INTRODUCTION TO NUTRIGENETICS- GENES AND ITS FUNCTIONS

1. Ms. AT. AGILANDESWARI MSc., MPhil FSN
LECTURER
DEPARTMENT OF CLINICAL NUTRITION
GANGA INSTITUTE OF HEALTH SCIENCES
COIMBATORE

2. INTRODUCTION TO NUTRIGENETICS-
GENES AND ITS FUNCTIONS

5. PEA PLANT TRAITS

6. Genotype : describes the genetic data responsible
for making these observable properties
Phenotype : describes the observable properties eg:
height, color, amount of enzyme produced,
receptor etc
Genotype Vs Phenotype

7. Getting the basics right: The Genetic Book of Life
Book
23 chapters
Pages
Words
Letters
• Genome = Book
• Chromosomes = chapters
• DNA = Pages
• Genes = Words
• Nucleotides = Letters
• Spelling mistake = Genetic Variation

8. DNA: THE BLUE PRINT OF LIFE

9. The Life Process
THE GENE EXPRESSION

10. • All humans have the same
genes arranged in the same order.
• And more than 99.9% of our
DNA sequence is the same. What
makes us unique is the few
differences (known so far about
1.4 million) which makes each one
of us unique.
• On average, a human gene
will have 1-3 bases that differ
from person to person.
• These differences are
responsible for the change in
shape and function of a protein,
or they can change how much
protein is made, when it's made,
or where it's made.
VARIATIONS IN DNA MAKES US UNIQUE
Heterozygous
AA AG GG
Homozygous
5’...ACGTTAGACATAGACCTGGACAGTGCTGACGCTAGCTAGACAGTCG
3’...TGCAATCTGTATCTGGACCTGTCACGACTGCGATCGATCTGTCAGC
...ACGTTAGACATAGACCTGGACAGTGCTGACGCTAGCTAGACAGTCG
How many different
alleles could one
person have?
How many different
genotypes are possible
for two alleles (e.g. A,
G)?
3
2
How many different
alleles are possible?
A
G
C
T
4

11. Kinds of DNA sequence differences
SNVs:
A single-nucleotide variant; the presence in a population of
different nucleotides at homologous positions in two DNA
sequences.
Example: Individual 1: gatctttaaaagctagacttcaggggtt
Individual 2: gatctttaagagctagacttcaggggtt
A genetic difference created by insertion or deletion of one or a
more base pairs in a DNA segment
Indels:
Example: Individual 1: gatctttaaaagctagacttcaggggtt
Individual 2: gatcgtcactagacttcaggggtt

12. DNA Variations
Spelling mistakes are called Single Nucleotide Polymorphisms (SNPs)
APPLE APLLE
AGTC
AGTC
AGTC
AGTC
AGGC ---- SNPs ( Snips)
Substitution: Apple - Pineapple
Deletion: Without fat/ egg
Addition: Adding more milk
TYPES OF DNA VARIATIONS
© Geneobe 2017

13. SINGLE NUCLEOTIDE POLYMORPHISMS
Accounts for differences in hair color, intelligence, our disease risk, drug response, and
mainly how we respond to certain nutrients present in our foods and how we respond to
certain drugs.
Physical Appearance
Response to Nutrients
Disease Risks
© Geneobe 2017

14. SNP (‘snip’):
A single-nucleotide polymorphism; a SNV present
in ≥1% of the alleles in the population.
Example: agaccattgcccgagaggaagggttccggg
agaccattgcccgaggggaagggttccggg
Polymorphism: A genetic difference present in ≥1% of the alleles in the population.
Allele frequencies in populations
Rare variant: A genetic difference present in <1% of the alleles in the population.

15. The Human Genome
Project

18. The Era of
Personalised
Nutrition

19. NUTRIGENOMICS
• The study of the effects of diet on the activity of the individual’s
genes and health. Nutrigenomics is a field of science that, put simply,
focuses on nutrition and genomics.
• The connection between our health, genes, and diet is more
astonishing than we realized.
• Studies have found that food can actually
regulate genes which means genes can be
turned on or off.
• So, even though we may have inherited
certain genes from our parents, these genes
can remain dormant or active depending on
what we eat.

20. NUTRIGENETICS
The study of how genes
influence the way you respond to
certain nutrients present in foods.

21. Nutri +genetics = (personalised nutrition)
• AIMS TO UNTIE THE INTERACTIONS
BETWEEN NUTRIENTS AND GENES.
• IT IS MORE SPECIFIC IN NATURE.
INDIVIDUALS VARY IN THEIR
NUTRIENT METABOLISM AND
RESPONSE TO DIET.
• IT HOLDS THE POTENTIAL TO PROVIDE
BETTER NUTRITIONAL ADVICE TO
PREVENT OR TO OVERCOME DISEASE
RISKS.

22. Epigenetics
As an organism grows and develops,
carefully orchestrated chemical reactions
activate and deactivate parts of the genome at
strategic times and in specific locations.
Epigenetics is the study of these chemical
reactions and the factors that influence them.

23. Nutrition & the Epigenome
Nutrients from our food
funnelled into a
pathway that extracts
methyl groups and then
attaches them to our DNA.

25. + =
have control
today
THE ENVIRONMENT YOUR GENES YOUR HEALTH
http://www.niehs.nih.gov/health/topics/science/gene-env/
The Diet- Gene Interaction
NATURE VS NURTURE

27. The Science of Nutritional Genomics

29. NUTRIGENETICS AND GLYCEMIC RESPONSES

30. Gene and Nutrition

31. •FTO
Gene
Enocodes for
enzyme called α
ketogluterate
dihydrogenase
•It acts on hypothalamus
•leptin and insulin produces
α αmsh which binds with
FTO and gives satiety value
•ghrelin and leptin
stimulates AGRP which
binds with FTO to trigger
hunger
Mechanism •This gene is strongly related
with orexigenic action.
•The enzyme acts on the
hypothalamus during the
requirement and stimulates
the brain to pass command to
MC4R to trigger hunger
effect
•It also helps in feeling of
satiety.
Functions
•In the risk variant it
acts more on
orexegenic effect on
hypothalamus and
triggers hunger
effect but not the
satiety leading to
over eating
Risk Variant
FTO Gene(rs7903146) Intervention
Risk allele AA In the risk variant it acts more on orexegenic
effect on hypothalamus and triggers hunger
effect but not the satiety leading to over
eating
Leads to obesity and other metabolic
disorders.
• The FTO variant individual
have weight loss in response
to high protein diet
•The people carrying normal
allele respond to low protein
diet.
Normal allele CC Acts normal and regulates hunger and satiety

32. •FTO Gene
Enocodes for
enzyme called α
ketogluterate
dihydrogenase
•Enzyme catalyzes oxidative
reaction and regulates
demethylation of DNA and
RNA and stimulates the
hypothalamus to instruct
the hormones for epigenetic
regulation of controlling
appetite and satiety
Mechanism •This gene is strongly related
with orexigenic action.
•The enzyme acts on the
hypothalamus during the
requirement and and
stimulates the brain to pass
command to ghrelin to
trigger hunger effect
•It also helps in feeling of
satiety.
Functions
•In the risk variant
it acts more on
orexegenic effect
on hypothalamus
and triggers hunger
effect but not the
satiety leading to
over eating
Risk Variant
FTO Gene(rs9939609) Intervention
Risk allele AA In the risk variant it acts more on orexegenic
effect on hypothalamus and triggers hunger
effect but have low satiety leading to over
eating , Eating disorders, craving of foods
Leads to obesity,and other metabolic
disorders.
• The FTO variant individual
have weight loss in response
to high protein diet
•The people carrying normal
allele respondto low protein
diet.
•Low fat diet is recommended
for people arrying risk allele
Normal allele TT Acts normal and regulates hunger and satiety

33. AdipoQ Gene(rs17782313)
Intervention
Risk allele GG It leads to decrease in Adiponectin
which increases BMI that leads to
a higher risk for obesity and other
chronic diseases. Greater insulin
resistance increases risk for type 2
diabetes mellitus ,
Dyslipidemia,Hypertension, Stroke.
• A high-MUFA diet is
most beneficial for
carriers.
•They should avoid
high-fat (especially
saturated fat) and high
glycemic index foods.
• olive oil ,canola oil
,Eggs , Kidney bean
,Peanuts ,Soy bean
Normal
allele
AC It leads to increase in adiponectin
maintains BMI which prevents the
cause of obesity ,Insulin resistance
and Type2 Diabetes mellitus.
•ADIPOQ
Gene
Adiponectin
•Adiponectin travels through the
blood to reach the muscle and
liver cells initiates fat burning
+glucose utilization processes =
reduction of fat , improved
insulin sensitivity.
Mechanism
•Increases the
adiponectin level in
our Body
•Reduces Body Fat
•Improved insulin
sensitivity
•Maintains the BMI
Functions
•Increase in BMI
•Cause of T2DM,
Hypertension ,
Stroke, Obesity,
Dislipidemia.
Risk Variant.

34. EMOTIONAL EATING AND GENETICS

35. • APOE
Gene
Encodes for
apolipoprotein
• Transport of fatty acid
and cholestrol to the
tissues by the protein
lipoprotein .
Mechanism • APOE gene codes for
the formation of
apolipoprotein.
• Increase the HDL level
by decreasing the LDL
and VLDL level.
• Prevents and protects
the cardiovascular
system from CHD.
Functions
• E2 –E3 increased cholesterol
metabolism so reduced
cholesterol level.
• E3-E4 Reduced cholesterol
metabolism increased Cholsterol
level.
• It leads to hypertension,
Hypotension, Cardio vascular
disease.
Risk Variant
APOE Gene(E2, E3, E4) Intervention
Risk allele E2,E4
•The apolipoprotein fails to transport fatty acid
and cholesterol to the tissue by the lipoprotein
it leads to increase in cholesterol profile and it
leads to obesty, cardiovascular disease ,Etc.
•Alteration in normal cholesterol metabolism
•Risk types need to limit
or increase the intake of
dietary fat according to
their variant .
•Sholud have foods which
contain more of HDL.
Normal allele E3 •cholesterol metabolism takes place normally.

36. • DRD2
Gene
dopamine
receptor
D2
• DRD2 transports dopamine
which is secreted in the brain to
the nerves .
•Dopmaine send signal to the
brain for feeling of fullness and
promotes satiety.
Mechanism
•triggering the hunger
feel dueto emotional
disturbances
•It acts as the receptor
to transport the
dopamine
Functions
• Impairment in
transportation of
dopamine receptor
leading to eating disorder.
Risk Variant
DRD2 Gene (rs1800497, rs6276, rs6277, rs2283265)
Intervention
Risk allele CT
TC
emotional eating, alcoholism,
smoking, neuropsychiatric disorder.
•Controlled intake of
High calorie foods
•Psychological
treatment.
Normal
allele
CC Stimulates the hunger effect

37. SELF CONTROL AND GENETICS

38. •Mc4R Gene
melanocortin 4
receptor
•leptin and insulin produces
α αmsh which binds with
MC4R and gives satiety
value
•ghrelin and leptin
stimulates AGRP which
binds with MC4R to trigger
hunger
Mechanism
•Triggers the
Hunger effect
•Promotes
satiety
• Maintains
Body weight
Function
•There is
increased risk
for weight gain
by causing
increased
appetite and
decreased
satiety.
Risk variant
Mc4R Gene(rs17782313)
Intervention
Risk allele C C variant of the MC4R gene,
increases the risk for weight gain by
causing increased appetite and
decreased satiety.
•Low calorie diet
•multidisciplinary
interventions including
exercise, behavior and
nutrition therapy
•medications such as
sibutramine, serotonin
and noradrenalin
reuptake inhibitors
show body weight
reduction
Normal allele T T variant of the MC4R gene, reduces
the risk for weight gain by facilitating
normal regulation by decreasing
appetite and increasing satiety.

39. •MTHFR
Gene
Encodes for
methylene tetra
hydro folate
reductase
•Helps in the conversionof of
folic acid to L methyl folate
which helps in Convertion of
•serotonin> melatonin,
•Dopamine > Nor epinephrin,
•Homocystiene > Methionine
Mechanism
•Promotes sleep gives
relief from depression.
•Promotes Flight, Fright,
Fight action in our body
•Prevents the cause of
damage of arthritis.
Functions
•Impairment in
secretion of
methyl tetra
hydro folate
reductase enzyme
and impairs its
function
Risk Variant
MTHFR Gene(C677T) Intervention
Risk allele TT Leads to cause of Sleeplessness,
Restlessness, Depression and
increse the risk of Congenital
anomali, cardiovascular problem
and Rheumatoid Arthritis.
• Foods that are rich in
folic acid should be
consumed
•Folic acid
supplementation
should be taken
•Nonvegetarian foods
•Spinach, mushrooms,
GLV, Brusel Sprouts.
Normal
allele
CC Facilitates the formation of
methylene tetra hydor folate and
reduce the risk of cardiovascular
disease, Increase sleep ,reduce
depression and Rhematoid arthritis.

40. •MTNR1B
Gene
Encodes for
Melatonin
receptor 1 B
•MTNR1B Gene Codes for
melatonin receptor 1B which
codes for melatonin secretion
•Melatonin facilitates insulin
secretion during night and
regulates blood pressure .
•Melatonin promotes feeling of
fullness (appetite)
•It also regulates rhythmic
contraction of heart and
maintanins normal heart rate.
Mechanism
•Promotes insulin secretion
at night,
•It regulates physiological
functions such as blood
pressure, appetite
regulation, heart rate.
Functions
•Insulin secretion
is impaired during
night due to
improperintake of
food at night.
•Feeling of restless
ness and stress.
•Increased blood
pressure ,
increased heart
rate.
Risk Variant
MTNR1B Gene(rs 10830963) Intervention
Risk allele GG •Increased blood pressure , increased heart rate.
•Insulin secretion is impaired
•Incidence of type 2 diabetes , Heart disease
•Feeling of restlessness and stress.
• balanced food intake
at night.
•limit high carbs during
dinner.
•Doing exercise like
yoga will promote
stress relief .Normal allele CC •Facilitates normal melatonin secretion .
• Promote insulin secretion normally during night and
prevents the cause of diabetes .
•Have the feeling of satiety after having food in required
amount.

41. •IRS1 Gene
Encodes for
Insulin response
sensitivity
•IRS1 Gene stores the fat in the
form of subcutaneous fat and
it maintains the bone mineral
density .
•It maintains blood glucose
level and cholesterol level in
our body .
Mechanism •Maintains normal body
fat
•It also maintains the BMI
level in our body and
prevents the cause of
obesity and extreme
thinness.
•It increases insulin
sensitivity and
preventsT2DM.
Functions
•It leads to low body fat
percentage.
•Reduction in Bone
mineral Density.
•It leads to extreme
thinness but they have
high blood glucose level
and cholesterol level.
•Storage of fats in Visceral
fat instead of
subcutaneous fat.
Risk Variant
IRS1 Gene(rs ) Intervention
Risk allele chromosome
16 in a pair is
either deleted
or duplicated
•It leads to low body fat percentage.
•Low fat ,autism, Underweight.
•Storage of fats in Visceral fat instead of
subcutaneous fat.
• failure to thrive.
•Leads to obesity and appetite disorders
• balanced food intake .
•Including Probiotic
foods in the diet.
•Incase having deletion
we can have fatty foods.
•Incase having
duplication we can have
low calorie food.
Normal
allele
chromosome
16 in a pair is
normal.
•Maintains normal body fat
•It also maintains the BMI level in our body
•prevents the cause of obesity and extreme
thinness.(Mirror reaction)

42. •FUT2 Gene
Encodes for
fucosyl
transferase 2
•FUT2 gene encodes
instructions for the enzyme
fucossal tranferase for the
absorption of cobalamine.
Mechanism •Maintains brain
function.
•Facilitates cobalamine
absorption.
•Promotes neural
function and
strengthens the
connective nerves of
spinal cord and brain.
Functions
•Hindering cobalamine
absorption.
•Leads to neurological
problem related to the
spinal cord
•Pernicious anemia.
•Typical sore tongue.
Risk Variant
FUT2 Gene(rs 601338) Intervention
Risk allele homozygous
(sese)
•Hindering cobalamine absorption •proper intake of
vitamin B12.
Normal
allele
heterozygous
(SeSe)
•Facilitates cobalamine absorption

43. •ACE Gene
Angiotensiogen
converting
enzyme
•Activates the hormone that
leads to the series of reaction
in the RAS system leading to
increased blood pressure .
Mechanism
•Helps to maintain normal
sodium level in our body
.
•Helps to maintain acid –
Base balance in our renal
system.
•Maintains the normal
blood pressure and
prevents the cause of
hypertension.
Functions
•It fails to maintain the
sodium level in our body
and it leads to increased
sodium profilein our
body.
•It leads to hypertension,
cardiovascular problems
Risk Variant
ACE Gene(287bp alu) Intervention
Risk allele DD
•It fails to maintain the sodium level in our
body and results in increased blood
pressure in our RAS system.
•It leadsto hypertension, cardiovascular
problems
• balanced food intake .
•Limiting sodium
consumption.
Normal
allele
II
•Maintains the sodium level in our body.

44. • AGT Gene
Encodes for
Angiotensinogen
• AGT genes provides
instructions for making a
protein called
angiotensinogen which helps
in the regulation of blood
pressureby activating the
hormone that leads to the
series of reaction in the RAS
system .
Mechanism
• It maintains the function
of RAS system.
• AGT gene instructs for
the production of
angiotensionogen.
• Maintains sodium level in
our body.
Functions
• It fails to maintain the
sodium level in our body
and results in increased
sodium level in our RAS
system.
• It leadsto hypertension,
Hypotension.
• Cardiovascular and renal
problems
Risk Variant
AGT Gene(rs699) Intervention
Risk allele DD
•It fails to maintain the sodium level in our
body and results in increased sodium level
in the body.
•It leadsto hypertension, cardiovascular
disease renal problems and hypotension
• balanced food intake .
•Limiting sodium
consumption.
Normal
allele
II
•Maintains the sodium level in our body.

45. •FBN3
Gene
TGF Beta activity
•FBN3 gene serves to
maintain the activity of
TCF Beta cells , a group
of molecules important
for sending signals to
the cells
Mechanism
•The FBN3 reduces the
activity of TGF Beta
activity
•Regulates the normal
secretion of insulin.
•Maintains the TGF
Beta activity in cells .
•Maintains the androgn
level in our body.
Functions
•Metabolic Disorder
such as Hypertension,
• inflamation ,
cardiovascular disease
•Insulin resistance.
•PCOS.
•In female irregular
periods and infertility
takes place.
Risk Variant
FBN3 Gene(D19S884) Intervention
Risk allele A8
•There is reduced level of FBN3 which leads to
increased abnormal TGF Beta activity
•It leads to cause of Metabolic Disorder such as
Hypertension, inflamation , cardiovascular
disease Insulin resistance and PCOS.
• High fibre food should be consumed
more.
•Should have foods which contain
more of HDL.
•Intake of sodium should be reduced.
•Red meat, spinach , Green tea
,sprouts should be taken.
•Should do regular exercise.
•Millets shold be included in the diet.
Normal allele A •The FBN3 reduces the activity of TGF Beta
activity and it prevents the cause of Pcos
condition in women and the incidence of other
metabolic disorders.

46. •SHBG Gene
•Sex
hormone
binding
globulin
Encodes for
secretion of sex
hormones
Estrogen and
progesterone
•SHBG Binds globulin and
sequestrate the vast majority of
sex hormones including Estrogen
and progesterone and maintains
androgen level.
•Promotes normal secretion of sex
hormones and maintains the
normal level of each sex hormone
and prevents cause of PCOS and
prevents infertility in women.
Mechanism
•Maintains androgen level
•Maintains the sex
hormone level in the
body Estrogen and
Progestrone secretion.
•Stimulates the secretion
of adiponectin which
helps in maintaining the
body weight.
•Reduce the level of
testosterone level in
females and maintains
the level
Functions
•Less level of SHBG
secretion leads to PCOS
(Hormonal
imbalance)irregular
menstruation ,Cyst on
oneor both of the ovaries
•Increased androgen level
Risk Variant
SHBG Gene(rs 6257) Intervention
Risk allele C •Reduced SHBG -Biomarkers of PCOS .
•Increased testosterone level and Leads to
hirsutism (Excess hair growth in Body or face in
females due to Hormonal imbalance)
•Irregular menstruation and leads to infertility in
women .
•Also leads to obesity and cause elevated /defect
in insulin secretion.
• Limit sugar intake.
•Spinach, GLV, Sprouts.
•Exercise at least 30 minutes at a
time ,5 or more days per week.
•Green tea and soy based
products should be taken.
Normal allele A THE SHBG level is more in normal allel and it leads
to maintanence of Sex Hormonal balance and
they have protection against PCOS and other
condition related to hormones.

47. • PPAR Gene
• peroxisome
proliferator-
activated
receptor
Encodes for
protein
PPARy,PPARα,
PPARδ
• In the presence of excess energy ,
PPARγ triggers its storageby
promoting fat synthesis. PPARα
promotes fat burning in the liver to
release the stored energy
• PPARδ (also known as PPARβ)
promotes fat synthesis in the liver
while initiating fat burning in
muscle.Regulates energy storage
and supply in the human body
Mechanism • PPARs are involved in
adipogenesis and
osteogenesis .
• Regulates energy
storage and supply
• PPARG, PPARA, and
PPARD, controls the
process of utilization
of stored fat and
facilitates weight loss.
Functions
• Incidence of metabolic
syndrome.
• Hypertension, Diabetes,
Obesity, Etc
.Dislipidemia, LDL
Cholesterol, Increased
risk of Heart failure.
Risk Variant
PPAR Gene(Pro12ALa , Lue162Val , 87T>C) Intervention
Risk allele PPARy
(Pro12)
obesity and type 2 diabetes mellitus • Regular exercise
•Foods that are rich in fibre.
•Foods that are rich in HDL .
• Spinach, GLV, Sprouts.
•Red meat, Gingelly oil.
PPARα
(Lue162)
Dislipidemia, LDL Cholesterol, Increased risk of Heart
failure.
PPARδ(T) Incidence of metabolic syndrome. Heart failure,
Hpertension, Diabetes, Obesity, Etc .
Normal
allele
PPARy(Ala) reducing the risk for obesity and T2DM.
PPARα(Val) Prevents the cause of Dislipidemia, LDL Cholesterol,
Increased risk of Heart failure.
PPARδ(C) protective effect against metabolic syndrome

48. •TCF7L2
Gene
Enocodes to
produce hormone
GLP-1 and GIP
•GLP1 travels through the
blood to reach target
organs
•Promotes potentiation of
glucose stimulated insulin
secretion.
•Enhance beta cell
proliferation and inhibits
glucagon release and
promotes gastric emptying
and food intake
Mechanism
•TCF7L2 – master controller
of genes(transcription)
•Plays central role in
coordinating expression of
proinsulin & generates
mature insulin.
•Controls fate of gene
involved in trigerring Beta
cells to secrete insulin as
response to consumption of
meal.
Functions
•Impaired insulin
secretion rather
than insulin
resistance.
•Leads to high
blood sugar level –
a hall mark of pre
diabetas and
Diabetes.
Risk Variant
TCF7L2Gene(rs7903146) Intervention
Risk allele T Affects the body`s response to food in
the gut and impairs insulin secretion by
irregular secretion of GLP1 and Gip
hormone.It leads to cause of Type 2
Diabetes.
• Foods that are in Low in
carbs , High in fat and
protein.
•Spinach, GLV, Meat
Sprouts.
•Exercise atleast 30
minutes at a time ,5 or
more days per week.
•Avoid high glycemic index
food
Normal allele C Promotes GLP1 hormone secretion
which promotes response to food in the
gut and facilitates insulin

49. •HFE Gene
Encodes for
Membrane
protein
•Provides instructions to
produce a protein that is
located on the surface of
cells, primarily liver and
intestinal cells.
Mechanism
•Interacts with other protein
on the cell surface to detect
the amount of iron in the
body
•The HFE protein regulates the
production of another
protein called “Hepcidin”
•Hepcidin- determines the
amount of iron absorbed
from the diet. Called as
master iron regulatory
hormone.
Functions
•Cause over load
of iron leading to
a condition called
hemochromatosis
.
Risk Variant
HFE Gene(rs1799945) Intervention
Risk allele AA Causes a serious form of
hemochromatosis, accounts for
about 85% of the patients.
The risk genotype
individuals are
recommended to
have food low in
vitamin C and iron.
Normal
allele
GG Causes mild form of
hemochromatosis or does not
have any effect

50. •BCMO1
gene
Encodes for
Beta carotene
oxygenase
enzyme
•Both beta carotene and
retinal are converted into
retinol, retinoic acid and
retinal palmitate and
stored in the liver.
• Gene helps in the
production of protein that
binds vitamin A
Mechanism
•Helps in the
conversion of
carotene to
retinol which is
active form of
vitamin A
Functions
•Inability to
convert
carotene to
retinol.
Risk variant
BCMO1(rs7501331) Intervention
Risk allele T Individuals with the risk allele
though with good amount of
carotene intake, face an inability
to convert it to retinol,Face night
blindness, bitot spots.
• retinol
supplementations
can be given
Normal
allele
Have normal convertion of beta
carotene to retinal.

51. •ATP7B gene
Copper
transporting
ATPase 2
•Copper transporting
ATPase 2 supplies
copper to a protein
called ceruloplasmin
which transports
copper to other parts of
the body via blood.
Mechanism
•Copper-transporting
ATPase 2 is also
important for the
removal of excess
copper from the
body
Functions
•Causes Wilson
disease. (stores
copper in your liver,
kidney, brains)
Risk variant
ATP7B gene Intervention
Risk allele the risk variant has the accumulation
of copper leading to disease, Wilsons
disease.
•Egg, rice, butter, cereals,
chicken.
•Reduction of the dietary
copper rich foods.
Normal allele Maintans the copper level in the body
and preventsthe accumulation of
copper in the body

52. CYP1A2 gene (rs762551) Intervention
Risk allele C They are slow metabolisers of
caffeine, hence easily prone to
heart attack and hypertension
when consuming 2 or more cups
coffee per day
• Cabbage,
cauliflower,
broccoli helps to
induce CYP1A2
gene to induce
caffeine
metabolism.
Normal allele A They are fast metabolisers of
caffeine, hence have reduced risk
of the disease occurance
•CYP1A2Gene
Encodes for
Cytochrome
proteins
•caffiene binds with the
adenosine receptors which are
stimulated by cytochrome
proteins which promotes
caffine metabolism in the liver
so that the alertness is provided
and the caffeine is not
accumulated in the blood.
Mechanism
•Energetic
•Stays alert
•Prevents from heart
failure, T2DM, liver
diseases
Functions
• They are slow
metabolisers of
caffine Which leads
to overload of
caffiene in the blood
so they are easily
prone to get heart
attack and
hypertension .
Risk Variant

53. •FADS1 Gene
Encodes Fatty acid
dereductase
enzyme
•The fatty acid dereductase
enzyme acts as a catalyst for
EPA , DHA , Amino acid
synthesis and promotes
neurotransmission and
Cognitive development.
Mechanism •Promotes cognitive
development.
•Helps in the synthesis of
ecosapentanoic acid(EPA)
and decosahexanoic acid
(DHA) .
•It also helps in synthesis
of amionoacid.
Functions
•The person who carry risk
allele will have impaired
fatty acid dereductase
enzyme secretion which
leads to insufficient
cognitive development,
lack of neuro transmission,
PUFA deficiency.
Risk Variant
FADS1 gene (rs174550) Intervention
Risk allele C There is insufficiency in cognitive
development, lack of neuro
transmission, PUFA deficiency.
• The person who carry
risk allele should
have the foods that
have natural
availability of these
EPA,DHA, AA can be
consumed such as
fish, egg etc..,
Normal allele T Have normal secretion of fatty acid
dereductase enzyme and so there is
normal synthesis of EPA, DHA, Amino
acid and also promotes normal neural
function.

54. •VDR Gene
Encodes for Vitamin
D receptor
•the VDR binds with the ative
form of vitamin - D and
binds to the cell region of
DNA (vitamin - D response
elements) to regulate
activity of Vitamin - D
responsive genes.
Mechanism
•VDR Gene encodes
for vitamin D
receptor .
•It helps in vitamin D
synthesis and helps in
calcification of bones
•Helps to maintain
bone mineral density.
Functions
•As Vitamin D is not binding
with the cells it do not get
activated in the body and
calcium absorption do not
takes place leading to
reduction in bone mineral
density causing
osteoporosis and
intervertebral disc
diseases.
Risk Variant
VDR gene (rs731236) Intervention
Risk allele TT They are more prone to get
osteoporosis and intervertebral disc
diseases.
• acitve form of
vitamin D can be
given.
Normal allele CC vitamin D is synthesised normally and
helps in calcification of bones
maintains bone mineral density.

55. •LCT Gene
Encodes for the
enzyme lactase.
•LCT Gene encodes for secretion
of lactase enzyme when the
lactose rich food enters the gut .
•This lactase will metbolize the
lactose into glucose and
galactose and they are converted
into energy and absorbed in the
body
Mechanism
•Encodes for lactase
enzyme.
•Lactase helps to
convert lactose to
simple sugars.
•It produces energy.
Functions
•The people who have
variant in LCT gene will
not produce lactase
enzyme
• They will have lactase
resistance so they could
not able to digest the
lactose in the milk ,
Hence they will be lactose
intolerant.
Risk Variant
LCT gene Intervention
Risk allele GG, CC •Absence or resisttance of lactase
enzyme secretion leads to lactose
intolerance.
•Bloating, Vomitting, Diarrhoea, Milk
allergy, etc will be caused in milk
consumption.
• Alternation for the
dairy products such as
soy milk, butter milk
coconut milk, curd
(fermented milk
products
Normal allele Tolerant to lactose and they do not have
allergy in milk consumption.

56. •GC gene
Vitamin – D
binding proteins
•The active form of
vitamin – D from the
blood is binded with
the gene and
delivered to target
tissues
Mechanism
•Vitamin – D
transportation
to the target
tissues.
Functions
•It leads to vitamin
D deficiency.
•Reduction in bone
mineral density.
•More prone to
have
osteoporosis.
Risk variant
GC gene Intervention
Risk allele GC2 They have decreased vitamin D3
levels in the blood plasma and have
vitamin – D deficiency.
Calcitriol can be
supplemented directly.
Normal allele GC1 They have increased vitamin D3
levels in the blood plasma and have
lower risk of vitamin – D deficiency.

57. •NPAS2 gene
Neuronal PAS
domain protein
•The light received by
eyes signals
hypothalamus,
which signals pineal
gland for melatonin
secretion.
Mechanism
•Vitamin D production
•Bone health
•Reduces risk of
cancers
•Mental and
metabolic health
Functions
•More prone to have
SAD disorder.
•May have bone
disorders and
mental problem.
Risk variant
NPAS2 gene (rs11541353) Intervention
Risk
allele
T Increased occurrence of
SAD during winter days.
Light exposure
to the patients
with the SAD
disorder.
Normal
allele
C Doesn’t have any
changes
CLOCK gene (rs1801260) Intervention
Risk
allele
G SAD disorder Exposure to
light
theraphy

58. •PON 1
Gene
paraoxonases
•Produces a enzyme
called paraoxonase 1
which protects the
LDL oxidation.
Mechanism
•Maintains LDL
level in the
blood .
•Protects from
atherosclerosis
Functions
•Has increased LDL
profile in the blood
leading to
atherosclerosis
Risk variant
PON 1 gene (rs662) Intervention
Risk allele R Has increased oxidation of the LDL so
leads to the risk of atherosclerosis
The risk allele are benefited
with the lycopene
supplementation 300mg
Sources are tomato juice,
canned tomato, grape fruit
etc,Normal allele Q Does not have the increased oxidation

59. •VAD gene
Vitamin D binding
proteins
•This gene instructs for the
formation of protein
vitamin receptor.
•Vitamin D synthesis takes
place and leads to
calcification of bones
Mechanism
•Promotes Vitamin D
synthesis.
•Helps in calcification
of bones and
maintains bone
mineral density
Functions
•Osteoporosis
•Intervertebral
disc disease
Conditions
VAD gene(rs731236), (rs11568820) Intervention
Risk allele
Rs11568820
TT
GG
They have increased risk of
osteoporosis
•Increased vitamin – D
in
the diet can be given
•Milk
•Cheese
•Fish
•Seafoods can be given
Normal
allele
Rs11568820
CC
AA
They don’t have osteoporosis

60. •PLG gene
Encodes for
Protein called
plasminogen
•Instructs to form
protein plasminogen
which forms as plamin
and helps in the
breakdown of fibrin
Mechanism
•Indirectly helps in
the formation of
new fibrin
•Helps in blood
clotting process
•Helps in the disposal
of old fibrin
Functions
•They are more
prone to have
congenital
plasminogen
deficiency.
Conditions
PLG gene(p.lys 38 glu) Intervention
Risk allele GG They are more prone to have
congenital plasminogen deficiency.
No recommendation is
found in the article
Normal
allele
AA They have normal level of
plasminogen

61. •GPX1 gene
Encodes for
enzyme
glutathione
peroxidase
•This enzyme detoxify
hydrogen peroxide and
they are converted
into water which is
based on mechanism
of selenic acid which
reacts with amine or
amine bond
Mechanism
•It catalyses reduction
of other organic
hydroperoxide such as
lipid peroxide .
•This protein protect
from CD95 induced
apoptoxsis.
Functions
•Have inflammatory
reactions, arterial
damage, cancer,
etc
Conditions
GPX1 gene(rs713041) Intervention
Risk allele TT Have inflammatory reactions,
arterial damage, cancer,etc
• Increase the protein
and selenium in the
diet.
•Foods like Sea
foods,Meat,
sardine,Chicken .
•omega 3 fatty acid rich
foods can be given.
Normal
allele
AA Have normal selenium level and
the body is regulated properly

62. •PEMT Gene
Encodes for the
enzyme phosphotedyl
n mrthyl transferase
•PEMT+Oestrogen act
along with liver cells
produce choline
•Convert phosphotedyl
ethanol to
phosphatedyl choline
by sequential
methylation
Mechanism •Maintains the choline
level in the body.
•Acts along with
Oestrogen for choline
synthesis.
•Helps as
neurotransmittor
•Helps in improving
cognitive functions
Functions
•Have no oestrogen
secretion
•They do not have
normal mechanism of
choline so they do not
have normal coline
synthesis and leads to
choline deficiency.
Risk Variant
PEMT gene (rs12325817) Intervention
Risk allele G Men or postmenpausal women do not
have choline synthesis and have
choline insufficiency in their body.
Have impaired oestrogen secretion
• Active form of
choline .
• Foods rich in choline
such as egg can be
given.
Normal allele C Have normal choline synthesis and
they have normal oestrogen secretion

63. • GLUT4 gene
Encodes for the
protein called
glucose transporter
type 4
•Magnesium act with
peripheral tissue
•Activation of tyrosine
kinase produce signaling
cascade = translocation
of GLUT4 to the cell`s
outer membrane. It
allows the cells to take
up glucose
Mechanism
•This enzymes will
carry out glycolysis
in the presence of
magnesium for
proper function.
•It helps to take up
glucose in reduced
blood glucose level
Functions
•Have magnesium
deficiency which could
impair our ability to
utilize sugar for energy.
•Insulin resistance and
leads to type 2Diabetes
Risk variant
GLUT4 gene(rs001033) Intervention
Risk allele A •Prolonged muscle spam
•Have magnesium deficiency which could impair our
ability to utilize sugar for energy.
•Delirium
•Hallucinations
•Tingling
•Insulin resistance and leads to type 2Diabetes
• Bran
•Pumpkin seeds
•Hemp and chia seeds
•Cashews
•Almonds
•Soy and black beans
•Salmon and mackerel
•green leafy vegetables, nuts and
seeds, legumes and whole grains
Normal allele G Have normal level of magnesium and have normal
GLUT4 translocation process which helps in normal
sectretion of insulin level.

64. • CCR5
gene
Encodes forC-C
chemokine
receptor type 5
• CCR5 receptor is a protein( in
white blood cells ) that is
involved in the immune
system as it acts as a receptor
for chemokines.
•This is the process by which T
cells are attracted to specific
tissue and organ targets
•HIV1->(binds)CCR5 = AIDS
Mechanism • It plays a role in
inflammatory responses
to infection
• Regions of this protein
are also crucial for
chemokine ligand
binding,
•functional response of
the receptor, and HIV
co-receptor activity
Functions
•HIV virus needed
the co-receptor to
gain entry to infect a
T-cell. So this Co
receptor produced
by mutant CCR5
gene cause AIDS
Conditions
CCR5 gene(rs333) Intervention
Risk allele CCR5 gene Have co receptor which helps in
development of HIV virus in our
body leading to AIDS
•Foods that increases the
immunity.
•Foods that are rich in
Antioxidant.
• Fruits ,GLV , vegetables, Egg
, etc
•Chemotherapy
•Bone marrow transplant, etc
Normal allele Mutant of
CCR5 del
( 32)
Homozygous
Those carrying a single copy of the
CCR5-del32 allele experience
delayed development of AIDS while
those who carry both copies of the
CCR5-del32 allele would likely not
develop AIDS at all.

65. • ALDH2
gene
Encodes for
aldehyde
dehydrogenase
enzyme
•The chemical breakdown of
alcohol happens primarily in
the human liver and is
facilitated by two major
enzymes ADH and ALDH .
•Alcohol -> Acetaldehyde ->
Acetate (acetic acid) and it is
eliminated/ excreted through
urine.
Mechanism •Converts the
acetaldehyde to
acetate and prevents
the accumululation of
acetaldehye in the
blood
• It prevents the cause
of dilation of
capillaries
•It prevents the cause
of Asian flushing.
Functions
•Cause of facial
flush.
•ALDH2 deficiency
which increase the
risk of developing
oesophagal cancer
and other types of
cancer.
Conditions
ALDH2 gene(rs671) Intervention
Risk allele A allele •Facial flush
•Oesophagal cancer
•Accumulation of aldehyde in the
blood
leading to dilation of capillaries
•Limit the consumption of
alcohol.
•Avoid the consumption of
alcohol.
•Limit the tea and coffee
consumption
Normal allele G allele •Normal conversion takes place.
•Normal secretion of aldehyde
dehydrogenase enzyme .
• prevents accumulation of
acetaldehyde in the blood.

66. •FGF23
gene
Encodes for
Hormone called
Fibroblast growth
factor23
•FGF23 hormone secreted in
bone –stimulated by vitamin
D+ increased extracellular
phosphate forming feed
back loop between bone
and kidney.
•FGF23 is stimulated by
phosphate ,parathyroid
hormone and by vitamin D
hormone.
Mechanism • suppress phosphate
reabsorption
•Maintains phosphorus
and calcium level in
blood
•Involves klotho
signaling an
enzymatic fucnction
Functions
•Hyper phosphatemic
familial tumoral
calcinosis
•Hypo phosphatemia
•Vascular dysfunction
and atherosclerosis.
•Hyperparathyroidism
Conditions
FGF23 gene(R176Q) Intervention
Risk allele C allele
(mutation)
Hyper phosphatemic familial tumoral
calcinosis- a rare condition – Increase
level f phosphate in the blood
Hypo phosphatemia reduced level of
phosphate in the blood.
•Rice bran
•Seeds- pumpkin, squash,
hemp,etc.
•Yogurt
•Tofu
•Meat
•Eggs
•Fish, salmon,
Normal allele C allele •Maintains phosphorus level in the body
•promotes calcification in bone.
•Prevents the cause of hyper
parathyroidism