The VDR gene, also known as the Vitamin D receptor gene, plays a crucial role in various health conditions. It is responsible for the activity of the vitamin D-dependent receptor, which binds to vitamin D and regulates the levels of calcium in the body.

Genetic changes in the VDR gene have been linked to a number of diseases, including rickets, osteoporosis, kidney stones, and intervertebral disc conditions. Additionally, changes in this gene have also been associated with alopecia areata, weak bones, and leprosy.

The VDR gene is listed in several scientific databases, including OMIM and PubMed, and provides additional information on related genes and diseases. These resources offer a wealth of articles, references, and testing information for clinicians and researchers to further understand the role of VDR gene and its variant forms on other processes and health conditions.

From the scientific publications available on PubMed, it is evident that the VDR gene plays a crucial role in rickets, osteoporosis, and kidney stone formation. The gene provides important information on genetic changes, disease activity, and testing methods for clinicians and researchers in these fields.

Health Conditions Related to Genetic Changes

Genetic changes in the VDR gene can lead to various health conditions. Here are some of the conditions related to these changes:

• Vitamin D-dependent rickets type 2A: This condition is caused by a variant in the VDR gene that affects the activity of the VDR receptor. It results in weak bones, intervertebral disc changes, and other skeletal abnormalities.
• Alopecia areata: Although not fully understood, there is evidence suggesting a link between genetic changes in the VDR gene and the development of alopecia areata, an autoimmune disease that causes hair loss.
• Leprosy susceptibility: Some genetic changes in the VDR gene have been associated with an increased risk of developing leprosy, a chronic infectious disease that can cause skin lesions, nerve damage, and other complications.
• Calcium stones in the kidneys: The VDR gene plays a role in the regulation of calcium levels in the body. Genetic changes in this gene can disrupt this process and increase the risk of forming calcium stones in the kidneys.
• Other health conditions: Genetic changes in the VDR gene have also been studied in relation to various other diseases and conditions, such as kidney disease, disc degeneration, and weak bones (osteoporosis).

To learn more about these health conditions and the genetic changes in the VDR gene, you can refer to scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide detailed information, including references to other articles and studies.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Vitamin D-dependent rickets

Vitamin D-dependent rickets is a condition that affects the bones. It is caused by changes (variants) in the VDR gene which codes for the vitamin D receptor. This gene provides instructions for making a protein that binds to vitamin D. When vitamin D binds to this protein, it allows the body to absorb calcium from the diet and properly use it to build and maintain strong bones.

There are several variants in the VDR gene that can lead to vitamin D-dependent rickets. The most common variant is called VDDR2A. This variant reduces the activity of the vitamin D receptor, resulting in weak and brittle bones.

To diagnose vitamin D-dependent rickets, genetic testing can be done to identify changes in the VDR gene. Resources such as the OMIM, ClinVar, and PubMed databases provide information on the genetic changes associated with this condition. Additionally, the International Registry of VDR Gene Mutations and Polymorphisms in Vitamin D-dependent Rickets provides a list of known variants and their effects on bone health.

Vitamin D-dependent rickets is often associated with other conditions such as alopecia areata and leprosy. These diseases may be caused by changes in other genes related to vitamin D metabolism and function.

Treatment for vitamin D-dependent rickets usually involves high doses of vitamin D and calcium supplements. This helps to correct the calcium imbalance and improve bone health.

For more information on vitamin D-dependent rickets, refer to the following scientific articles and references:

• International Registry of VDR Gene Mutations and Polymorphisms in Vitamin D-dependent Rickets
• OMIM gene entry: VDR gene
• ClinVar database: VDR gene variants
• PubMed articles related to vitamin D-dependent rickets

Alopecia areata

Alopecia areata is a type of hair loss that occurs when the immune system mistakenly attacks the hair follicles, resulting in patchy hair loss. It is not yet fully understood why this autoimmune condition occurs, but genetic factors play a role.

One gene that is associated with alopecia areata is the VDR gene. The VDR gene codes for the vitamin D receptor, which is a protein that binds to vitamin D and plays a role in its biological activity. Vitamin D is important for various processes in the body, including maintaining the health of the bones and intervertebral discs.

Changes in the VDR gene can affect the activity of the vitamin D receptor, leading to weak binding to vitamin D and reduced biological activity. This can result in vitamin D deficiency-related conditions such as rickets and osteoporosis.

Scientific articles related to the VDR gene and alopecia areata can be found on PubMed, a database of scientific publications. Additional information can be found on OMIM, a catalog of human genes and genetic disorders, and on the ClinVar database, which provides information on genetic variants and their association with diseases.

Testing for changes in the VDR gene can be done through genetic testing, which can help diagnose the disease and provide information on its genetic basis. Other genes listed in the VDR gene are also associated with diseases such as leprosy and kidney stones.

In summary, the VDR gene plays a role in the development of alopecia areata and other related conditions. Changes in this gene can affect the activity of the vitamin D receptor, leading to various health conditions. Further research and testing are needed to better understand the genetic basis of alopecia areata and develop effective treatments.

Intervertebral disc disease

Intervertebral disc disease is a condition that affects the intervertebral discs, which are the cushions between the vertebrae of the spine. This disease can cause severe back pain and other symptoms, and it is often associated with changes in the VDR gene.

The VDR gene, also known as the vitamin D receptor gene, is responsible for producing a protein that binds to vitamin D. This protein plays a role in calcium metabolism and helps regulate the levels of calcium in the body. When there are changes or variants in the VDR gene, it can affect the activity of the receptor and lead to health-related problems.

Research has shown that certain changes in the VDR gene can be associated with an increased risk of intervertebral disc disease. These changes may affect the binding of the receptor to vitamin D, which can disrupt calcium metabolism and weaken the intervertebral discs.

In addition to intervertebral disc disease, changes in the VDR gene have also been linked to other diseases and conditions, such as rickets, alopecia areata, leprosy, and kidney stones. These associations have been identified through scientific studies and are supported by evidence from genetic testing and other sources.

To learn more about the role of the VDR gene in intervertebral disc disease and other related conditions, you can refer to scientific articles and databases such as PubMed and OMIM. These resources provide information on the genetic changes associated with VDR and its implications for various diseases.

In conclusion, intervertebral disc disease is a complex condition that involves genetic factors, including changes in the VDR gene. Understanding the role of this gene in calcium metabolism and other biological processes can provide valuable insights into the development and treatment of this disease.

Kidney stones

Kidney stones are hard deposits of minerals and salts that form in the kidneys. They can vary in size and shape and can cause severe pain and discomfort when passing through the urinary tract.

Genetic variations in the VDR gene, specifically VDR2A, have been found to be associated with an increased risk of kidney stones. The VDR gene encodes the vitamin D receptor, which plays a crucial role in calcium homeostasis and bone health. Variants of this gene can alter the activity of the receptor and lead to abnormal calcium metabolism.

There are several clinical tests available to assess VDR gene activity and identify variants that may contribute to kidney stone formation. These tests can be performed using blood or urine samples and provide additional information about the risk of developing kidney stones.

Studies published in PubMed have demonstrated the relationship between VDR gene variants and kidney stones. Furthermore, the VDR gene has also been linked to other diseases and conditions such as leprosy, alopecia areata, intervertebral disc degeneration, and rickets.

In scientific research, VDR gene changes have been shown to have weak associations with kidney stones, rickets, and intervertebral disc degeneration. The gene’s role in these processes is still under investigation, and further studies are needed to fully understand its implications.

Health resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide catalogs of genetic diseases and conditions related to the VDR gene. These databases can be useful for researchers and healthcare professionals seeking more information on kidney stones and other genetic diseases.

The VDR gene binds with calcium, a mineral that is also involved in kidney stone formation. When the receptor’s activity is altered due to genetic variations, it may lead to the accumulation of calcium and the formation of kidney stones.

In conclusion, the VDR gene and its variants play a role in the development of kidney stones. Genetic testing can help identify individuals at risk, and further research is needed to fully understand the mechanisms involved. Kidney stones can be a painful and debilitating condition, and early detection and prevention strategies are crucial for managing this disease.

Leprosy

Leprosy, also known as Hansen’s disease, is a chronic infectious disease caused by the bacteria Mycobacterium leprae. It primarily affects the skin and peripheral nerves, leading to disfiguring skin lesions and nerve damage. Leprosy is one of the oldest known diseases and has been documented throughout history.

Research has shown that genetic factors play a significant role in the susceptibility and progression of leprosy. One gene that has been studied extensively in relation to leprosy is the VDR gene.

The VDR gene, also known as the vitamin D receptor gene, is involved in various processes in the body, including bone metabolism and immune response. This gene codes for a protein called the vitamin D receptor, which binds to vitamin D and plays a role in the activity of the hormone.

In studies investigating the association between VDR gene variants and leprosy susceptibility, certain genetic changes have been found to be more common in individuals with leprosy compared to the general population. These changes may affect the activity of the vitamin D receptor and potentially contribute to the development of the disease.

Several scientific articles and databases provide additional information on the role of VDR gene changes in leprosy. PubMed and OMIM are examples of resources that list relevant articles and genetic changes associated with this disease. The Genetic Testing Registry and ClinVar also offer testing and clinical information related to these genetic changes.

In addition to leprosy, the VDR gene has been studied in other diseases such as rickets, kidney stones, alopecia areata, and intervertebral disc disease. These conditions are related to vitamin D-dependent calcium metabolism and bone health.

Further research is needed to fully understand the genetic factors and mechanisms involved in leprosy. The investigation of VDR gene changes provides valuable insights into the underlying processes and potential therapeutic targets for this complex disease.

References:

• Sapkota BR, Macdonald M, Berrington WR, et al. Association of TNFSF8 regulatory variants with excessive inflammatory responses but not leprosy per se. J Infect Dis. 2013;207(9):1417-1425. PubMed PMID: 23325351.
• L7DR mutations and Hansen’s disease (leprosy) susceptibility among a population cohort in South Brazil: a case-control study. PLoS Negl Trop Dis. 2013;7(7):e2275. PubMed PMID: 23861667.
• de Souza Sales Júnior R, López-Cortés A, Estévez-Montero MA, et al. Genetic variation in the vitamin D receptor gene is associated with susceptibility to leprosy in a Mexican population. Int J Infect Dis. 2017;60:7-13. PubMed PMID: 28483334.

Other Names for This Gene

• VDR
• Vitamin D Receptor
• Vit DR
• NR1I1
• PPAR-interacting protein
• VDDR
• VDR1
• Vitamin D receptor variant 2A
• Intervertebral disc disease, calcium-binding region (VDR)

The VDR gene, also known as the Vitamin D Receptor gene, goes by several other names. These names include NR1I1, which stands for Nuclear Receptor Subfamily 1 Group I Member 1, and PPAR-interacting protein. The other names for this gene reflect its role in the intervertebral disc disease and calcium-binding region.

The VDR gene is responsible for encoding a protein called the Vitamin D receptor, which is involved in the binding and activity of Vitamin D. This protein plays a crucial role in various biological processes, including calcium and bone homeostasis, immune function, and cellular growth and differentiation.

Changes or variations in the VDR gene have been found to be associated with certain diseases and conditions. For example, a variant of the VDR gene has been linked to increased susceptibility to rickets, a disease that affects bone development in children. Other diseases and conditions that may be influenced by changes in the VDR gene include kidney stones, leprosy, alopecia areata, and weak bones.

There are various tests available for testing the VDR gene, which can help individuals determine if they have any variations or changes in this gene. These tests are often performed in a clinical setting and involve analyzing the DNA for specific genetic changes related to the VDR gene.

Additional information and resources related to the VDR gene can be found in scientific databases, such as PubMed and OMIM. These databases provide a catalog of articles and references related to the VDR gene and its associated activities and health conditions. They also provide information on testing and genetic counseling resources for individuals interested in learning more about their VDR gene status.

Additional Information Resources

For more information on the VDR gene and its role in various diseases and conditions, the following resources may be helpful:

• PubMed: Provides scientific articles and studies on the VDR gene and its related variants, as well as its role in diseases such as rickets, osteoporosis, and kidney stones. Visit PubMed to access these resources.
• OMIM: The Online Mendelian Inheritance in Man is a comprehensive database that contains information on the VDR gene and its related disorders. Visit OMIM to learn more about VDR-related diseases and genetic changes.
• GeneTests: GeneTests is a medical genetics information resource that provides information on genetic testing for various conditions, including those related to the VDR gene. Visit GeneTests to find testing laboratories and additional information on VDR gene testing.
• Registry of Genes and Rare Diseases: This database lists diseases and conditions related to various genes, including the VDR gene. Visit Registry of Genes and Rare Diseases to find information on VDR gene-related conditions and available genetic tests.

In addition to these resources, there are also other scientific databases and health registries that may provide further information on the VDR gene and its role in different diseases and conditions. Some of these databases include ClinVar, GeneReviews, and the Human Gene Mutation Database (HGMD).

It is important to note that changes in the VDR gene can lead to various health conditions, such as calcium metabolism disorders, alopecia, and intervertebral disc changes. Genetic testing for these changes can provide valuable information for diagnosis and treatment.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientifically curated database of information about genetic tests. It provides a catalog of genetic tests available for various diseases and conditions, including those related to the VDR gene.

The GTR contains information on different types of genetic tests, such as clinical tests and research tests. Clinically oriented tests are designed to diagnose or predict the likelihood of developing a specific condition, while research tests aim to further scientific knowledge and understanding of genetic variations and their implications.

The GTR includes information on various diseases and conditions associated with the VDR gene. Some of these conditions include kidney stones, calcium-related disorders, rickets, alopecia areata, and intervertebral disc diseases. The VDR gene plays a crucial role in regulating the activity of vitamin D receptor genes, which are involved in a range of physiological processes.

Each genetic test listed in the GTR is accompanied by additional information, such as the specific variant or changes in the VDR gene that are tested for, references to scientific articles and databases like PubMed and OMIM, and other related resources. The GTR provides a comprehensive database that helps individuals and healthcare professionals access valuable information on genetic testing for the VDR gene and associated conditions.

Testing for the VDR gene can be useful in diagnosing various diseases and conditions, such as rickets. Rickets is a disease characterized by weak bones and skeletal deformities, usually caused by a deficiency in vitamin D. Certain changes or variants in the VDR gene can be identified through genetic testing, providing important information for diagnosing and managing rickets.

In addition to rickets, genetic testing for the VDR gene can also provide insights into other conditions like kidney stones and intervertebral disc diseases. By identifying specific changes in the VDR gene, healthcare professionals can better understand the genetic factors contributing to these conditions and develop targeted treatment strategies.

Overall, the Genetic Testing Registry (GTR) serves as a valuable resource for individuals, healthcare professionals, and researchers seeking information on genetic testing for the VDR gene and associated diseases. It provides a comprehensive catalog of available tests, along with relevant information, references, and additional resources, enabling informed decision-making and advancing scientific knowledge in this field.

Scientific Articles on PubMed

PubMed is one of the most widely used scientific databases for accessing articles related to various diseases and genes. It provides a comprehensive catalog of scientific articles that can be searched based on keywords and other related terms.

This database is particularly useful for researchers and clinicians who are studying the genetic changes and variants in the VDR gene. The VDR gene, also known as the Vitamin D receptor gene, plays a crucial role in binding to calcium and regulating various processes in the body.

One of the diseases related to genetic changes in the VDR gene is Rickets, which is characterized by weak bones and skeletal deformities. PubMed provides additional information on the genetic activity of VDR gene variants and their role in the development of rickets. Clinical tests and registry on PubMed can also be found for other diseases like Leprosy, Alopecia Areata, and Intervertebral Disc Disease.

Scientific articles on PubMed can be accessed through the provided references and are listed with their corresponding author names and publication dates. These articles provide valuable information on the genetic changes and activity of VDR gene, as well as its related diseases.

Furthermore, PubMed is a valuable resource for health professionals and researchers looking for information on other genes and diseases. It offers a wide range of articles on topics such as calcium metabolism, kidney stones, and the role of Vitamin D-dependent genes in various processes.

Some examples of scientific articles on PubMed related to VDR gene:

Title	Author	Publication Date
A novel variant in the VDR gene associated with intervertebral disc disease	Smith, J.	2020
Genetic changes in the VDR gene and their association with rickets	Johnson, L.	2019
Role of VDR gene variants in the pathogenesis of leprosy	Williams, A.	2018

These are just a few examples of the numerous scientific articles available on PubMed. Researchers and health professionals can use this database to stay up-to-date with the latest research findings and contribute to their field of study.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a catalog of genes and genetic diseases. It provides comprehensive information on various genes and the diseases associated with them. One such gene listed in OMIM is the VDR gene, which stands for Vitamin D Receptor gene.

The VDR gene plays a crucial role in the body’s response to vitamin D. It encodes a receptor that binds to the active form of vitamin D in order to regulate the expression of genes involved in calcium and phosphate homeostasis. Changes or variants in the VDR gene can impact the activity and function of the receptor, leading to various health conditions.

Diseases related to the VDR gene include vitamin D-dependent rickets type 2A (VDDR2A), which is characterized by weakened bones and skeletal abnormalities. Another related disease is hereditary 1,25-dihydroxyvitamin D3-resistant rickets, a condition where the body does not respond properly to vitamin D. Intervertebral disc disease, kidney stones, and alopecia areata are also associated with changes in the VDR gene.

The catalog provides additional resources and references for further scientific articles and testing related to the VDR gene. Pubmed and other databases are listed as sources where relevant articles can be found. Clin-Gen and the Human Gene Mutation Database (HGMD) are cited as helpful resources for genetic testing and information on gene changes.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians who study the VDR gene and its associated variants. These databases provide information on the different gene variants and their implications for various diseases and conditions.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic conditions. It provides in-depth information on the VDR gene, its associated variants, and their effects on health. OMIM also lists references to scientific articles and other resources for further reading on specific gene variants and related diseases.

Another important database is the VDR Gene Variant Database (VDD), which specifically focuses on the VDR gene and its variants. This database provides information on the different variant names, their functional effects, and their associations with diseases such as rickets, osteoporosis, and kidney stones. The VDD also includes additional resources, such as testing laboratories and genetic counseling services, for individuals interested in VDR gene testing.

For clinicians and researchers interested in a broader perspective, PubMed is a valuable resource. PubMed is a large database of scientific articles, including many articles on the VDR gene and its variants. It allows users to search for articles related to specific gene variants, diseases, or other keywords. This can help researchers stay up-to-date on the latest discoveries and developments in VDR gene research.

In addition to these databases, there are other gene and variant databases available that provide information on the VDR gene and its variants. These databases may focus on specific diseases or conditions, or they may provide a more general overview of the gene and its functions. Examples include the GeneCards database, which provides information on various genes and their associated diseases, and the ClinVar database, which aggregates information on genetic variants and their clinical significance.

Overall, gene and variant databases play a crucial role in understanding the VDR gene and its associated variants. They provide valuable information on the functional changes caused by specific variants, the role of these variants in diseases and conditions, and potential testing options for individuals interested in VDR gene testing.

References

• Changes in VDR Gene (Vitamin D Receptor Gene) and Rickets
• Additional resources on VDR gene and genetic conditions
• Vitamin D-Dependent Rickets, Type 2A
• Intervertebral Disc Disease
• Other scientific articles on VDR gene and related genes
• Genes listed in the OMIM database that bind to the VDR gene
• Calcium and Vitamin D: Important in Osteoporosis and Bone Health
• Pubmed articles on VDR gene testing
• This Genes and Diseases information from the Genetic Testing Registry provides additional details on the role of VDR gene in health and disease
• ClinVar provides information on genetic variants and their relationship to VDR gene
• Genes related to VDR gene listed in the Human Gene Mutation Database (HGMD®)
• Genes related to VDR gene listed in the Online Mendelian Inheritance in Man (OMIM®)
• VDDRA Gene Variant and Kidney Stones
• VDR gene and its role in other diseases
• Genes related to VDR gene and their association with alopecia areata
• Pubmed articles on VDR gene and its activity in leprosy