In April 2017, the Food and Drug Administration (FDA) approved 23andmeย Alzheimer'sย genetic test to evaluate the risk of late-onset Alzheimerโs disease. This is the first time a direct-to-consumer genetic testing company was given the approval to market the test in the US. The genetic test looks for polymorphisms in a gene called apolipoprotein E (ApoE).
According to a factsheet by NIH, causes of Alzheimerโs likely include a combination of genetic, environmental, and lifestyle factors. The allele ฮต4 of apolipoprotein E4 (APOE ฮต4), is the most prevalent genetic risk factor for sporadic Alzheimerโs disease and is present in more than 50% of patients with Alzheimerโs Disease.
A study was conducted by The Stanford University Medical Centre on 2588 people who had a mild cognitive impairment and 5496 healthy elderly to find out which of the study participants had a higher risk of developing Alzheimerโs. It was found that people with mild cognitive defects who carried the risk variant of the ApoE4 gene were associated with an increased risk for developing Alzheimerโs when compared to people without the variant. ย
| CHIP Version | ACTN3 SNPs |
| 23andMe (Use your 23andme raw data to know your APOE Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA ย (Use your ancestry DNA raw data to know your APOE Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA ย (Use your FTDNA raw data to know your APOE Variant) | |
| OmniExpress microarray chip | Present |
23andme Alzheimer's test collectively constitutes the analysis of APOE e2, e3, e4 are three types of alleles for APOE gene. We all carry two copies of the APOE gene: e2/e2, e2/e3, e2/e4, e3/e3, e3/e4, e4/e4.
APOE Allele |
rs429358 |
rs7412 |
Risk of Alzheimerโs |
Distribution |
| ฮต2/ฮต2 | TT | TT | lower than normal | E2 - Relatively rare
E3 - Most common E4 - Lower frequency but confers higher risk |
| ฮต2/ฮต3 | TT | CT | lower than normal | |
| ฮต2/ฮต4 | CT | CT | slightly higher than normal | |
| ฮต3/ฮต3 | TT | CC | normal | |
| ฮต3/ฮต4 | CT | CC | higher than normal | |
| ฮต4/ฮต4 | CC | CC | highest risk |
Risk of any disease is compounded if an individual has multiple risk factors associated with a disease. So if you have family history of Alzheimerโs and are a E3/E4 or E4/E4 genotype, then your risk is further increased. Additionally, women who are carriers of E4 allele are at a higher risk compared to men. So, do not take genetic risk factors in isolation when disease risk is computed.
According to Alzheimerโs Association, regular physical exercise and a Mediterranean diet rich in whole grains, fish, poultry, beans, seeds, nuts, and vegetable oils may lower the risk of Alzheimerโs. Other conditions like high blood pressure, high cholesterol and diabetes have shown to increase the risk of Alzheimerโs. Concussions has also been linked to Alzheimerโs.
SNPedia on APOE: http://www.snpedia.com/index.php/APOE
The story of Eman Ahmed, the worldโs heaviest woman weighing nearly 500 Kg is now known to most. Her remarkable recovery has given hope to many that ย extreme obesity is indeed reversible. However, a factor in weight loss and reversing obesity is find out the root cause. Many weight loss attempts fail because this fundamental step is routinely skipped and instead โstandardโ advice is given to everyone. A quick search in google and a visit to a few dietitians will tell you that the โbasicโ weight loss advice is the same - low calories, low carbs, low sugars, low fats etc, with some minor superficial changes to make it appear like it's different than the others. This is more like a magic trick rather than a real weight loss solution. If you are someone who is overweight and seeking professional help or self-help, be aware that the knowledge and understanding of your body through genetics will help you immensely.
If Eman Ahmed had sought traditional weight loss help, she would have gone nowhere. Because the cause of her obesity is not the traditionally assumed โlack of diet discipline,โ her obesity was due to an extremely rare mutation in a gene called the Leptin Receptor gene. Before I explain that gene, let me first explain what Leptin is. Most of us do not suffer from these rare genetic defects, however, we carry genetic mutations, that confer varying degrees of similar effect in our bodies.
Handpicked article for you: Is Dr. Rhonda Patrick Diet For You? Analyze Your DNA Raw Data To Find Out Your Nutritional Needs!
Leptin is a hormone in our body. Hormones are key signalling molecules in the body. For example, the hormone testosterone signals the human body to produce male like features and attributes. The hormone estrogen, signals the body to produce more female like features. If you try to inject a female with heavy doses of testosterone, you will see that the female will begin to develop male like features. Every hormone has its functions in the body.
The Leptin hormone is called the satiety or hunger suppression hormone. If the levels of leptin in your blood are high, then you do not feel hungry. If they blood level of leptin is low, then w feel hungry. Itโs the hormone that signals to your brain โI am fullโ- therefore stop eating. If this signalling is not functioning well, then your brain does not get the โI am fullโ signal and continues to crave food. Leptin hormone is produced by the fat tissue when the fat reserves are running low, as in, when you are hungry, less leptin is produced prompting you to eat more. The brain thus receives the signal that the body is low on energy and more energy needs to be provided. When leptin levels are high, the feeling of hunger is suppressed.
When Leptin levels are low, feeling of hunger is increased and when leptin levels are high, hunger feeling is suppressed.
As in any signal, there has to be the source of the signal (where the signal come from) and the receiver of signal. For example, in your mobile phones, the source is the mobile tower and your phone is the receiver. Communication can be interrupted when there is a problem at either end. Similarly, the person with a leptin receptor mutation, has a problem at the ย leptin โreceiversโ in the brain. Even when the body has enough leptin, because the receptors are not receiving this signal, the signal is not captured and the body thinks there is not enough and hence continues to eat. In another instance, the receptors are fully functional but are less sensitive, so it takes more leptin create the same โfeel fullโ effect than it does in other people. In yet another instance, the does not produce this signal in sufficient amounts, a condition known as leptin deficiency. Such patients have been shown to benefit from leptin injections in reversing obesity. Here is another wonderful write up about Leptin and its actions in the human body. As you can see, there are various possibilities in a single hormone mechanism in how you could be different from others. You can imagine how many such variations exist between you and others in hundreds of such hormonal and metabolic pathways. Learning about just a few of these in how you are different from others, will go a long way in helping your weight loss.
Know your genes, Know your body, Know yourself!
The Peroxisome Proliferator- Activated Receptor Delta (PPARD) gene is associated with the synthesis of Peroxisome Proliferator- Activated Receptor Delta (PPARD), a protein associated with cell differentiation and lipid metabolism. Variations of this gene are associated with endurance and HDL cholesterol levels upon exercising.
In a study conducted on athletes, people with the C variant were associated with endurance. In another similar study, people with the C variant were found to be associated with better endurance.
In a study on PPARD gene polymorphisms and lipid responses upon exercising, people with the C variant showed a greater increase in HDL-C levels. In a study conducted on 2700 study participants, PPARD gene polymorphisms were shown to be associated with changes in HDL levels upon exercising.
| CHIP Version | PPARD SNPs |
| 23andMe (Use your 23andme raw data to know your PPARD Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA ย (Use your ancestry DNA raw data to know your PPARD Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA ย (Use your FTDNA raw data to know your PPARDย Variant) | |
| OmniExpress microarray chip | Present |
Genotype |
Phenotype |
Recommendation |
| CC |
[Advantage] More likely to have better endurance [Advantage] More likely to have higher HDL levels upon exercising |
|
| CT |
Moderate endurance |
|
| TT |
[Limitation] More likely to have lower endurance [Limitation] More likely to have lower HDL levels upon exercising |
|
[idea]Find out which variation of the gene you carry and more at www.xcode.life[/idea]
โNutrigenetics, fitness genetics, health genetics are all nascent but rapidly growing areas within human genetics. The information provided herein is based on preliminary scientific studies and it is to be read and understood in that context.โ
The Serum and Glucocorticoid regulated kinase 1 (SGK1) gene is associated with the synthesis of serum and glucocorticoid regulated kinase 1, an enzyme which is associated with stress response. This kinase is also known to be associated with renal sodium retention. Increase in SGK1 is shown to be associated with increased sodium reabsorption and increase in blood pressure.
Our ancestors who lived between 2 million and 10,000 years ago were hunters and consumed less than 1g/day of salt from the animals and fruits and vegetables that they ate. Salt began to be used extensively when its properties associated with food preservation was discovered. Currently, salt intake is as high as 10 mg/day, which is shown to be associated with an increase in blood pressure and risk for cardiovascular disease.
In a study, people with the C variant were shown to be associated with higher diastolic blood pressure on high salt intake than people with the T variant.
| CHIP Version | SGK1 SNPs |
| 23andMe (Use your 23andme raw data to know your SGK1 Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA ย (Use your ancestry DNA raw data to know your SGK1 Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA ย (Use your FTDNA raw data to know your SGK1 Variant) | |
| OmniExpress microarray chip | Present |
Genotype |
Phenotype |
Recommendations |
| CC |
[Limitation]Salt Sensitive [Limitation]Greater increase in blood pressure on a high salt intake |
|
| CT | Intermediate response to salt intake and blood pressure | |
| TT |
[Advantage]Normal Salt Sensitivity [Advantage]No significant increase in blood pressure in response to high salt diet |
|
[idea]Find out which variation of the gene you carry and more at www.xcode.life[/idea]
โNutrigenetics, fitness genetics, health genetics are all nascent but rapidly growing areas within human genetics. The information provided herein is based on preliminary scientific studies and it is to be read and understood in that context.โ
The Transcription factor AP 2 beta (TFAP2B) gene is associated with the synthesis of transcription factor AP 2 beta, which is associated with the stimulation of cell proliferation and in the destruction of cells (apoptosis).
Our ancestors consumed a diet that is believed to have been 35% high in fats, 35% from carbohydrates and 30% from proteins.
People with certain variations of the TFAP2B are associated with a better response to high protein in the diet.
In a study conducted to identify a suitable diet for weight loss, a trial was conducted among 932 obese families.
People with the A variant of the gene were shown to be associated with lower weight regain on a high protein diet (>5.4 points higher protein intake than the normal protein intake group) and low G.I carbohydrates group.
In another study, people with the G variant on a high protein diet gained 1.84 kg per risk allele, when compared to people with the AA genotype.
| CHIP Version | TFAP2B SNPs |
|---|---|
| 23andMe (Use your 23andMe raw data to know your TFAP2B Variant) | |
| v1 23andMe | Present |
| v2 23andMe | Present |
| v3 23andMe | Present |
| v4 23andMe | Present |
| v5 23andMe (current) | Present |
| AncestryDNA (Use your ancestry DNA raw data to know your TFAP2B Variant) | |
| v1 AncestryDNA | Present |
| v2 AncestryDNA (current) | Present |
| Family Tree DNA (Use your FTDNA raw data to know your TFAP2B Variant) | |
| OmniExpress microarray chip | Present |
| Genotype rs987237 | Phenotype | Recommendations |
|---|---|---|
| GG | [Limitation] More likely to have higher weight regain on a high protein diet | Eat a balanced meal |
| AG | Moderate weight regain on a high protein diet | Eat a balanced meal |
| AA | [Advantage] More likely to have lower weight regain on a high protein diet | A high protein diet helps curb hunger Protein rich food sources are seafood, cheese, soy, eggs, beans, nuts, seeds and meat Choose protein sources that have nutritive value like salmon which is rich in omega 3 or beans which is rich in fiber. |
Upload your raw data to Xcode Life for insights into 700+ health-related traits!
The Angiotensinogen (AGT) gene is associated with the synthesis of angiotensinogen, a part of the renin-angiotensin system and a precursor to the hormone angiotensin II. Angiotensin is shown to be associated with narrowing of the blood vessels which may increase blood pressure. Angiotensinogen is also associated with the production of aldosterone, which is associated with the absorption of salt and water in the kidneys.
People with certain variants of this gene are associated with increased production of angiotensinogen, which makes them salt sensitive, with increased retention of sodium in the blood.
| CHIP Version | AGT SNPs |
| 23andMe (Use your 23andme raw data to know your AGT Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA ย (Use your ancestry DNA raw data to know your AGT Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA ย (Use your FTDNA raw data to know your AGT Variant) | |
| OmniExpress microarray chip | Present |
In a study conducted on hypertensive men and women, people with the G variant of the gene were associated with greater blood pressure reduction on low salt intake than people with the A variant.
Genotype |
Phenotype |
Recommendations |
| GG |
[Limitation]Salt Sensitive [Limitation]Greater increase in blood pressure on a high salt intake |
|
| AG |
Intermediate response to salt intake and blood pressure |
|
| AA |
[Advantage]Normal Salt Sensitivity [Advantage]No significant increase in blood pressure in response to high salt diet |
|
[idea]Find out which variation of the gene you carry and more at www.xcode.life[/idea]
โNutrigenetics, fitness genetics, health genetics are all nascent but rapidly growing areas within human genetics. The information provided herein is based on preliminary scientific studies and it is to be read and understood in that context.โ
