Genetic Impacts of Estrogen

Males and females produce estrogen. However, females tend to have more complications when it comes to estrogen and hormonal issues like endometriosis, PCOS, and hormones that are linked to certain cancers. There are genetic predispositions that make some individuals more susceptible but we have the ability to use the DNA Estrogen test from DNA life to understand individual genetic availability with hormone intervention to help identify women who have a higher exposure to estrogen. Based on these results, we are able to create a truly personalized plan.

The DNA Estrogen test looks at many different gene impacts and polymorphisms (SNPs) to see alleles associated with risk factors that could cause elevated levels and lead to DNA damage. An example of the DNA Estrogen test can be viewed below:

Genes

Breast cancer occurs in a majority of women who have no family history of it. However, with the use of this test and genetic testing, we can assist individuals by checking their risk factors and reducing the risk of them developing undetected cancer. The main genes that are checked in this report are those that have been associated with how estrogen is processed in the body and its related compounds.

CYP1A1

This gene is involved n the metabolism of estrogen and can play a role in breast and prostate cancer. This enzyme catalyzes in extrahepatic tissues like the breast tissues. Additionally, this is involved in activating cigarette smoke, diet, and environmental pollutants, and producing carcinogens.

There are two polymorphisms that can occur with this gene. One involving the Ille462Val>AG and the other Msp 1 T>C. In the A>C polymorphism the AA wildtype has no impact, the AG heterozygote has a moderate impact and the GG Homozygote has a high impact. In the T>C polymorphism, the TT wild type has no impact, the TC heterozygote has a moderate impact and the CC homozygote has a high impact.

When we see the A to turn a G it creates an amino acid substitution. The association between this SNP and cancer are well documented. The reason being is the G allele is known for increased enzyme activity that results in damaging the DNA.

When the C allele is detected, it has been shown with increased enzyme activity as well and leads to elevated levels of metabolites and DNA damage in breast tissue. For those who have a C or G allele, it is best to reduce their exposure to dietary and environmental procarcinogens like smoking. For more information on CYP1A1, please refer to GeneCards, The Human Gene DataBase.

CYP17A

This gene is responsible for mediating steroids and metabolizing the rate-limiting step. It is also involved in other reactions such as drug metabolism and metabolizing lipids. For this gene, the wildtype TT has no impact. The heterozygote TC has a moderate impact and the homozygotes CC has a moderate impact.

With this, we see the C allele increases enzymatic activity, leading to an increase in the estrogen that is bioavailability for the body. It is possible to modulate this metabolism through lifestyle modifications like increasing fiber, avoiding refined carbohydrates, and increasing exercise. For more information, please refer to GeneCards, The Human Gene DataBase.

CYP1B1

This enzyme catalyzes the 4-hydroxylation of estrogen and activities hydrocarbons. With this, we see that it has an impact of catalytic properties. The best way to help those who have a moderate or high impact is to reduce their exposure to smoking and use supplements to help them in phase two detoxification.

For these individuals, the wild type CC has no impact, the heterozygote CG has a moderate impact and the homozygotes GG has a high impact. For more information, please refer to GeneCards, The Human Gene DataBase.

COMT

COMT catalyzes the transfer of methyl groups. The o-methylation results in a major degrative pathway. COMT is important to metabolize drugs that are involved in hypertension, asthma, and Parkinson disease. However, if too much estrogen appears, there is an increased risk of breast cancer due to oxidative DNA damage. Studies have shown that the A allele has a reduction in the activity of the COMT enzyme which poses a threat.

The wild type is GG has no impact, the GA heterozygote has a moderate impact, and the AA homozygote has a high impact. For those who have an A allele, it is best to exercise regularly and keep weight under control. Additionally, it will help to increase food that supports estrogen pathways like cruciferous vegetables. For more information, please refer to GeneCards, the Human Gene DataBase.

SULT1A1

Involved in the inactivation of estrogen and inactivation of polycyclic aromatic hydrocarbons. The GG wildtype has no impact, the GA heterozygote has a moderate impact and the AA homozygotes has a moderate impact. With these genotypes, we see the A allele carriers have lower activity of the enzyme. This leads to higher BMI levels and postmenopausal breast cancer.

For those who have an A allele, it is best to increase their fiber and avoid refined carbohydrates. Exercise is a great way to help maintain a healthy BMI and reduce risk factors. For more information, please refer to GeneCards, The Human Gene DataBase. 

FACTOR V

Functions as a co-factor and helps with making a clot. The activated protein is a natural anticoagulant that limits the extent of clotting by cleaving and degrading factor V. Factor V is an inherited defect associated with risk venous thrombosis. The wildtype GG has no impact, the heterozygote GA has a moderate impact and the homozygotes AA has a high impact. the GA alleles have a slightly increased risk for thrombosis.

However, the AA genotype has a much greater risk, particularly in veins. Women with Factor V Leiden have an increased risk of clotting when they are taking contraceptive pills. For those who have the A allele, it is best to take other forms of contraception prevention that do not include estrogen. For more information, please refer to GeneCards, The Human Gene DataBase.

Test Pairing

Once we receive the results back, we typically run other labs to test pair and get a better base number of what is occurring inside the body. With the DNA estrogen test, one of the tests we pair with is a DUTCH test. The DUTCH test is a dried urine test that collects hormone and urine samples throughout the day. This allows us to test many estrogen metabolites as well as other hormonal factors that fluctuate throughout the day.

Genetic testing is important to help prevent the risk an individual has with chronic health diseases or cancers. Preventative medicine is the best way to combat these issues and tackle them in an effective way. Reducing inflammation and making sure our patients are healthy and safe is a number one priority. A sample is shown below:

Another test we use to test pair is the organic acids and nutritional testing from Genova. Organic acids are metabolic intermediates that are produced in pathways of energy production, detoxification, neurotransmitter breakdowns or intestinal microbial activity. These can be used as markers for oxidative stress and damage, functional vitamin status, phase 1 and phase 2 identification capacity. A sample of this test can be seen below:

To get started today, fill out this metabolic form below:

I highly recommend getting DNA testing done to truly maximize the health benefits and potential you have to reduce risk factors. Knowing about your genetics and what SNPs you carry is very important information and is now available to us. We need to take this opportunity and embrace the science we have today to start living our healthiest lives. -Kenna Vaughn, Senior Health Coach 

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