The Group Specific Component globulin (GC) gene is associated with the synthesis of Group Specific Component globulin (GC), also called the Vitamin D Binding Protein (VDBP), which binds to vitamin D and its plasma metabolites, transporting them to the target tissue. This protein is synthesized by the hepatic parenchymal cells and then secreted into the blood stream. People with the C variant of the gene are shown to be associated with lower vitamin D levels.
Vitamin D is necessary for strong bones and for the absorption of calcium, low level of vitamin D is associated with brittle bones and poor muscle function. Vitamin D deficiency is identified by measuring the level of 25, hydroxy vitamin D in the blood. Increased plasma concentration of plasma 25, hydroxy vitamin D is associated with reduced risk of hypertension.
| CHIP Version | GC SNPs |
| 23andMe (Use your 23andme raw data to know your GC Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA (Use your ancestry DNA raw data to know your GC Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA (Use your FTDNA raw data to know your GC Variant) | |
| OmniExpress microarray chip | Present |
The GC gene is found to be the strongest genetic determinant of the bioavailability of 25, hydroxy vitamin D. There are three isoforms of GC- GC1F, GC2 and GC1S, they are based on a combination of alleles of the SNPs rs7041 and rs 4588 (rs 2282679 is a close proxy). The isoform GC1F is more common among people with dark skin when compared with people with pale skin. GC2 and GC1S are more common among people with pale skin than among people with dark skin.
The vitamin D binding protein (VDBP) in people with the GC1 isoform has a higher affinity for vitamin D metabolites. This is shown to be associated with variations in the bioavailability of circulating 25, hydroxy vitamin D levels among ethnicities.
| Genotype | Phenotype |
|---|---|
| CC | [Limitation] More likely to have lower plasma 25, hydroxy vitamin D |
| CA | Moderate plasma 25, hydroxy vitamin D |
| AA | [Advantage] More likely to have higher plasma 25, hydroxy vitamin D |
How can this information be used?
It is important to choose an appropriate diet based on the genetic profile
| For people with C variant (Decrease in plasma 25, hydroxy vitamin D) Likely decrease in plasma 25, hydroxy vitamin D Include 1000 I.U of vitamin D per day Ensure sufficient exposure to sunlight; include enjoyable activities like taking the dog for a walk or a day at the beach with family. |
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| For people with A variant (Normal plasma 25, hydroxy vitamin D) Increased likelihood for normal level of plasma 25, hydroxy vitamin D if the dietary intake is sufficient Spend time outdoors for adequate exposure to sunlight |
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“Nutrigenetics, 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.”
The Insulin signaling protein type 2 gene (INSIG2) is associated with the synthesis of INSIG2 protein which interacts with transcription factors, activating the synthesis of cholesterol and fatty acids. The variants of the INSIG2 gene have been shown to be associated with body fat accumulation. Specific alleles of this gene are known to either increase or decrease INSIG2 protein levels which are associated with subcutaneous fat accumulation upon exercising.
| CHIP Version | INSIG2 SNPs |
| 23andMe (Use your 23andme raw data to know your INSIG2 Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA (Use your ancestry DNA raw data to know your INSIG2 Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA (Use your FTDNA raw data to know your INSIG2 Variant) | |
| OmniExpress microarray chip | Present |
In the Framingham Heart Study, people with the C variant of the gene were shown to be associated with obesity, measured in terms of BMI. In a recent similar study conducted on a North Indian population, there was a significant association between INSIG2 gene polymorphism and severe obesity. In another study that analyzed the level of subcutaneous fat, women with the C variant of the gene were shown to be associated with higher levels of baseline subcutaneous fat.
Men with the C variant of the gene were associated with higher gain in subcutaneous fat upon resistance training while men with the G variant showed a loss in subcutaneous fat. In another study, men with the G variant of the allele were shown to be associated with Intramuscular (IMAT) volume in the upper arm after 12 weeks of training than for the subcutaneous fat. In a study on obese children who were on a weight loss program, children with the C variant of the gene were found to lose less weight than children with the G variant.
In a study conducted on Japanese women, the C variant of the gene was shown to have a protective effect on the progression of hypercholesterolemia when on a high fat diet. On an initial analysis in another study, women with the C variant of the gene showed a lower prevalence for hypercholesterolemia.
| Genotype | Phenotype | Recommendation |
| CC | [Limitation] More likely to have higher BMI [Limitation] More likely to have higher subcutaneous fat upon resistance training [Advantage] Less likely to have hypercholesterolemia (Women) | Likely increase in subcutaneous fat upon strength training Including fitness programs, other than strength training might be more beneficial Additional effort may be required to lose weight when compared to people with the G variant |
| CG | Moderate BMI and subcutaneous fat accumulation upon exercising | Likely increase in subcutaneous fat upon strength training Including fitness programs, other than strength training might be more beneficial Additional effort may be required to lose weight when compared to people with the G variant |
| GG | [Advantage] More likely to have lower BMI [Advantage] More likely to have lower subcutaneous fat upon exercising [Limitation] More Likely to have hypercholesterolemia(women) | Likely lower subcutaneous fat upon exercising Strength training has not been shown to be associated with increase in subcutaneous fat upon exercising. There is an increase in Intramuscular volume on training, which may benefit bodybuilders |
“Nutrigenetics, 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.”
The Peroxisome Proliferator- Activated Receptor (PPARA) gene is associated with the synthesis of Peroxisome Proliferator- Activated Receptor Alpha (PPARA), a protein associated with the activation of other genes and also in regulation of fatty acid oxidation during exercise. A lack of energy in the cells activate this gene like during endurance exercises or when fasting. Variants of the gene are shown to be associated with endurance, power, aerobic capacity and cardio fitness (heart rate)
PPARA level is higher in tissues which catabolize fatty acids like skeletal and cardiac muscle and the liver while it is lower in other tissues like the pancreas.
| CHIP Version | PPARA SNPs |
| 23andMe (Use your 23andme raw data to know your PPARA Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA (Use your ancestry DNA raw data to know your PPARA Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA (Use your FTDNA raw data to know your PPARA Variant) | |
| OmniExpress microarray chip | Present |
In a study conducted on athletes, people with G variant were associated with endurance. A similar study conducted on soccer players showed that people with the G variant were highly represented. People with the G variant were found to have higher amount of slow twitch fibers.
People with the C variant of the gene had better hand grip strength, thereby, better at power based activities than people with the G variant.
People with the G variant were associated with higher oxygen consumption, thereby better aerobic capacity when compared with people with the C variant of the gene.
People with the G variant were associated with higher values of oxygen pulse.
| Genotype rs4253778 | Phenotype | Recommendation |
| GG | [Advantage] More likely to have better endurance [Advantage] More likely to have more slow twitch fibers [Advantage] More likely to have better aerobic capacity [Advantage] More likely to have higher oxygen pulse | Likely better endurance Include plenty of endurance based activities like dancing and playing cricket into the fitness routine |
| GC | Moderate power and endurance | Likely better endurance Include plenty of endurance based activities like dancing and playing cricket into the fitness routine |
| CC | [Advantage] More likely to have better power [Advantage] More likely to have more fast twitch fibers [Limitation] More likely to have lower aerobic capacity [Limitation] More likely to have lower oxygen pulse | Likely better power Include power based activities like kicking a football and squats into the fitness routine |
“Nutrigenetics, 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.”
The Matrix Metalloproteinase 3 (MMP3) gene is associated with the synthesis of matrix metalloproteinase 3 (also called Stromelysin-1), an enzyme which is associated with the breakdown of extra cellular matrix during the normal physiological process. MMP3 is required to maintain Extra Cellular Matrix (ECM) homeostasis and it contributes to the material integrity, as well as the mechanical properties of tendons. An elevated expression of the MMP3 gene has been shown to be associated with increased degeneration of the matrix, resulting in an imbalance, with a greater rate of degradation when compared to the synthesis.
There are two single nucleotide polymorphisms associated with this gene, rs679620 and rs3025058. People with the G variant (rs679620) of this gene are shown to be associated with increased level of MMP3 expression. Variants of the gene are shown to be associated with changes in the extracellular matrix which affects the risk of muscle injury and the wound healing.
| CHIP Version | MMP3 SNPs |
| 23andMe (Use your 23andme raw data to know your MMP3 Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA (Use your ancestry DNA raw data to know your MMP3 Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA (Use your FTDNA raw data to know your MMP3 Variant) | |
| OmniExpress microarray chip | Present |
The Achilles tendon is the largest tendon in the body, connecting the heel bone to the calf muscle. It is used while walking, jumping or running. An injury in the Achilles tendon, called Achilles tendinopathy, can be painful and is a big hindrance to athletes. A study conducted on South African athletes showed that the two SNPs G variant (rs679620) and 5A variant (rs3025058) were associated with Achilles tendinopathy. In another study conducted on Caucasians, people with the G variant (rs679620) were shown to be significantly associated with an increased risk for Achilles tendinopathy. In another study that analyzed the influence of MMP3 gene on Achilles tendon pathology, the G variant of the gene was found to be over represented in people with Achilles tendon rupture. In a study conducted on people with anterior cruciate ligament injuries, people with the 5A variant were shown to be overrepresented.
| Genotype (rs679620) | Phenotype | Recommendation |
| AA | [Advantage] More likely to have lower level of MMP3 enzyme [Advantage] Less likely to develop Achilles tendinopathy [Limitation] Likely to have higher risk for post operative stiffness | There is low risk of injury, which would allow active participation in various sports, provided other genetic factors also indicate a low risk. |
| AG | Moderate stiffness on rotator cuff injury repair | There should be increased period of rest between training sessions to lower risk of injury |
| GG | [Limitation]More likely to have higher level of MMP3 enzyme [Limitation] 2.5 times more likely to develop Achilles tendinopathy than people with the A variant [Advantage] Likely to have lower risk of post operative stiffness | There should be increased period of rest between training sessions to lower risk of injury |
“Nutrigenetics, 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.”
The Tumor Necrosis Factor Alpha (TNFA) gene is associated with the synthesis of TNFA, a pro-inflammatory cytokine that regulates immune responses such as inflammation. Specific alleles of this gene are known to either increase or decrease the levels of TNFA. People with the A variant of the gene are found to synthesize more TNFA which affects fatigue, inflammatory response, diabetes and cardiovascular risk and response to training.
People with the A variant require longer recovery times compared to people with the G variant. A study which was part of the HERITAGE study measured CRP before and after an endurance training programme lasting 20 weeks. The baseline CRP levels were higher among people with the A variant when compared to people with the G Variant. After the training programme, there was a higher increase in CRP among people with the A variant than among people with the G variant. This shows that people with the A variant required longer recovery periods in between intense exercise. A study conducted to identify the association between physical exercise and anti-inflammatory response found that polymorphisms in TNFA gene was associated with the levels of serum C reactive protein after moderate to vigorous physical activity. People with the G variant had a greater decrease in C reactive protein upon physical activity than people with the A variant.
| CHIP Version | TNFA SNPs |
| 23andMe (Use your 23andme raw data to know your TNFA Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA (Use your ancestry DNA raw data to know your TNFA Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA (Use your FTDNA raw data to know your TNFA Variant) | |
| OmniExpress microarray chip | Present |
In a study conducted on the influence of TNFA gene polymorphisms on fatigue, people with the A variant of the gene were associated with increased sleep disturbance and fatigue than people with the G variant. In another study conducted on elderly women, people with the G variant had a better physical performance independent of their exercise modality.
Association with Cholesterol levels In a study aimed at understanding the metabolic response of people on a high protein/low carbohydrate diet showed that people with the GG genotype had a greater reduction in total cholesterol, triglycerides and LDL cholesterol.
In a study conducted as a part of the Finnish Diabetes Prevention Study, the presence of the A variant was shown to be a predictor for the conversion from Impaired Glucose Tolerance (IGT) to type 2 Diabetes. Another study showed that the presence of the A variant of the gene was associated with an increased risk for diabetes and higher glucose levels in the body.
In a study conducted on postmenopausal women, people with the A variant were associated with increased risk for osteoporosis. Higher levels of cytokines lead to an increase in bone breakdown.
People with the A variant were shown to have an increased risk for acute myocardial infarction.
| Genotype rs1800629 | Phenotype | Recommendation |
| AA | [Limitation] More likely to have higher TNFA level [Limitation] More likely to have higher levels of inflammation after intense exercise [Limitation] More likely to require longer period of recovery [Limitation] More likely to have higher level of fatigue [Limitation] More likely to have higher risk for Diabetes [Limitation] More likely to have higher risk for Myocardial Infarction [Limitation] More likely to have lower reduction in triglyceride, cholesterol levels on a high protein/ low carbohydrate diet | Likely to have lower reduction in inflammation upon exercising than G variants. Increased risk for fatigue post exercises requires optimum periods of rest between repetitions Include 3g of Omega 3 fatty acids in the diet which is found to lower the levels of inflammation |
| AG | Moderate level of C reactive protein and more likely to have moderate level of risk for diabetes | Likely to have lower reduction in inflammation upon exercising than G variants. Increased risk for fatigue post exercises requires optimum periods of rest between repetitions Include 3g of Omega 3 fatty acids in the diet which is found to lower the levels of inflammation |
| GG | [Advantage] More likely to have normal level of TNFA [Advantage] More likely to have lower levels of inflammation after intense exercise [Advantage] More likely to require shorter period of recovery [Advantage] More likely to have lower level of fatigue [Advantage] More likely to have lower risk for Diabetes [Advantage] More likely to have lower risk for Myocardial Infarction [Advantage] More likely to have higher reduction in triglyceride, cholesterol levels on a high protein/ low carbohydrate diet | Likely to have higher reduction in inflammation upon exercising Include Omega 3 fatty acids in the diet |
“Nutrigenetics, 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.”
The Calcium sensing receptor (CASR) gene is associated with the synthesis of Calcium sensing receptor, a receptor that binds to calcium present in the blood.
Specific alleles of this gene are known to either increase or decrease the sensitivity to calcium.
Variants of the gene are shown to be associated with the levels of Calcium, Magnesium, and Phosphate in the blood.
There are two single nucleotide polymorphisms that have an association with this gene; rs17251221 and rs1801725.
The CASR protein is present on the cells of the parathyroid glands, which are associated with the secretion of the parathyroid hormone.
This hormone transfers calcium from the bone into the blood, with bones acting as storage centers for calcium.
When calcium levels are high, the level of parathyroid hormone are low.
This facilitates increased binding of calcium to CASR receptors in kidney.
This ultimately leads to more removal of calcium via kidneys.
| CHIP Version | CASR SNPs |
| 23andMe (Use your 23andme raw data to know your CASR Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA (Use your ancestry DNA raw data to know your CASR Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA (Use your FTDNA raw data to know your CASR Variant) | |
| OmniExpress microarray chip | Present |
In a genome wide association study, it was found that the SNP rs1801725 had a strong association with people of European descent while the SNP rs17251221 had a strong association with people of Indian Asian descent. These two SNPs are found to be in high linkage disequilibrium with each other. Another study showed that people with the G variant (rs17251221) of the gene were associated with increased calcium levels. Each copy of the G allele increases Calcium levels by 0.06 mg/dl.
People with the G variant (rs17251221) of the gene were associated increased magnesium levels in the serum.
People with the G (rs17251221) variant of the gene are shown to be associated with decreased Phosphate level in the serum. Increased secretion of the parathyroid hormone which results in elevated calcium levels is associated with decreased phosphate levels due to the phosphaturic effect.
People with the G variant were associated with a higher risk of stone multiplicity.
It is important to choose an appropriate diet based on the genetic profile.
| For people with G (rs17251221) Likely to have increased serum calcium and serum magnesium level. Likely to have decreased serum phosphate level Include 600mg/day of phosphorous from pumpkin seeds, salmon, brazil nuts and shellfish. |
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| For people with A variant (rs17251221) Likely to have decreased serum calcium and serum magnesium levels Likely to have increased serum phosphate levels Include 40-500mg of calcium per day |
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| For people with T (rs1801725) Likely to have increased serum calcium level |
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| For people with G variant (rs1801725) Likely to have decreased serum calcium Include 40-500mg of calcium per day |
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