Vitamins
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©2015 Molecular Testing Labs 0301502620
The GC gene, located on chromosome 4 (4q12-q13) codes for Group Specific Protein (vitamin D binding
protein, DBP). It is in the albumin family of proteins and binds to vitamin D and its metabolites and
transports them to the target tissues. It also serves as a macrophage activating factor (MAF) and thus plays
at least some role in the immune system and the protection from infections and various cancers. Interindividual
vitamin D levels can vary significantly. Only approximately 25% of this variability can be attributed
season, geographical location and vitamin D intake. Likely 50% or more of the variability between individuals
is attributable to genetic factors, and this allele is one of the mostly strongly correlated with vitamin D levels
and even the development of rickets in some populations.
Test Result: Heterozygote: GT
Frequency: 34.9% (14.2% in Blacks)
Implications: This genotype is associated with a decrease in plasma vitamin-D level of approximately
10% even when corrected for other factors.
intergenic Gene Group:Vitamins
rs12272004 vitamin E levels, tocopherols
An intergenic area is a stretch of DNA between known genes and usually is composed of non-coding DNA.
Intergenic areas are thought to comprise 80-90% of the human genome and likely to contain various
promoters and enhancers. This particular SNP (rs12272004) lies close to the APOA5 gene, located at
chromosome 11q23. The APOA5 gene codes for a protein, apoprotein A5 which is involved in lipid
metabolism and the levels of triglycerides and chylomicrons. Vitamin E is a fat soluble vitamin and consists of
eight related tocopherols of which α-tocopherol has the highest bioavailability. The correlation of vitamin E
intake and plasma levels is very poor, indicating that genetics may be a strong factor in the level of α-
tocopherol. The presence of an A allele at this position in this Intergenic region has a very strong association
with α-tocopherol levels. This association is specific for α-tocopherol and does not extend to γ-tocopherol. It
is important to note that this correlation is attenuated when corrected for the triglyceride level implying a
possible correlation of relatively elevated triglyceride levels with the elevated α-tocopherol levels associated
with this SNP.
Test Result: Wildtype: CC
Frequency: 86.1%
Implications: This genotype is associated with “normal” levels of α-tocopherol with no expected effect
on triglyceride level.
MTHFR677 Gene Group:Vitamins
rs1801133 folate levels
The MTHFR gene is located on chromosome 1 (1p36.3) and codes for an enzyme, methylenetetrahydrofolate
reductase. This enzyme figures prominently in methylation in the body and a major function is to methylate
folate to 5-methylfolate, the most active form of folate (vitamin B9). This active form is a pathway whereby
homecysteine is converted to methionine. Homocysteine is potentially cytotoxic and high levels have been
associated with increased risk of cardiovascular disease. Consequently, this particular substitution results in
decreased methylation activity and an increased homocysteine activity, particularly pronounced in
individuals with low levels of folate in their diet. There is also an increased risk of a number of other
disorders in individuals that carry this substitution, at least some of which can be ameliorated by dietary
Vitamins
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©2015 Molecular Testing Labs 0301502620
intervention. These disorders cover a range including tongue tie, spina bifida, various mental disorders, birth
defects and some cancers.
Test Result: Heterozygote: GA
Frequency: 39.7% (53.0% in Hispanics)
Implications: These individuals typically have 65% of the enzyme’s normal activity. Homocysteine
levels are frequently in the normal range, but are found to be relatively low with low levels of dietary folate
compared to individuals homozygous for the wild type allele who have similar intake levels of dietary folate.
Dietary intervention is likely to maintain normal folate levels and reduce the risk back towards normal for
the associated disorders.
NBPF3 Gene Group:Vitamins
rs4654748 vitamin B6 level, pyridoxine
The NBPF3 gene, located on chromosome 1 (1q21.1) codes for neuroblastoma breakpoint family, member 3.
A specific function for this protein has not been determined but it is felt to be a factor in cognitive
development because of its large expansion in humans, and to a lesser extent in primates. It is a factor in a
number of developmental and neurogenetic disorders such as microcephaly, macrocephaly, autism,
schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and
urinary tract anomalies. Altered expression of some gene family members is also associated with several
types of cancer and it is suspected that it may serve as a tumor suppressor gene. This particular substitution
is associated with pyridoxine (vitamin B6) levels.
Test Result: Mutant: TT
Frequency: 19.9% (1.2% in Blacks)
Implications: Plasma (vitamin B6) pyridoxine levels are normal (nl 5-24 ng/mL)
Exercise
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©2015 Molecular Testing Labs 0301502620
ACTN3 Gene Group:Exercise
rs1815739 "fast" glycolytic muscle fibers
The ACTN3 gene, located on chromosome 11 (11q13.1), codes for a muscle protein, α-actin-3, which is found
almost exclusively in fast glycolytic Type II fibers which are important in strength based, “explosive” muscle
movement. A mutation here indicates decreased α-actin-3 and a preponderance of slow Type I fibers. There
is some evidence that Type I muscle fibers are better suited to endurance type sports. There is little evidence
distinguishing an individual with either of these genotypes from the general population, but there is a clear
distinction when comparing the genotypes of elite and Olympic level athletes in endurance sports from that
of those athletes in strength based sports. It is important to remember that fitness and training is
multifactorial and any one gene is unlikely to contribute more than a few percent to individual variability in
response to training.
Test Result: Wildtype: CC
Frequency: 40.0% (77.6% in Blacks)
Implications: Positively associated w/ elite, power oriented athletic status; includes sports such as
sprinting, weight lifting; higher percentage of Type II glycolytic "fast twitch" muscle fibers; elite level power
athletes almost twice as likely to have CC (RR) as compared to TT (XX)
EDN1 Gene Group:Exercise
rs5370 hypertension response to physical activity
The EDN1 gene, located on chromosome 6 (6p24.1), codes for a protein, preproendothelin-1, which is
proteolytically processed by the vascular endothelium to yield a potent vasoconstrictor endothelin-1. This
maintains the vascular tone which regulates blood pressure. The allele in question has a number of
associations including an increased risk of idiopathic pulmonary arterial hypertension (IPAH), increased
damage following strokes but a protective effect against diabetic retinopathy.
Test Result: Heterozygote: GT
Frequency: 34.0% (42.7% in Chinese)
Implications: The presence of one T allele indicates a risk of hypertension almost twice that of the
normal population. This increased risk is greatest in individuals who are overweight or have a low
cardiovascular fitness level. There is no increased risk in individuals with a high level of cardiovascular
fitness. In some studies, the T allele has also shown an association with a decreased HDL level in women.
INSIG2 Gene Group:Exercise
rs7566605 increased sub-q fat w/ resistance training
The ISIG2 gene codes for insulin induced gene-2 protein and is located on chromosome 2 (2q14.2). This
protein is located on the endoplasmic reticulum and is involved in energy metabolism. Some studies have
shown an increased BMI, particularly in females, when the allele is present but this has been a weak
association. It may be associated with a slight increase in cholesterol levels. At most, the presence of the
altered allele here accounts for 1.1% of individual genotypic variability in subcutaneous fat content.
Test Result: Wildtype: GG
Frequency: 50.0% (64.2% in Blacks)
Exercise
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©2015 Molecular Testing Labs 0301502620
Implications: Men showed an increase in upper arm intramuscular fat following training and this
persisted at least as long as a year. At the same time, there was a decrease of subcutaneous fat.
LIPC Gene Group
iet, Exercise
rs1800588 training induced changes in HDL and VLDL
The LIPC gene, located on chromosome 15 (15q21-q23), codes for an enzyme, hepatic triglyceride lipase
(HL), that is active in the liver and to a lesser extent in the adrenals. High HL activity is associated with
increased body fat, lower HDL and higher LDL levels. This implies that as body fat increases, so does HL
activity which is accompanied by a rise in LDL (bad cholesterol) and a decrease in HDL (good cholesterol). The
presence of this mutation attenuates the rise in HL activity with increasing body fat, but potentiates the rise
in total cholesterol and triacylglycerol (TAG) with high fat intake.
Test Result: Wildtype: CC
Frequency: 42.4% (22.4% in Blacks)
Implications: These individuals tend to have a higher LDL and a lower HDL levels than individuals who
carry the substitution. On the other hand, their total cholesterol and TAG do not rise as quickly with high fat
intake as they do in individuals who carry the substitution. Your insulin sensitivity is likely to benefit more
from regular exercise than with the substituted allele.
LPL Gene Group:Exercise
rs328 lipid levels, body fat
The LPL gene, located on chromosome 8 (8p22), codes for lipoprotein lipase. This enzyme is found attached
to the luminal surface of vascular endothelial cells in the heart, muscle and adipose tissue and plays a role in
transporting fats and breaking down lipoproteins. It is responsible for breaking down triglycerides and
releasing fatty acids into the system. A defect in this enzyme is responsible for Type I familial
hypertriglyceridemia. The presence of the rs328 allele is associated with a lower plasma triglyceride level
and higher HDL cholesterol level. Similar correlations are also seen with certain SNPs in the CETP, LIPC,
HNF4A and APOIA5 genes.
Test Result: Heterozygote: CG
Frequency: 16.3%
Implications: The heterozygous substitution is associated with slightly lower triglyceride and slightly
higher HDL-cholesterol levels. This effect is diminished with elevated omega-6 fatty acids. At least in women,
body fat content and fat distribution may be more responsive to endurance training than individuals with
the wildtype configuration.
MMP3 Gene Group:Exercise
rs679620 Achilles tendinopathy, ACL rupture
The MMP3 gene, located on chromosome 11 (11q22.3), codes for the enzyme matrix metallopeptidase 3. It
is secreted as a pre-protein which must be cleaved to become active. The enzyme by its action of degrading
cartilage and similar tissues is involved in wound repair, tumor initiation, atherosclerosis and other actions.
This allele also seems to have a mild protective effect on the diastolic blood pressure but only in black
women.
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