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HEALTHY EATING

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 miscarriag-es, 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 nutrient-rich diet. Since starting the regimen, she says shes noticed a marked

By Julie kendrick

A 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 unlucky mystery.

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 integra-tive 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 methylene-tetrahydrofolate reductase (MTHFR), a vitamin-dependent enzyme.

improvement in her mood, energy, and clarity of mind.

Sadly, the information about her SNP came too late to support a suc-cessful 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 par-ents 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.

Making Sense ofSNPs Small genetic variations can have a big influence on your health and affect your nutritional needs, too.

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(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 popula-tion. 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 DietThe 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 indi-vidual nutrition and lifestyle needs.

The science of nutrition has his-torically 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 dif-ference 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

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 asymp-tomatic in the past and are now found to be predisposing us to disease in the current environment.

Personalized NutritionOur 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 National Academies.

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 organi-zation 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 individu-als, 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 PlansOf course, no ones overall health is determined solely by his or her genetics.

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 disor-ders, 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 pro-gram allows each cell to perform in the correct way in the correct situation.

Its a continuous flow of informa-tion 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,

Knowing more about your SNPs can help you make choices to promote overall health.

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SNP ASSOCIATED GENE

HOW COMMON IS THIS SNP?

KNOWN HEALTH IMPLICATIONS

NUTRITIONAL CONSIDERATIONS

MTHFR Methylenetetra-hydrofolate 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 neural-tube 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 fac-tors, 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 anti-oxidant effects. Avoid alcohol and smoking.

BRCA1 BRCA2

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

While considered mutations among the general popula-tion, 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 ovar-ian 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 associ-ated with variations in these genes has increased, says Jeffrey Bland, PhD, suggest-ing 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 sweeten-ers, 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.

SNPs and NutritionDeveloping 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.

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there is often a specific and detailed list of nutrients and foods that can markedly improve the trajectory to health.

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 UnderstandingThe 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 experienc-ing transformative levels of change all the time, but our current genetic test-ing methods are still limited in provid-ing truly useful information to indi-viduals 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.

WEB EXTRA!Dont know a gene from a nucleotide? See our genetics glossary at ELmag.com/snps.

Should I Get Genetic Testing (Even If Im Healthy)?

It 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.

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