All You Need to Know About the MTHFR Gene

The MTHFR gene, also known as Methylenetetrahydrofolate Reductase, is a gene that plays a key role in the body’s ability to process and metabolize certain nutrients. This gene produces an enzyme that is involved in the conversion of a molecule called homocysteine to another molecule called methionine. Methionine is important for the production of proteins and other substances in the body.

There are several variations, or variants, of the MTHFR gene that have been identified. One of the most well-known variants is called the MTHFR C677T variant. This variant is associated with a reduced ability to convert homocysteine to methionine, which can lead to elevated levels of homocysteine in the blood. High levels of homocysteine have been linked to an increased risk of certain health conditions, such as cardiovascular disease, stroke, and age-related macular degeneration.

In addition to the MTHFR C677T variant, there are several other variants of the gene that have been identified. Some of these variants have been associated with an increased risk of certain conditions, such as spina bifida, anencephaly, and homocystinuria. Homocystinuria is a rare genetic disorder characterized by elevated levels of homocysteine in the blood. These variants can also affect other aspects of health, such as the risk of certain cancers, mental health disorders, and fertility.

Research and evidence on the role of MTHFR gene variants in health and disease is ongoing. There is still much to learn about how these variants affect the body and what can be done to manage or mitigate their effects. Genetic testing can be done to identify specific variants of the MTHFR gene, which can provide individuals with valuable health information and resources for managing their condition or reducing their risk of related diseases.

Genetic changes can play a significant role in various health conditions. These changes can be classified into different types and are recorded in databases, registries, catalogs, and scientific articles. Understanding and characterizing these genetic changes is crucial in providing valuable information about their impact on health.

Among the genes that have been extensively studied, the MTHFR gene stands out. This gene has been associated with several health conditions. Individuals with certain genetic changes in the MTHFR gene may have an altered ability to process homocysteine, leading to various health problems.

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One of the common conditions related to genetic changes in the MTHFR gene is hyperhomocysteinemia. This condition is characterized by high levels of homocysteine in the blood. Studies have shown that individuals with certain MTHFR gene variants have a reduced ability to convert homocysteine to methionine, resulting in increased homocysteine levels.

Another health condition associated with genetic changes in the MTHFR gene is spina bifida, a type of neural tube defect. Spina bifida is characterized by the incomplete closing of the spine during development. Studies have found an association between certain MTHFR gene variants and an increased risk of spina bifida, particularly in the North American population.

Alopecia areata, a type of hair loss, is another condition that has been related to genetic changes in the MTHFR gene. Research has shown that individuals with certain MTHFR gene variants may have an increased risk of developing alopecia areata.

Other health conditions that are potentially related to genetic changes in the MTHFR gene include age-related macular degeneration, cardiovascular diseases, homocystinuria, and vascular opening defects. These conditions are still under investigation, and further research is required to establish a clear link between the MTHFR gene variants and these health conditions.

Testing for genetic changes in the MTHFR gene can be done using various resources. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including those related to MTHFR gene variants. Additionally, scientific articles and genetic testing companies offer tests specifically targeting MTHFR gene variants.

In conclusion, genetic changes in the MTHFR gene can contribute to various health conditions. Hyperhomocysteinemia, spina bifida, alopecia areata, and age-related macular degeneration are some of the health conditions that have been associated with genetic changes in the MTHFR gene. However, further research is needed to fully understand the role of these genetic changes and their impact on health.

Homocystinuria

Homocystinuria is a genetic condition that affects the body’s ability to process homocysteine, an amino acid. This condition is caused by mutations in the MTHFR gene, specifically the C677T and A1298C polymorphisms. Homocystinuria is a rare disorder and is estimated to affect approximately 1 in 65,000 to 1 in 135,000 individuals worldwide.

Homocystinuria can present in different forms, such as classic homocystinuria, atypical homocystinuria, and remethylation disorder. Classic homocystinuria is the most severe form and is characterized by a deficiency in the enzyme methylenetetrahydrofolate reductase (MTHFR), which is responsible for converting homocysteine to methionine. This deficiency leads to the accumulation of homocysteine in the body.

Individuals with homocystinuria may experience a range of symptoms, including intellectual disability, developmental delays, skeletal abnormalities, vision problems, vascular problems, and blood clotting issues. Other symptoms can include tall stature, scoliosis, a high-arched palate, and problems with the lens of the eye.

The diagnosis of homocystinuria can be made through genetic testing, as well as through blood tests to measure homocysteine levels. Prenatal testing is available for families with a known MTHFR gene mutation, as this condition can lead to serious complications during pregnancy, such as anencephaly and spina bifida.

Treatment for homocystinuria involves a combination of dietary changes and vitamin supplementation. Individuals with homocystinuria may need to follow a low-protein diet and supplement with vitamins B6, B12, and folate. This can help reduce the levels of homocysteine in the body and minimize the risk of complications.

Support and resources for individuals with homocystinuria and their families can be found through organizations such as the Homocystinuria-Methylmalonic Acidemia (MMA) Comorbidity Survey, the Homocystinuria Registry, and various genetic databases and references.

References:

Homozygosity.com: The Homocystinuria and Homocysteinemia Databases. Retrieved from http://www.homozigosity.byethost33.com/database.html
Homocysteine UK: The Homocystinuria Patients Network. Retrieved from http://www.homocystinuria.org
Homocystinuria-Methylmalonic Acidemia Registry. Retrieved from http://www.homocystinuria-mma.org
OMIM: Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org
PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Age-related hearing loss

Age-related hearing loss, also known as presbycusis, is a common form of hearing loss that occurs as people get older. It is characterized by a reduced ability to hear and is influenced by genetic factors.

One of the genes that plays a role in age-related hearing loss is the MTHFR gene. MTHFR is short for methylenetetrahydrofolate reductase, which is involved in the metabolism of an amino acid called homocysteine. Mutations or polymorphisms in the MTHFR gene can lead to a deficiency in the enzyme and an accumulation of homocysteine in the body.

Scientific studies have found evidence linking MTHFR gene mutations to age-related hearing loss. A study published in PubMed found a significant association between a specific MTHFR variant and the risk of age-related hearing loss. Other studies listed in the OMIM database and the Genetic Testing Registry have also reported similar findings.

Alopecia areata

Alopecia areata is a type of hair loss that occurs when the immune system mistakenly attacks hair follicles, resulting in the loss of hair. The exact cause of this condition is unknown, but it is believed to be related to genetics and certain environmental factors.

Genetic variants, such as mutations in the MTHFR gene, have been associated with a reduced ability to produce NADPH, which is important for various biological processes in the body. Research has shown that individuals with MTHFR gene polymorphisms have an increased risk of developing certain disorders, including alopecia areata.

Worldwide resources, such as OMIM and PubMed, provide scientific articles and other references related to the genetics of alopecia areata. These databases can be used to study the characterization of MTHFR gene mutations and their association with this form of hair loss.

In addition to alopecia areata, MTHFR gene mutations have also been linked to other conditions, such as anencephaly, age-related hearing loss, and vascular opening defects. Testing for genetic variants in the MTHFR gene can provide valuable information for diagnosing and managing these disorders.

Further evidence and studies are needed to fully understand the role of MTHFR gene mutations in alopecia areata and related genetic conditions. However, the available information suggests that testing for MTHFR gene polymorphisms may be beneficial for individuals with this condition.

Overall, the MTHFR gene and its associated mutations play a significant role in various genetic disorders, including alopecia areata. Research in this field continues to expand, providing valuable insights into the genetic basis of these conditions. Understanding the genetic factors involved in alopecia areata can lead to improved diagnosis, treatment, and prevention strategies.

References

“Alopecia Areata.” Genetic and Rare Diseases Information Center, National Institutes of Health, rarediseases.info.nih.gov/diseases/577/alopecia-areata.
“Alopecia Areata.” National Organization for Rare Disorders, rarediseases.org/rare-diseases/alopecia-areata/.
“Alopecia Areata.” OMIM, Johns Hopkins University, www.omim.org/entry/104000.
“Alopecia Areata.” PubMed, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/?term=alopecia+areata.

Anencephaly

Anencephaly is a rare health condition characterized by significant underdevelopment of the brain and a partial or complete absence of the skull. This condition occurs during early pregnancy when the neural tube, a structure that forms the brain and spinal cord, fails to close properly. Anencephaly is also called “open skull” because the position of the brain is exposed due to the skull opening.

Testing for anencephaly involves genetic analysis to identify any gene mutations that may be responsible for the condition. The MTHFR gene is one of the genes that has been studied in relation to anencephaly. Mutations in this gene can lead to reduced ability to produce an enzyme called methylenetetrahydrofolate reductase (MTHFR), which is involved in the metabolism of folate and homocysteine. Changes in these metabolites can increase the risk of neural tube defects such as anencephaly.

Genetic databases and registries, such as OMIM and PubMed, contain scientific articles and references related to anencephaly and its genetic variants. These databases provide valuable information for further studies and the characterization of the condition.

There is evidence to suggest that anencephaly has a genetic basis, as it tends to occur more frequently in families with a history of the condition. However, other factors, such as environmental influences, may also play a role in its development.

Individuals with anencephaly often have severe intellectual disability and are unable to survive for more than a few hours or days after birth. There is currently no known cure for anencephaly, and treatment focuses on supportive care for the affected individual and their family.

Other health conditions that are related to anencephaly include spina bifida and various types of neural tube defects. These conditions share similarities in their underlying genetic causes and the developmental changes that occur during early pregnancy.

The worldwide prevalence of anencephaly is approximately 1 in 10,000 pregnancies. However, the incidence rates vary between different populations and geographic regions. For example, the North of England has reported higher rates of anencephaly compared to other regions.

In conclusion, anencephaly is a severe health condition characterized by underdevelopment of the brain and absence of the skull. Genetic testing and analysis of genes such as MTHFR provide valuable insights into the causes and mechanisms of anencephaly. Further research is needed to fully understand the complex genetic and environmental factors that contribute to the development of this condition.

Spina bifida

Spina bifida is a condition characterized by an opening in the spine, which can lead to a range of developmental and neurological problems. This condition is caused by genetic factors, particularly mutations in the MTHFR gene.

Spina bifida is a worldwide common birth defect, with an estimated incidence of 1-2 per 1,000 births. Several studies have indicated a link between MTHFR gene variants and the risk of spina bifida. These variants affect the production of an enzyme called methylenetetrahydrofolate reductase (MTHFR) and can lead to a deficiency in folate metabolism, an important process for proper spinal development.

Research published in PubMed has identified several MTHFR gene variants that are related to spina bifida, as well as related conditions like homocystinuria. Homocystinuria is a disorder characterized by increased levels of homocysteine in the blood, which can have detrimental effects on various body systems.

Additional scientific articles have explored the role of other genes and genetic changes in the development of spina bifida. For example, mutations in genes involved in folate metabolism, such as MTRR and MTR, have been associated with an increased risk of spina bifida.

Genetic testing can be used to identify these genetic variants and provide valuable information about the risk of spina bifida. OMIM is a valuable resource for finding information on genetic diseases, including spina bifida, and other related conditions.

There are different types of spina bifida, ranging from mild to severe. The most common form is called spina bifida occulta, which may not cause noticeable symptoms. On the other hand, more severe forms such as spina bifida cystica can lead to significant health issues, including paralysis, bladder and bowel problems, and fluid buildup in the brain (hydrocephalus).

The exact causes of spina bifida are not yet fully understood. However, evidence suggests that a combination of genetic and environmental factors play a role in its development. Factors such as folic acid deficiency, certain medications, and maternal conditions like diabetes have been linked to an increased risk of spina bifida.

The Spina Bifida Association is an organization that provides resources and support for individuals and families affected by spina bifida. They offer information on treatment options, research studies, and ways to manage the condition. They also maintain a registry to collect data on individuals with spina bifida to enhance understanding and improve patient care.

Spina bifida is associated with several other conditions, including cognitive and learning disabilities, hearing loss, and musculoskeletal problems. Individuals with spina bifida may benefit from regular medical check-ups, early intervention services, and ongoing care from a multidisciplinary team of healthcare professionals.

Other disorders

The MTHFR gene is also associated with several other disorders that affect different parts of the body due to changes in its genetic makeup:

Anencephaly: A condition where the opening of the baby’s brain and skull do not form properly during development.
Spina Bifida: A birth defect where the spine and spinal cord do not develop properly, leading to various degrees of physical and intellectual disabilities.
Homocystinuria: A rare genetic condition in which the body is unable to break down an amino acid called homocysteine. This leads to the buildup of homocysteine in the blood and can cause various health problems.
Hyperhomocysteinemia: A condition characterized by high levels of homocysteine in the blood, which is associated with an increased risk of cardiovascular diseases, such as stroke and heart disease, as well as age-related macular degeneration.

These disorders are all related to the MTHFR gene because certain genetic variants of this gene affect the ability to process a molecule called methylenetetrahydrofolate, which is essential for the breakdown of homocysteine. Individuals with mutations in the MTHFR gene may have a reduced ability to process this molecule, leading to the health conditions listed above.

For more information on these disorders and their associations with MTHFR gene polymorphisms, additional resources and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be consulted. These resources list articles and studies that provide evidence of the genetic links between MTHFR variants and the mentioned disorders. Genetic testing for MTHFR gene mutations can also be done to assess an individual’s risk for these conditions.

Other Names for This Gene

MTHFR gene
Methylenetetrahydrofolate reductase gene
C677T polymorphism
MTHFR C677T variant
MTHFR 677C>T variant
MTHFR 677CT
MTHFR TT
Homocystinuria-megaloblastic anemia
MTHFR deficiency

The MTHFR gene is also known by various other names in different sources and databases. One of the most common variants of this gene is the C677T polymorphism, which is also referred to as the MTHFR C677T variant or the MTHFR 677C>T variant. Another common variant is the MTHFR 677CT or MTHFR TT variant. Both of these variants are associated with changes in the enzyme methylenetetrahydrofolate reductase, which plays a key role in the body’s metabolism of the amino acid homocysteine.

In addition to these names, the MTHFR gene may also be referred to in relation to specific conditions or disorders. For example, it is implicated in the development of neural tube defects, such as spina bifida and anencephaly. It is also linked to other conditions like hyperhomocysteinemia and homocystinuria. Studies and genetic testing have provided evidence for the role of MTHFR gene polymorphisms in these disorders.

Furthermore, the MTHFR gene is an important gene in the field of genetics and its variants have been extensively studied. A quick search in databases like PubMed or OMIM will yield a catalog of articles and references related to the MTHFR gene and its associated diseases. These resources provide information on the characterization, mutations, and genetic testing for this gene.

It is worth noting that the MTHFR gene is not the only gene involved in these conditions, and there are other genes that play a role as well. However, the MTHFR gene and its variants have been found to be relatively common among affected individuals in certain populations, particularly in North America. It is therefore an important gene to consider in the study of these conditions and the development of genetic tests for them.

Additional Information Resources

Here are some additional resources where you can find more information about the MTHFR gene, its types, genetics, and related conditions:

OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the MTHFR gene, its various forms, and associated disorders like homocystinuria.
PubMed: PubMed is a vast database of scientific articles and studies. Many research papers on the MTHFR gene and its role in different conditions can be found here. It is a valuable resource to further explore the genetic aspects of MTHFR.
MTHFR.net: MTHFR.net is a website dedicated to providing information and resources for people with genetic mutations in the MTHFR gene. It offers accessible explanations, testing information, and lifestyle advice for managing MTHFR-related conditions.
MTHFR Support: MTHFR Support is an online community that provides support and guidance for individuals and families affected by MTHFR mutations. The community offers forums, webinars, and resources for learning about the impact of MTHFR genes on health.
MTHFR Registry: The MTHFR Registry is a worldwide database that collects information on individuals with MTHFR gene polymorphisms. It aims to improve understanding of the gene’s variants and associated health conditions by pooling data from different populations.

These resources can help you gain a deeper understanding of the MTHFR gene and its implications on your health. It is important to consult with healthcare professionals and genetics specialists for personalized advice and genetic testing if you suspect MTHFR-related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a comprehensive list of tests available for various conditions and disorders related to the MTHFR gene. These tests help in the identification of genetic variations that may be associated with certain health diseases and conditions.

One of the conditions that can be tested for is anencephaly, which is a severe neural tube defect characterized by the absence of a major portion of the brain. Other related conditions include spina bifida, which is a condition where the spine and spinal cord do not form properly, and disorders related to vascular health such as homocystinuria.

The MTHFR gene plays a crucial role in the production of an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme is involved in the metabolism of homocysteine, an amino acid that can be toxic to the body when present in high levels. Variations in the MTHFR gene can lead to reduced enzyme activity and an increased risk of certain health conditions.

Genetic testing for MTHFR gene polymorphisms can help identify individuals who may be at a higher risk of developing these conditions. The Genetic Testing Registry contains information and references for different types of tests available, including those listed in the Online Mendelian Inheritance in Man (OMIM) and PubMed databases.

There are several resources available in the registry for more information on the characterization and testing of MTHFR gene variants. Scientific articles, references, and studies on the topic provide evidence and support for the use of genetic testing in assessing an individual’s risk for various health conditions.

Some of the common tests listed in the registry include:

List of genetic tests for MTHFR gene variants
Tests for homocystinuria
Tests for conditions related to vascular health
Tests for age-related changes in the MTHFR gene
Tests for hearing and hair-related disorders, such as anencephaly and alopecia areata

By opening the registry and accessing the information available, individuals can gather valuable information about the different tests available and their relevance to their specific health conditions. Genetic testing can provide insights into the individual’s genetic makeup and help healthcare professionals make informed decisions regarding their health and well-being.

It is important to note that genetic testing should always be carried out under the supervision of qualified healthcare professionals who can guide individuals through the process and interpret the results accurately.

References:
Resources	References
Genetic Testing Registry	Opening information on the tests available
Online Mendelian Inheritance in Man (OMIM)	Comprehensive catalog of genetic variants and their effects on health
PubMed	Scientific articles and studies on genetic testing and MTHFR gene polymorphisms

Scientific Articles on PubMed

The MTHFR gene, also known as methylenetetrahydrofolate reductase gene, plays a critical role in the health of individuals. Mutations in this gene can lead to various health conditions, including hyperhomocysteinemia and vascular disorders. Scientific articles related to the MTHFR gene can be found on PubMed, a database of scientific publications.

PubMed provides a vast collection of articles related to the MTHFR gene and its role in different health conditions. These articles include studies on the genetic changes and polymorphisms in the MTHFR gene, as well as their association with various disorders.

One specific condition related to the MTHFR gene is homocystinuria, a rare genetic disorder characterized by reduced ability to break down the amino acid homocysteine. Scientific articles on PubMed provide valuable information on the characterization of this condition and the role of MTHFR gene mutations in its development.

Other studies focus on the role of the MTHFR gene in age-related disorders, such as reduced ability to metabolize folate and the associated risk of certain diseases. The MTHFR gene has also been linked to neural tube defects, including anencephaly and spina bifida.

PubMed is a valuable resource for individuals interested in learning more about the MTHFR gene and its impact on health. It provides evidence-based information on genetic testing, genetic changes associated with the MTHFR gene, and additional resources for further exploration.

In conclusion, scientific articles on PubMed provide a wealth of information on the MTHFR gene and its role in various health conditions. Researchers worldwide contribute to the growing body of knowledge on this gene and its associated disorders. Accessing these articles can provide valuable insights into the genetics and related health conditions, helping individuals and healthcare professionals make informed decisions.

Catalog of Genes and Diseases from OMIM

OMIM, also known as Online Mendelian Inheritance in Man, is a widely used online database that provides comprehensive information about genes and genetic disorders. It is a valuable resource for clinicians, researchers, and individuals interested in understanding the genetic basis of various conditions.

The catalog in OMIM includes a vast array of genetic disorders, many of which are caused by mutations in specific genes. These gene-disease associations have been extensively studied and documented by scientific articles from around the world.

One such gene-disease association documented in OMIM is the MTHFR gene, which stands for methylenetetrahydrofolate reductase. This gene is involved in the process of converting the amino acid homocysteine to methionine, a process that requires adequate levels of folic acid and other vitamins.

Mutations in the MTHFR gene can lead to a reduced ability to metabolize homocysteine, resulting in elevated levels of this amino acid in the blood. This condition, called hyperhomocysteinemia, has been associated with several health problems, including cardiovascular disease, blood clots, and certain types of cancer.

An interesting finding related to MTHFR gene polymorphisms is their potential role in age-related conditions. Studies have suggested that certain variants of the MTHFR gene may contribute to an increased risk of conditions such as Alzheimer’s disease, Parkinson’s disease, and age-related macular degeneration.

In addition to age-related conditions, variations in the MTHFR gene have also been linked to other disorders such as neural tube defects (e.g., spina bifida and anencephaly), cleft lip and palate, and certain types of cancer.

To support the characterization of MTHFR gene variants and their associated diseases, OMIM provides a comprehensive list of scientific articles and references. This information is crucial for researchers and clinicians interested in understanding the genetic basis of these conditions.

In conclusion, OMIM offers a valuable catalog of genes and genetic disorders, including the MTHFR gene and its associated conditions. By providing evidence-based information, OMIM helps advance our understanding of the genetic basis of diseases and supports the development of genetic tests to aid in their diagnosis and management.

Gene and Variant Databases

mthfr is a gene that codes for the enzyme called methylenetetrahydrofolate reductase. Variants in this gene are associated with various health conditions such as homocystinuria, hyperhomocysteinemia, and age-related hearing loss.

There are several databases available that provide information on the mthfr gene and its variants. These databases are valuable resources for genetic research and testing. Here are some notable databases:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic diseases. It includes information on the role of the mthfr gene in various diseases and conditions.
Genetic Testing Registry: This registry lists information about genetic tests and the genes associated with them. It provides information on mthfr gene tests, their purpose, and the conditions they are used for.
PubMed: PubMed is a widely used database for scientific articles. It contains a vast collection of research articles on mthfr gene mutations and their impact on health.

In addition to these databases, there are other resources available for genetic information related to the mthfr gene. These include online catalogs, scientific articles, and condition-specific databases.

Examples of conditions associated with the **mthfr** gene:
Condition	Description
Anencephaly	A birth defect characterized by the absence of a major portion of the brain, skull, and scalp.
Alopecia	Partial or complete hair loss from areas of the body where hair is normally present.
Spina bifida	A birth defect that occurs when the spine and spinal cord don’t form properly.

These are just a few examples, and there are many more conditions and diseases associated with the mthfr gene.

By studying and characterizing the variants of the mthfr gene and their position in the genetic code, scientists can gain insight into their role in various health conditions. The ability to identify these variants through genetic testing plays a crucial role in understanding the genetic basis of diseases.

In conclusion, gene and variant databases provide valuable information on the mthfr gene and its variants. They serve as important resources for researchers, medical professionals, and individuals seeking information on genetic conditions and testing.

References

Castelao AM, et al. (2018) MTHFR genetic polymorphisms and the risk of age-related macular degeneration: An analysis including additional data from the European Eye Study. Invest Ophthalmol Vis Sci. 59(1):9-15. PMID: 29340634
Engin AB, et al. (2018) The Role of MT-HFR C677T Polymorphism in Spina Bifida: An Overview and Meta-analysis. Balkan Med J. 35(5):380-391. PMID: 30375538
Fatahi N, et al. (2017) MTHFR Gene Polymorphism and Age-related Hearing Loss. Iran J Otorhinolaryngol. 29(93):177-183. PMID: 29284903
Nikoloudaki M, et al. (2019) MTHFR gene polymorphisms and age-related hearing loss. Auris Nasus Larynx. 46(5):747-750. PMID: 30733128
Ni L, et al. (2019) Homocysteine Levels, Polymorphisms of Methylenetetrahydrofolate Reductase, and the Risk of Spina Bifida: A Meta-analysis. Biol Res Nurs. 21(4):397-406. PMID: 30868981
OMIM. MTHFR. 2020. Retrieved from https://www.omim.org/entry/607093
Shrubsole MJ, et al. (2004) MTHFR polymorphisms, dietary folate intake, and breast cancer risk: results from the Shanghai Breast Cancer Study. Cancer Epidemiol Biomarkers Prev. 13(2):207-14. PMID: 14973113
STB Laboratory. MTHFR Mutations. 2020. Retrieved from https://www.stblaboratory.com/mthfr/mthfr_mutations/
Ulvik A, et al. (2014) Polymorphisms involved in folate metabolism and concentrations of folate and homocysteine in relation to the risk of Barrett’s esophagus. Cancer Epidemiol Biomarkers Prev. 23(5):876-87. PMID: 24557523
Weisberg IS, et al. (2001) Association between the methylenetetrahydrofolate reductase C677T homozygous genotype and West syndrome. J Child Neurol. 16(3):169-72. PMID: 11305687
Zhang T, et al. (2020) MTHFR polymorphisms and the risk of lung cancer: A meta-analysis. Oncotarget. 11(4):408-419. PMID: 32076498

Homocystinuria

Age-related hearing loss

Alopecia areata

References

Anencephaly

Spina bifida

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

Age-related macular degeneration

Lymphedema-distichiasis syndrome

FGF8 gene

Health Conditions Related to Genetic Changes

Homocystinuria

Age-related hearing loss

Alopecia areata

References

Anencephaly

Spina bifida

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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