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nutrient-gene interactions
can turn genes on and off
single gene defects
related to hundreds of diseases - including
PKU (phenylketonuria)
Cystic fibrosis
Sickle cell anemia
Hemochromatosis
(but most diseases are a combination of multiple genes and the environment)
polygenic defects
multiple genes
include - heart disease, cancer, hypertension, obesity
heart disease
high cholesterol diets → plaques in some people (not everyone is susceptible to plaque formation), diets low in folate and vegetables increase risk (some may be at increased risk of a heart attack, others will be fine)
genetic and environmental influence
cancer
environmental vs. genetic influence differs by site
Endometrial (environment influence = 90%, rest is genetic)
Stomach (72%)
Prostate (42%)
hypertension
salt sensitivity - eating too much salt usually increases blood pressure but not in everyone, salt sensitive or salt resistant people
High sodium → whole population should decrease their sodium intake because we don’t know who is salt sensitive vs salt resistant
genetic and environmental influence
obesity
over 250 genes associated with development (very complex) + environmental influence
celiac disease
an autoimmune disease that damages the small intestine, immune reaction to gluten (a protein)
Gluten is in wheat, barley, and rye
When people with celiac disease consume gluten, the immune system attacks and destroys the villi
Villi are not finger-like, they look like shaved off
Oats - often manufactured where wheat and barley are, people often buy gluten-free oats to ensure no cross-contamination
where is gluten found
wheat, barley, rye
cross contamination can be found in oats (often manufactured where wheat and barley are, people often buy gluten-free oats to ensure no cross-contamination)
genetic link of celiac disease
Celiac disease occurs in genetically predisposed people
HLA genes (human leukocyte antigen)
risk versions = DQ2 or DQ8
Responsible for how the immune system distinguishes between the body’s proteins and foreign proteins
DQ2/DQ8
risk versions of HLA genes
~99% of people with celiac disease have these gene variants
Risk version, but don’t develop the disease
Interaction of gene and environment (foods you eat, viruses, other genes)
But 30% of the general population have the risk version, so development of the disease is dependent on the combination of risk variants & other gene or environmental factors
symptoms of celiac disease
Hard to diagnose because there are many symptoms, and symptoms vary
Classic symptoms - headache, fatigue, abdominal pain and bloating after consuming products with gluten, weight loss, diarrhea, constipation, foul-smelling stools
Weight loss and diarrhea usually cause people to go to the doctor - especially in children (children should always be growing)
celiac disease in Canada
1% of population is affected
genetic component of celiac
if a first degree relative has celiac disease, 1 in 10 chance family member will develop it (HLA genes)
testing for celiac
blood test, small intestine biopsy, genetic screening for DQ2 and DQ8
blood test for celiac
tTG-IgA (tissue transglutaminase antibodies), must be on a gluten-containing diet
Must be experiencing symptoms on a gluten diet for 6-8 weeks before the biopsy, eat 4-6 slices of bread per day
Now modified gluten challenge - 2-4 weeks, eat 1 ½ slices of bread per day (enough for diagnosis)
small intestine biopsy
most definitive for diagnosing celiac, can see histology of the small intestine villi
genetic screening for celiac
can screen for risk variants DQ2 and DQ8
celiac commonly mistaken for
IBS (irritable bowel syndrome)
Crohn’s disease
why would you want an accurate diagnosis?
long term consequences (malnutrition, infertility, osteoporosis)
Also at risk for developing more autoimmune diseases - T1 diabetes, multiple sclerosis
celiac varies in people - some people are very sensitive to cross contamination
non-celiac gluten sensitivity
develop symptoms when they consume gluten-containing foods and feel better on a gluten-free diet but do NOT have celiac disease
There are no biomarkers for diagnosis
Autoantibodies (TTG, EMA, DGP) are absent
There is no villous atrophy - villi not destroyed
higher % of people have this over celiac
Other compounds in wheat, barley, and rye may trigger symptoms (e.g. proteins called amylase/trypsin inhibitors or fermentable carbohydrates)
is eating gluten free healthy for everyone?
NO, Canadian Celiac Association - word of caution
You shouldn’t self-diagnose yourself
Going on a gluten-free diet should be because of a medical diagnosis
If you do have celiac disease, it needs to be medically monitored, don’t go undiagnosed
Gluten-free foods in the market are highly processed and have many preservatives/colourants, stripped of fiber, need another source of fiber
nutrigenetics
The study of how genes and diet interact to increase or decrease someone’s risk for disease
Gene and environment interactions
Play a role in “personalized nutrition”
What biological sample do you need for nutrigenetics? = DNA (saliva)
genetic testing
ancestry services, some companies specialize in nutrition-related genetic traits
ancestry services
Can purchase basic ancestry, or health + ancestry, e.g. 23andMe
Report on global ancestry (% of countries that share DNA sequences), relatives, at risk diseases, muscle composition
You will have to consent to learn about more serious genes - e.g. BRCA genes for breast cancer, Celiac, Alzheimer’s, Parkinson’s
Because you will have to take more serious steps once learning if you have them or not
nutrigenomix
a Canadian company that specializes in nutrition-related genetic traits
Specific for genetics that are linked to nutrition
70 genetic markers that they look at
More expensive ~$350 CAD
Registered dietitian to give report
Health test, sport test, fertility test
food selection
Food preferences largely learned
80 genes that help taste bitter foods
Some are highly sensitive to bitter foods, genetically determined
If vegetables taste bitter → will eat less
Bitter compound paper (PTC) - taste it on the tongue for the bitter taste receptors, some may taste paper, others taste
“Supertasters” - small percentage, find it disgusting
future consideration
Moving towards individualized dietary prescriptions
Complete profile with genetic risks, gut microbiota profiles, etc.