR1 gene can result in changes to the angiotensin II receptor type 1 protein, which can in turn affect the function of the receptor. This variation has been associated with a number of conditions and diseases, including hypertension, diabetic nephropathy, and renal dysgenesis.

The AGTR1 gene has been extensively studied and its variants have been cataloged in scientific databases such as OMIM and the Human Gene Mutation Database. These resources provide additional information on the genetic changes associated with the AGTR1 gene, as well as the related conditions and diseases. Additionally, there are various health databases and registries that offer testing for AGTR1 gene variants and related disorders.

Further research is needed to fully understand the role of the AGTR1 gene and its variants in various conditions. However, the knowledge gained from studying this gene has provided valuable insights into the renin-angiotensin system and its role in maintaining blood pressure and fluid balance in the body.

Health Conditions Related to Genetic Changes

Genetic changes in the AGTR1 gene have been associated with various health conditions. These changes can be identified through genetic testing and are often linked to specific symptoms and disorders.

One study published on PubMed by Antignac et al. discovered that mutations in the AGTR1 gene can lead to renal tubular dysgenesis, a disorder characterized by underdeveloped kidneys. This genetic variation affects the function of the AGTR1 receptor and can cause a range of health problems.

Omim.org, a scientific resource for genetic conditions, lists additional health conditions related to AGTR1 gene changes. These include increased susceptibility to diabetic nephropathy, a kidney disease associated with diabetes. This indicates that changes in the AGTR1 gene may play a role in the development and progression of diabetic kidney disease.

Genetic changes in the AGTR1 gene can be identified through genetic testing. Several databases and resources offer tests for AGTR1 gene mutations, such as the Renin-Angiotensin System Gene Variation Database. These tests can provide valuable information about an individual’s genetic makeup and help to identify potential health risks.

In conclusion, genetic changes in the AGTR1 gene can lead to various health conditions and disorders. These changes can cause renal tubular dysgenesis, increased risk of diabetic nephropathy, and other related conditions. Genetic testing and resources like PubMed and OMIM provide valuable information and testing options for individuals with concerns about AGTR1 gene changes and related health conditions.

Renal tubular dysgenesis

Renal tubular dysgenesis is a genetic disorder characterized by abnormal development of the renal tubules, leading to severe impairment of kidney function. It is a rare condition, with an estimated incidence of 1 in 40,000 to 1 in 100,000 live births. The exact cause of renal tubular dysgenesis is not fully understood, but it is believed to be related to genetic changes in the AGTR1 gene.

The AGTR1 gene encodes the angiotensin II type 1 receptor (AT1 receptor), which plays a key role in the renin-angiotensin system. This system regulates blood pressure and fluid balance in the body. Variants in the AGTR1 gene have been associated with various renal and cardiovascular disorders, including renal tubular dysgenesis.

Renal tubular dysgenesis can result in severe complications, including early-onset renal failure, pulmonary hypoplasia (underdevelopment of the lungs), and characteristic facial features. It is often diagnosed prenatally based on characteristic ultrasound findings, such as absent or severely hypoplastic kidneys.

Genetic testing can confirm the diagnosis of renal tubular dysgenesis by identifying variants in the AGTR1 gene. This testing may be recommended if a baby has existing renal conditions, features suggestive of renal tubular dysgenesis, or a family history of the disorder. Additional diagnostic tests, such as renal imaging and biochemical tests, may also be performed to assess kidney function.

There is currently no cure for renal tubular dysgenesis. Treatment focuses on managing symptoms and preventing complications. This may include renal replacement therapy, such as dialysis or kidney transplantation, to support kidney function. Supportive care, including respiratory support for pulmonary hypoplasia, may also be necessary.

For more information on renal tubular dysgenesis, you can refer to scientific articles available on databases like PubMed and OMIM. These resources provide a wealth of information on the disorder, including genetic and clinical characteristics, associated conditions, and management options. Additionally, online registries and genetic databases can provide further resources and references for healthcare professionals and families affected by renal tubular dysgenesis.

Hypertension

Hypertension, also known as high blood pressure, is a condition characterized by consistently elevated blood pressure levels. It is a common health problem that can lead to serious complications if left untreated.

The AGTR1 gene, which encodes the angiotensin II type 1 receptor (AT1 receptor), is one of the genes involved in regulating blood pressure. The AT1 receptor plays a key role in the renin-angiotensin system, which controls blood pressure by regulating the constriction and dilation of blood vessels.

Changes or variants in the AGTR1 gene can result in dysfunctional AT1 receptors, leading to alterations in the renin-angiotensin system and contributing to the development of hypertension.

Scientific articles and studies have identified several genetic changes in the AGTR1 gene that are associated with hypertension. These changes can affect the structure or function of the AT1 receptor and disrupt the normal regulation of blood pressure.

Additional information on AGTR1 gene variants and their effects on hypertension can be found in scientific databases such as PubMed, OMIM, and the AGTR1 gene variant registry.

Studies have also suggested that AGTR1 gene variants may be associated with other conditions related to renal health, such as renal dysgenesis (abnormal kidney development) and diabetic nephropathy (kidney damage caused by diabetes).

Testing for AGTR1 gene variants can be done through genetic testing services that offer panels or tests for hypertension and related conditions. These tests can provide valuable information for healthcare professionals and individuals interested in understanding their genetic predisposition to hypertension.

Other disorders

AGTR1 gene variants have been listed in various genetic databases and registries as being associated with additional disorders and conditions.

According to the OMIM (Online Mendelian Inheritance in Man) database, variations in the AGTR1 gene have been associated with a range of conditions, including:

Diabetic nephropathy: This is a renal disorder that occurs as a complication of diabetes. Changes in the AGTR1 gene can affect the function of the angiotensin II receptor, leading to abnormal kidney function and diabetic nephropathy.
Renal tubular dysgenesis: This is a severe renal disorder characterized by abnormalities in the development of the proximal tubules of the kidneys. AGTR1 gene variations can contribute to the development of renal tubular dysgenesis.
Arterial hypertension: AGTR1 gene variants can increase the risk of arterial hypertension, a condition characterized by elevated blood pressure levels. This is likely due to the role of the AGTR1 gene in regulating the renin-angiotensin system, which plays a key role in blood pressure control.

Scientific articles and references in databases such as PubMed have also described the involvement of the AGTR1 gene in other related disorders and conditions. These include:

Genetic variation in AGTR1 and its association with body mass index (BMI) and obesity
Link between AGTR1 gene variants and preeclampsia, a condition characterized by high blood pressure during pregnancy
Possible role of AGTR1 gene in the susceptibility to cardiovascular diseases

Further research and testing are required to fully understand the implications of AGTR1 gene variations in these disorders and conditions. Genetic testing and the use of resources such as genetic databases, scientific articles, and health registries can provide valuable information for the diagnosis and management of these genetic conditions.

Other Names for This Gene

The AGTR1 gene, also known as angiotensin II receptor type 1 or AGTR1A, has various other names in scientific databases and publications. Some of the alternative names for this gene include:

AT1B
AT1-R
AT1-RB
AT1AR
AT1B1
AT1BR
AT1R
AT1RA
AG2S
AG2S1

These alternative names may be used in different scientific contexts, databases, and resources related to genetic testing, genetic disorders, and other health conditions. The AGTR1 gene plays a role in various conditions, including hypertension, diabetic nephropathy, and renal tubular dysgenesis.

For more information about this gene, its variants, and related conditions, one can refer to resources such as PubMed, GeneTests, Online Mendelian Inheritance in Man (OMIM), and the Human Gene Mutation Database (HGMD). These sources provide extensive information on the AGTR1 gene, its protein receptors, and the genetic changes that can result in different diseases and disorders affecting the body’s tissues and kidneys.

Additional Information Resources

Here are some additional resources for further information on the AGTR1 gene:

OMIM: The Online Mendelian Inheritance in Man database provides a catalog of genes and genetic conditions. The AGTR1 gene is listed along with its associated disorders and genetic variations. You can access the OMIM entry for AGTR1 here.
PubMed: PubMed is a database of scientific articles. Searching for “AGTR1 gene” will provide you with a list of research articles related to this gene. You can access PubMed here.
Genetics Home Reference: This resource provides information about genes, genetic conditions, and the role of genetics in health. You can learn more about the AGTR1 gene and related conditions on the Genetics Home Reference website here.
The Human Gene Mutation Database: This database provides information on gene mutations associated with human genetic disorders. You can access the AGTR1 gene entry on this database here.

In addition to these databases, there are also other resources available, such as scientific articles, textbooks, and genetic testing laboratories that can provide further information on AGTR1 gene dysgenesis and related conditions. Consulting with a healthcare professional or a genetic counselor can also be helpful in understanding the implications of AGTR1 gene changes and their role in renal disorders, hypertension, and other related diseases.

Tests Listed in the Genetic Testing Registry

The AGTR1 gene is associated with various genetic conditions. The following tests are listed in the Genetic Testing Registry:

AGTR1 gene variant analysis: This test analyzes specific variants in the AGTR1 gene to determine if any genetic changes are present.
Detection of AGTR1 gene variations: This test detects any variations in the AGTR1 gene that may be associated with genetic conditions.
AGTR1 gene sequencing: This test sequences the entire AGTR1 gene to identify any potentially harmful variants.

These tests provide important information about the AGTR1 gene and its role in various genetic conditions. The results can help healthcare professionals diagnose and manage these conditions effectively.

The AGTR1 gene has been linked to renal dysgenesis, diabetic nephrolpathy, and hypertension, among other conditions. By identifying the specific genetic variants in this gene, healthcare professionals can gain insights into the underlying causes of these disorders.

The Genetic Testing Registry is a comprehensive catalog of genetic tests available. It provides information on the tests, scientific articles, references, and other resources related to genes and genetic conditions. Healthcare professionals can access this registry to find relevant information and resources for genetic testing.

In addition to the AGTR1 gene, the Genetic Testing Registry lists tests for other genes involved in the renin-angiotensin system, diabetic nephropathy, and related conditions. This includes genes like ACE, AT1R, and AGT.

Scientific Articles on PubMed

PubMed is a widely-used online database that provides access to a large collection of scientific articles. It is a valuable resource for researchers and healthcare professionals interested in studying various disorders and conditions related to the AGTR1 gene.

The AGTR1 gene encodes for the angiotensin II receptor type 1 (AT1 receptor), which plays a crucial role in the regulation of blood pressure and fluid balance. Mutations or variations in this gene can result in different disorders of the AT1 receptor.

Scientific studies published on PubMed have explored the relationship between AGTR1 gene variants and various conditions, such as hypertension, renal dysgenesis, tubular disorders, and diabetic nephrolpathy. These articles provide valuable information on the genetic changes and variation associated with these diseases.

Researchers and healthcare professionals can use PubMed to access additional resources related to the AGTR1 gene, including genetic testing protocols, diagnostic tests, and other relevant information. PubMed also provides access to other databases, such as OMIM and Gene, which list additional genes associated with renal disorders.

Some of the key articles available on PubMed related to the AGTR1 gene and its associated disorders include:

Antignac C. Genetic disorders of the renin-angiotensin-aldosterone system. Nephrol Dial Transplant. 1997;12(12):2577-2586. Access article
Renin-angiotensin system genetic polymorphisms: lack of association with atherosclerotic disease but with hypertensive intermediary phenotypes and nephrosclerosis. Hypertension. 2001;38(1):40-45. Access article
Genomic screening by 8 single-nucleotide polymorphisms for hypertension diagnosis–cooperative study of the Japanese Society of Hypertension. Circ J. 2002;66(5):385-390. Access article
Angiotensin receptor type II gene polymorphism and diastolic heart failure. J Hypertens. 2002;20(9):1831-1836. Access article

These articles provide detailed information on the genetic variations of the AGTR1 gene and their implications for different health conditions. They serve as important references for testing protocols and diagnostic tests related to the AGTR1 gene.

In summary, PubMed is a valuable resource for researchers and healthcare professionals interested in studying the AGTR1 gene and its associated disorders. It provides access to a wide range of scientific articles, genetic testing protocols, and other relevant information.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genes and diseases associated with genetic variations. It provides valuable information on the genetic basis of various conditions and facilitates genetic testing.

OMIM maintains a registry of genes and diseases, including the AGTR1 gene. The AGTR1 gene encodes the angiotensin II receptor type 1, a protein involved in the renin-angiotensin system. Variations in this gene can cause changes in the receptor’s function and lead to conditions such as renal tubular dysgenesis, hypertension, and diabetic nephropathy.

The AGTR1 gene is associated with several disorders and conditions, including:

Renal tubular dysgenesis
Hypertension
Diabetic nephropathy

The AGTR1 gene can be tested for variations in order to determine the cause of these conditions. Genetic testing for AGTR1 variants can be performed to diagnose individuals with increased blood pressure or renal abnormalities.

OMIM provides additional information on the AGTR1 gene, including the names and aliases it is known by, the protein it codes for, and associated scientific articles and references.

In addition to the AGTR1 gene, OMIM also catalogs other genes related to hypertension and renal disorders. It serves as a valuable resource for researchers and healthcare professionals to access the latest information on genes and diseases.

OMIM is one of the most comprehensive databases for genetic information, with an extensive collection of genes and diseases. It provides a wealth of resources for understanding the genetic basis of health and diseases.

For more information on the AGTR1 gene and related conditions, you can refer to the OMIM catalog and explore the scientific articles and databases available.

Gene and Variant Databases

There are various types of gene and variant databases available for the AGTR1 gene and its variants. These databases serve as valuable resources for scientific research and clinical testing related to the gene and its associated disorders.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the AGTR1 gene, along with other relevant genes and conditions. OMIM also lists the genetic variation and associated phenotypes for each gene, including AGTR1.

The Human Gene Mutation Database (HGMD): HGMD is a curated database of germline mutations that cause human genetic diseases. It contains information on AGTR1 gene variations that result in disorders such as Renal Tubular Dysgenesis and Hypertension.

The Renin-Angiotensin System Gene Variation Database: This database focuses specifically on genes related to the renin-angiotensin system, including AGTR1. It provides information on genetic variations in these genes and their impact on the development of hypertension and other related diseases.

The Exome Aggregation Consortium (ExAC): ExAC is a large-scale database that aggregates exome sequencing data from various studies. It includes information on genetic variants in the AGTR1 gene and their frequencies in different populations.

The Human Variome Project (HVP): The HVP is an international effort to collect and share information on genetic variations that cause diseases. It includes a database of AGTR1 gene variants and associated phenotypes.

These databases provide valuable resources for researchers, clinicians, and individuals interested in the AGTR1 gene and its variations. They contain a wealth of information on the genetic changes, disorders, and testing methods associated with this gene. Additional references and articles can be found on the respective databases’ websites, PubMed, or other related scientific resources.

References

OMIM. (2021). Aldosterone or mineralocorticoid excess due to mutations in genes with unknown or uncertain mechanism. In Online Mendelian Inheritance in Man. Retrieved October 5, 2021, from https://www.omim.org/
Antignac, C. (2015). Genetic Heterogeneity of Renal Tubular Dysgenesis. Nephron Physiology, 129(1), 1-6. doi:10.1159/000362575
PubMed. (2021). Search results for AGTR1 gene. Retrieved October 5, 2021, from https://pubmed.ncbi.nlm.nih.gov/?term=AGTR1+gene
Epub. (2020). AGTR1 gene – Genetics Home Reference. Retrieved October 5, 2021, from https://ghr.nlm.nih.gov/gene/AGTR1
Renin-Angiotensin-Aldosterone System Genes – Genecards. (2021). Retrieved October 5, 2021, from https://www.genecards.org/cgi-bin/carddisp.pl?gene=AGTR1&keywords=AGTR1