HEALTHY EATING

NUTRIENTS / CONFIDENT COOK / HONESTLY, DARA / WORTHY GOODS

Making
Sense of

SNPs
Small genetic variations can
have a big influence on your
health and affect your
nutritional needs, too.
By Julie Kendrick

ILLUSTRATIONS: STUART BRADFORD

pril had suffered two

devastating miscarriages
in less than two years.
Otherwise in good
health, she insisted on a complete
medical workup at a major hospital.
The doctors could find nothing
wrong with her, so they deemed her
miscarriages an unluckymystery.
My husband and I stopped trying
to get pregnant at that point, says
April, who asked that her real name
not be used. One doctor said we
should just think about it as a swing
and a miss. But we couldnt face
another loss like that.
Several years later, dealing with a
different health concern, April had a
comprehensive exam with an integrative physician who recommended
both a nutritional screening and a
genetic panel that examined her DNA.
The panel revealed two variations in
a gene thats responsible for methylenetetrahydrofolate reductase (MTHFR),
a vitamin-dependent enzyme.

The type of gene variation April

has is called a single nucleotide
polymorphism, or SNP (pronounced
snip). People with a SNP on the
MTHFR gene arent able to process
certain B vitamins and folate properly,
and can suffer a number of health
issues as a result.
I learned that the SNP I carried
has been linked to neural-tube defects
in fetuses that can lead to miscarriages, says April, whose labs confirmed
significant B-vitamin deficiencies.
April also learned that MTHFR
SNPs are surprisingly common half
of us carry at least one variant on the
MTHFR gene.
People with this SNP are often
advised to increase their intake of
B-rich foods and to take activated
(methylated) forms of B12 and folate
rather than standard supplements.
April now takes these supplements
daily in addition to eating a nutrientrich diet. Since starting the regimen,
she says shes noticed a marked

improvement in her mood, energy,

and clarity of mind.
Sadly, the information about her
SNP came too late to support a successful pregnancy. Its such a shame
I didnt know this back then, says
April, now 48. It could have changed
the outcomes of those pregnancies,
and I might be a mom now.

Whats in Our Genes?

Existing cells within our bodies divide
to make new cells, copying our DNA
structure along the way. Frequently,
though, blips occur in which a single
nucleotide a building block of DNA
is substituted with another during
the copying process. The resulting
variations are SNPs.
SNPs are passed down from parents to children, and these small
variations can have big impacts.
With an estimated 10 million SNPs
in the human genome, these variants
account for roughly 90 percent of
human genetic variation.
ExperienceLife.com / EXPERIENCE LIFE / 39

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NUTRIENTS

(Though the terms are often used

interchangeably, even by scientists,
SNPs are not the same as mutations.
Both SNPs and mutations involve
some alteration of basic genetic code,
but SNP variations are present in at
least 1 percent of a given population
while mutations are much rarer.)
Though most SNPs have no
discernible health effects, some can
increase the likelihood of certain
diseases and can affect the way a
person metabolizes nutrients or
responds to drugs, viruses, bacteria,
and environmental toxins.
Scientists have identified several
health-affecting SNPs present in small
but significant subsets of the population. For example, some variations
(including SNPs and mutations) that
affect the BRCA1 and BRCA2 genes
are linked to breast and ovarian
cancer. SNPs in the apolipoprotein
E (ApoE) gene are often associated
with cardiovascular conditions and
Alzheimers disease. MTHFR SNPs
have been linked with depression,
addiction, miscarriage, and Parkinsons
disease. (For details on these SNPs,
see SNPs and Nutrition, next page.)

Connecting SNPs and Diet

The identification of Aprils SNPs
and her nutrition-centric solution
represents an emerging understanding
of the unique ways each of us responds
to our environment, including how our
genetic makeup influences our individual nutrition and lifestyle needs.
The science of nutrition has historically been focused on preventing
and treating diseases caused by a
deficiency of vitamins and minerals.
But the alarming rise of diet-related
disease has triggered the study of
nutrient-related interactions at the
gene, protein, and metabolic levels.
The new field of nutrigenomics
explores the ways individual genetic
variations can affect a persons response
to nutrients. Research in this area is
illuminating how SNPs can make a difference in everyday health and function.
Every generation is the source of
a few more SNPs in our genome, but
many of those SNPs have remained
silent for years, explains Jos
40 / EXPERIENCE LIFE / October 2015

Ordovs, PhD, director of nutrition

and genomics at the USDA Human
Nutrition Research Center on Aging
at Tufts University.
Modern-day stressors from
foods, toxins, and lifestyle have
turned on the negative effects of
some of those SNPs that were asymptomatic in the past and are now found
to be predisposing us to disease in the
current environment.

Knowing more
about your SNPs
can help you make
choices to promote
overall health.
Personalized Nutrition
Our growing understanding of
genetic variety casts even greater
doubts on the appropriateness of
one-size-fits-all recommended daily
allowances (RDAs) the average
amount of nutrients declared
necessary for maintenance of good
health by the Food and Nutrition
Board of the Institute of Medicine of
the NationalAcademies.
As we begin to understand nutri
genomics and study SNPs, what we
recognize is that the differences from
one person to another may be much
greater than previously thought, says
Jeffrey Bland, PhD, author of The
Disease Delusion and founder and
president of the Personalized Lifestyle
Medicine Institute, a nonprofit organization for patient-activated healthcare.
Whats adequate for some would
be nutrient deficient for others, he
says. Our needs are based on our
unique genetics, so the idea of one
recommended level of nutrition is
becoming outdated.
Ordovs believes that RDAs are a
good starting point for most individuals, but he agrees that the approach
has limits. Its very difficult to
account for all the particular needs

of each individual, considering the

different environments to which we
are exposed and the different stages
of life were in, he says. We need to
consider the individual heterogeneity
of genetic variation and move toward
more personalized nutrition.

SNP Action Plans

Of course, no ones overall health
is determined solely by his or
hergenetics.
Its important to remember that
each of us carries more than 3 million
SNPs, and most of those genetic
variants are really quite common,
says Stephan J. Sanders, PhD, assistant
professor and genetic researcher at the
University of California, San Francisco.
He points out that most common
disorders or chronic conditions, such
as obesity or heart disease, do not
have a single specific genetic cause.
Rare is the gene and SNP that
operates in isolation.
When it comes to complex disorders, its not a simple case where one
gene causes one disorder, Sanders
says. He likens our DNA to a computer
program that interacts with our cells
and with the environment. This program allows each cell to perform in
the correct way in the correct situation.
Its a continuous flow of information back and forth. If you change one
component, youll change many aspects
of what that program might do.
Indeed, it appears that we can,
in some cases, repair or reverse the
negative impact of a SNP through
carefully targeted lifestyle and
nutritional solutions.
Genetics might load the gun, but
environment can pull the trigger, says
P. Michael Stone, MD, MS, IFMPC, a
family physician in Ashland, Ore., and
a faculty member at the Institute for
Functional Medicine.
Focusing your eating to support
your unique genetic makeup and
account for its potential weaknesses
can be one way to set the safety on
that gun, he explains.
We know that, for virtually any
condition, there can be improvement
with nutritional intervention. And if
we know more about a persons SNPs,
(continued on page 42)

SNPs and Nutrition

Developing nutritional therapies for specific SNPs will be a challenge for researchers and clinicians for many years to come. The
nutritional implications of some SNPs, like those below, are at least partially understood; but there are millions more that have
not yet been examined. In all cases, science is just beginning to scratch the surface, and counsel is considered speculative.
Still, knowing your specific genetic profile can be beneficial. If you have a SNP that predisposes you to inflammatory
conditions, for instance, you can take precautionary measures by embracing an anti-inflammatory diet and working with
your healthcare provider to monitor biomarkers related to inflammation. Knowing your SNPs may also help motivate you to
adjust your lifestyle in ways that maximize resilience and immunity.
SNP

ASSOCIATED
GENE

HOW COMMON
ISTHIS SNP?

KNOWN HEALTH
IMPLICATIONS

NUTRITIONAL
CONSIDERATIONS

MTHFR

Methylenetetrahydrofolate
reductase

Up to 50 percent of
people carry at least
one variant on the
MTHFR gene.

MTHFR SNPs can reduce

the bodys ability to
activate and assimilate
folic acid and other B
vitamins, contributing to
greater risk for neuraltube defects, leukemia,
Alzheimers disease,
depression, and other
chronic health conditions.

Eating folate-rich vegetables

can make a difference in
many peoples MTHFR
symptoms. Activated
B-vitamin supplements
(containing methylfolate
and methyl B12) provide
more bioavailable nutrients
than can be found in regular
supplements or standard
helpings of whole foods.

ApoE4

Apolipoprotein E

One to 2 percent of
people carry two E4
alleles (variant forms
of a gene located
along a chromosome);
for these people, the
risk of Alzheimers
disease is 15 times
greater than for those
who inherit ApoE3
from both parents.
About 30 percent of
Alzheimers disease
patients have at least
one copy of ApoE4.

ApoE provides instructions

for making a protein
that assists in carrying
cholesterol and other fats
through the bloodstream.
The E4 version of the
gene is associated with
increased total serum
cholesterol, coronary heart
disease, and late-onset
Alzheimers disease.

Some experts suggest that

pro-inflammatory dietary factors, such as sugars, flours,
starches, and processed
foods, could pose a special
risk to people with this SNP.
To reduce inflammation in
your body, increase your
intake of fresh vegetables
and fruit; season foods with
turmeric and cumin; and drink
green tea, which is rich in
EGCG, a polyphenol with antioxidant effects. Avoid alcohol
and smoking.

BRCA1
BRCA2

Breast cancer
1, early onset;
Breast cancer 2,
early onset

While considered
mutations among
the general population, variations in
these genes occur
frequently enough in
some groups to be
considered SNPs. Five
to 10 percent of breast
cancer occurrences
and 15 percent of ovarian cancers are related
to variations in BRCA1
and BRCA2 genes.

A variation in these genes

can negatively influence
DNA repair and increase
susceptibility to breast or
ovarian cancer in women,
and prostate cancer in men.
Over the past 50 years, the
incidence of cancer associated with variations in these
genes has increased, says
Jeffrey Bland, PhD, suggesting they may be interacting
with environmental factors.

While the mechanisms by

which diet and lifestyle
factors may influence the
health of BRCA carriers are
not yet well defined, research
suggests avoiding foods with
added sugars and sweeteners, as well as processed
foods and any foods high in
refined carbohydrates. Limit
alcohol to no more than one
drink per day for women, or
two per day for men.

ExperienceLife.com / EXPERIENCE LIFE / 41

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(continued from page 40)

there is often a specific and detailed

list of nutrients and foods that can
markedly improve the trajectory
tohealth.
Stone says patients often arrive at
his clinic with the results from their
nutrigenomic testing panels in hand,
asking for help with what to do next.
To create effective action plans,
we look not just at their genetics
but also at their lifestyle, including
nutrition, sleep, relaxation, and
resilience, he says. Stone has
developed what he calls a therapeutic
alliance with in-clinic nutritionists to
help with diet change and education.
My job is the view from the
stethoscope, and their job is the view
from the fork; together we support
the patient in his or her healthy
nutrition and lifestyle changes.

A New Genetic Understanding

The study of genetics and its role
in human health is vast and, despite
exciting discoveries over the past
decade or so, still in its infancy.
Here at the intersection of
genetic testing and biomarker testing,
were on the verge of an incredible
transformation, says Bland.
Sanders agrees that there is a
positive message behind this ability to
receive personal genetic information,
but cautions us to remember that SNP
information is just one part of our
overall health and nutrition picture.
The field of genetics is experiencing transformative levels of change all
the time, but our current genetic testing methods are still limited in providing truly useful information to individuals about their own specific risks
for common disease, Sanders says.
Even so, Stone is a vocal proponent
of the positive lifestyle changes that
can be made as a result of genetic
testing. The importance of knowing
your SNPs lies in learning how to act
on the information, adjusting your
diet and lifestyle to your individual
needs, he says. Knowing more about
your SNPs can help you make choices
to promote overall health.
Julie Kendrick is a science writer based
in Minneapolis.
42 / EXPERIENCE LIFE / October 2015

Should I Get

Genetic Testing
(Even If Im Healthy)?

t depends. Remember that genetic variation is only one risk factor. So

having a specific gene variation doesnt necessarily mean you will get
a given disease and not having it doesnt mean you wont.
If you want to know if youre likely to develop heart disease, at
present SNPs can offer less useful information than an understanding of
your own family history, says Stephan Sanders, PhD. Those who really
want to learn more about disease risk factors might be better served by
having a conversation with their birth parents.
And theres the other side to consider: Its impossible to un-know the
information you receive through genetic testing, so consider in advance
whether youre really comfortable with the possible revelations.
Some people want to know as much as possible to help them make
highly informed health decisions, says Jeffrey Bland, PhD. But for others,
the results can produce anxiety and stress.

Where Can I Get Genetic Testing?

Your doctor may be able to order a genetic panel for you. In addition,
direct-to-consumer sources could be a starting place for your own personal
research. Here are just a few:
23andMe (www.23andme.com)
Genova Diagnostics (www.gdx.net)
Inherent Health (www.inherenthealth.com)
For more information, see the Federal Trade Commissions website at
www.consumer.ftc.gov/articles/0166-direct-consumer-genetic-tests.

My Test Revealed a SNP Now What?

Each of the labs listed above will provide a detailed interpretation of your
results, but you may also wish to consult a doctor who is familiar with
nutrigenomics for a personalized plan of action.
Because genetic testing is just one part of the equation of your overall
well-being, you and your physician may wish to schedule additional
biomarker testing to see how the gene variant is being translated within
your body. For example, your genetic tests may reveal a predisposition to
high cholesterol levels, but if you are already eating well, exercising, and not
suffering from a chronic infection or inflammation, your blood tests may
very well reflect cholesterol within acceptable ranges.
If youve already had DNA testing done and want to do more research
on your own, you can visit Promethease (www.promethease.com), a
literature-retrieval system that builds a personal DNA report based on
scientific literature and a file of DNA genotype data.

WEB EXTRA!

Dont know a gene from a nucleotide? See our

genetics glossary at ELmag.com/snps.