Get Adobe Flash player

Il tuo carrello
è vuoto.



È un test nutrigenetico che analizza in 28 geni la presenza di specifiche variazioni genetiche associate al metabolismo di carboidrati, grassi, vitamine e fattori nutrizionali, tossine ed all’esercizio fisico. Il test permette di elaborare:

  1. il tuo fabbisogno nutrizionale: di quanti nutrienti hai bisogno?
  2. la tua dieta personale: quali alimenti aumentare o diminuire?
  3. la tua integrazione personalizzata: di quali integratori hai bisogno?

Oltre a fornire un piano alimentare calibrato sulle caratteristiche genetiche del tuo organismo in termini di carico glicemico e apporto di macronutrienti, il test ottimizza gli apporti di micronutrienti (vitamine, minerali e fattori nutrizionali) in modo da supportare al meglio i processi metabolici e fisiologici in 12 aree critiche per la salute ed il benessere del tuo corpo.

Perchè dovrei fare il test DIETAGENE®-WELLNESS?

Il test permette di capire la tua sensibilità ai grassi, carboidrati ed esercizio fisico, 3 fattori strettamente legati all’aumento del peso corporeo. Alcuni individui, infatti, tendono ad accumulare i grassi facilmente, o hanno livelli più alti di glicemia che favorisce la deposizione di grasso, oppure sono poco sensibili all’esercizio fisico e necessitano di aumentare l’intensità dello sforzo fisico per bruciare i grassi. Il test permette, inoltre, di ottimizzare gli apporti di nutrienti (minerali e vitamine) in 12 are della salute cruciali per il benessere. Ciò è reso possibile dal fatto che alcune variazioni genetiche aumentano il fabbisogno giornaliero di alcuni nutrienti e la loro conoscenza consente di personalizzare la nutrizione.

Objectives: Dietagene-Wellness includes objectives of both DNA-Wellness-Diet and Dietagene. The test analyses 28 genes and evaluate the nutritional needs in terms of macronutrient and vitamins, recommend food supplements, weight loss diet and exercise level required to loose weight.

SNPs & Genes Function in Personalized Nutrition


Gene: APOC3, Apolipoprotein C-III
SNP tested: C3175G
Chromosome location: 11q23.1-23.2
Total publications on the gene: 195
Meta-Analysis: 30

Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia.
The APOC3 3175 polymorphism (a.k.a. 'the SstI polymorphism') is located in exon 4 in the 3' untranslated region (3'UTR) of the gene encoding apolipoprotein C-III (apo C-III). SNP tested in the DIETAGENE-WELLNESS has been demonstrated in numerous studies to be associated to high triglycerides levels.

Gene: LPL, Lipoproteinlipase
SNP tested: C1595G
Chromosome location: 8p22
Total publications on the gene: 325
Meta-Analysis: 41

LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL): Triacylglycerol + H2O = diacylglycerol + a carboxylate. Binding to heparin sulphate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. The variation tested in the DIETAGENE-WELLNESS has been found linked to reduced level of HDL and increased level of TG.

Gene: APOA2; Apolipoprotein A-II
Variation tested: -265T>C
Chromosome location: 1q21-q23
Total publications on the gene: 38
Meta-Analysis: 7

This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles (HDL). May stabilize HDL structure by its association with lipids, and affect the HDL metabolism. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia.
The APOA2 gene is linked to a gene that controls plasma levels of apoA-II and the APOA2 gene or its product influences, by an unknown mechanism, plasma levels of free fatty acids (FFA). ApoA-II is biochemically and genetically associated with familial combined hyperlipidemia (FCHL) and may serve as a useful marker for understanding the mechanism by which FCHL develops.
A SNP in the promoter region of the gene APOA2 (-265T>C) influences the level of gene expression: in vitro transfection assays showed the transcriptional activity of the APOA2 promoter was reduced by 30% in the -265C allele as compared with the -265T allele.
This SNP -265T-C has been demonstrated to influence the level of total cholesterol and low density lipoprotein (LDL) cholesterol causing hypercholesterolemia in those members who are simultaneously carrier of a mutation in the LDLR gene.
In the DIETAGENE-WELLNESS test, the SNP -265 T>C with the allele C in homozygosis is associated with increased sensitivity to saturated fats.

Gene: FABP2; Fatty Acid Binding Protein 2, Intestinal
Variation tested: Ala54Thr
Chromosome location: 4q28-q31
Total publications on the gene: 105
Meta-Analysis: 6

The intracellular fatty acid-binding proteins (FABPs) belong to a multigene family with nearly twenty identified members. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids and their acyl-CoA esters. They may also be responsible in the modulation of cell growth and proliferation. FABP2 is probably involved in triglyceride-rich lipoprotein synthesis. Binds saturated long-chain fatty acids with a high affinity, but binds with a lower affinity to unsaturated long-chain fatty acids. FABP2 may also help maintain energy homeostasis by functioning as a lipid sensor. Intestinal fatty acid-binding protein 2 gene contains four exons and is an abundant cytosolic protein in small intestine epithelial cells. This gene has a polymorphism at codon 54 that identified an alanine-encoding allele and a threonine-encoding allele. Thr-54 protein is associated with increased fat oxidation and insulin resistance. Scientific findings confirmed the association of the FABP2 thr54 allele with increased concentrations of cholesterol and triglycerides in genotype-discordant sib pairs and that genetic variation in the FABP2 gene may increase susceptibility to stroke.
The ala54-to-thr (A54T) polymorphism of FABP2 is associated with increased intestinal input of triglyceride that can lead to elevated fasting and postprandial plasma triglycerides in type II diabetes.
The variation tested in the DIETAGENE-WELLNESS test (Ala54Thr) is associated to increased sensitivity to saturated fat from diet.

Gene: FTO; Fat Mass And Obesity Associated Protein
Variation tested: A/T
Chromosome location: 16q12.2
Total publications on the gene: 258
Meta-Analysis: 47
GWAS: 18

The exact function of this gene is not known. Studies in mice suggest that it may be involved in nucleic acid demethylation, and that its mRNA level is regulated by feeding and fasting. FTO is a dioxygenase that repairs alkylated DNA and RNA by oxidative demethylation; has highest activity towards single-stranded RNA containing 3-methyluracil, followed by single-stranded DNA containing 3-methylthymine. Has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine. Has no activity towards 1-methylguanine. Has no detectable activity towards double-stranded DNA; requires molecular oxygen, alpha-ketoglutarate and iron. Contributes to the regulation of the global metabolic rate, energy expenditure and energy homeostasis. Contributes to the regulation of body size and body fat accumulation.
Defects in FTO are the cause of growth retardation developmental delay coarse facies and early death (GRDDCFED) [MIM:612938]. The disease consists of a severe children multiple congenital anomaly syndrome with death by the age of 3 years. All affected individuals had postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits, and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate were also observed.
Genomewide association studies of type 2 diabetes indicate this gene as a diabetes susceptibility locus.
At least one intronic variation within the gene predisposes to childhood and adult obesity. A common variant in the FTO gene (610966) on 16q12.2 has been identified as a risk factor for obesity. The authors performed a genomewide association study of type II diabetes by screening 1,924 patients and 2,938 controls from the UK for more than 490,000 autosomal SNPs. Variation in the FTO region showed strong association (as high as p of 5 x 10(-8) for rs9939609) in this screen and in a replication study with an additional 3,757 type II diabetics and 5,346 controls (p of 9 x 10(-6) for rs9939609). The A allele of rs9939609 is associated with increased BMI. The risk attributed to rs9939609 was approximately 20% for obesity (BMI more than 30 kg/m2) and approximately 13% for being overweight (BMI more than 25 kg/m2). About 16% of white Europeans are homozygous for the A allele of rs9939609 and are 1.67 times as likely to be obese compared with those homozygous for the T allele. Study of at-risk children showed that rs9939609 was associated with increased BMI and obesity by the age of 7 years.
A meta-analysis of data from 4 European population-based studies and 3 disease-case series, involving a total of 16,876 individuals of European descent, confirmed the previously reported association between the FTO gene and BMI (p = 3.6 x 10(-8) at rs1121980). The genotype of the intronic FTO SNP rs9939609 (A to T) in a cohort of 3,337 United Kingdom children has revealed, an association between the A allele and increased adiposity; AA homozygotes had significantly reduced Satiety Responsiveness scores (p = 0.008). Mediation analysis indicated that the association of the AA genotype with increased adiposity was explained in part through effects on Satiety Responsiveness.
A meta-analysis of 15 genomewide association studies for BMI comprising 32,387 participants and a follow up in 14 additional cohorts comprising 59,082 participants, strongly confirmed association with FTO, represented by rs9939609, as associated with obesity with a per-allele change in BMI of 0.33 and an overall P value of 4.9 x 10(-74).
In a study of 15,931 Swedish adults without diabetes it was found that the minor A allele of rs9939609 was associated with increased BMI (p less than 0.001 for AA vs TT or TA genotypes) and, after adjustment for age, sex, and BMI, also with self-reported increased physical activity levels (p = 0.02).
The FTO SNP (A to T) tested in the DIETAGENE-WELLNESS test is associated with an increased sensitivity (with A allele) to fats, refined carbohydrate and exercise level requirement.

Gene: ADRB3;Adrenergic, Beta-3-, Receptor, Surface
Variation tested: Arg64Trp
Chromosome location: 8p12
Total publications on the gene: 220
Meta-Analysis: 36

The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis.
The trp64-to-arg (W64R) variant of the ADRB3 gene increases the capacity to gain weight and is also associated with susceptibility to an early onset of non-insulin-dependent diabetes mellitus (NIDDM) and lower metabolic resting rate.
In the Dietagene test, the variant Arg64 is associated to a higher BMI and a reduced lipolysis; furthermore is linked to a reduced sensitivity to exercise, more intense exercise is needed to have the same effect as typical intensity for carriers of the Trp64 variant.


Gene: MTHFR, Methylentetrahydrofolate reductase
SNP tested: C677T
Chromosome location: 1p36.3
Total publications on the gene: 2205
Meta-Analysis: 282

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine:
5,10-methylenetetrahydrofolate + NAD(P)H=5-methyltetrahydrofolate + NAD(P)+ (FAD is the cofactor).
Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency (MTHFRD). The SNP tested in the DIETAGENE-WELLNESS is associated to an increased level of homocysteine that in turn has been found linked to an increased rate of deep vein thrombosis.


Gene: ACE; Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
Variation tested: Ins/Del
Chromosome location: 17q23.3
Total publications on the gene: 1664
Meta-Analysis: 211

This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety.
Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active.
The Allele I tested in the DIETAGENE-WELLNESS is linked to an increased blood pressure with increased NaCl consumption. In addition to this, the allele D can negatively impact glycemic response to sugars, leading to a reduced sensitivity to insulin; this effect is marked in overweight individuals and can be compensated by a regular exercise.


Gene ACE: see above.

Gene: PPARG; Peroxisome Proliferator-Activated Receptor Gamma
SNP tested: Ins/Del
Chromosome location: 3p25
Total publications on the gene: 599
Meta-Analysis: 95

This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. It forms a heterodimer with the retinoic acid receptor RXRA called adipocyte-specific transcription factor ARF6 That regulate transcription of various genes.
This Receptor binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the receptor binds to a promoter element in the gene for acyl-CoA oxidase and activates its transcription. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. It is a key regulator of adipocyte differentiation and glucose homeostasis. Genetic variation in PPARG may influence body mass index (BMI). Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including susceptibility to obesity, to type 2 insulin-resistant diabetes, hypertension, atherosclerosis (with increase of carotid intimal medial thickness-CIMT) and colon cancer. Alternatively spliced transcript variants that encode different isoforms have been described. The SNP tested DIETAGENE-WELLNESS test influences the level of expression of the protein and the Ala version has been associated with a beneficial effect on the glycemic and insulin response to refined sugar. In addition, this SNP may influence the sensitivity to fats, especially to saturated fats.

Gene: ADRB2; Adrenergic, Beta-2-, Receptor, Surface
Variation tested: Gln27Glu, Arg16Gly
Chromosome location: 5q31-q32
Total publications on the gene: 505
Meta-Analysis: 52

This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. The beta-2-adrenergic receptor binds epinephrine with an approximately 30-fold greater affinity than it does norepinephrine. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes.
The Gly-16 allele is overrepresented in individuals affected by nocturnal asthma as compared to controls, and appears to be an important genetic factor in the expression of this asthmatic phenotype.
Some individuals have resistance to the lipolytic effects of catecholamines and that this is the result of decreased ADRB2 expression in fat cells. The beta-2 adreno-receptor is a major lipolytic receptor in human fat cells. The variation gln27 to glu was indeed markedly associated with obesity with a relative risk for obesity of approximately 7 and an odds ratio of approximately 10. Homozygotes for glu27 had an average fat mass excess of 20 kg and approximately 50% larger fat cells than controls.
Evidences suggested that genetic variation in the ADRB2 gene may be of major importance for obesity, energy expenditure, and lipolytic ADRB2 function in adipose tissue, at least in women.
The Gly16Arg (P less than 0.005) and Gln27Glu (P less than 0.04) polymorphisms were associated with metabolic syndrome in men, but not in women. A significant association between the gln27-to-glu (Q27E) polymorphism of the ADRB2 gene and obesity (601665) had been demonstrated. The gln27 allele was present in 52% of obese subjects and in 70% of non-obese subjects.
Women carriers of the Arg/Arg genotype had lower fasting plasma NEFAs and greater suppression of NEFAs after an oral glucose load than women bearing the G16 allele.
Exercise produces an increase in sympathetic nervous system activity, a response that may be impaired by ADRB2 dysfunction. A group of 252 female Spanish subjects were studied to examine the association between obesity risk and the glu27 polymorphism of the ADRB2 gene, depending on physical activity. It was found that obese women who are carriers of the glu27 allele do not benefit equally from physical activity compared to non-carriers of the glu27 allele. It was concluded that the glu27 allele of the ADRB2 gene is a physical activity-dependent factor for obesity risk.
In the DIETAGENE-WELLNESS test, the analysed SNPs are correlated to Fat burn resistance to exercise (Glu27 and Gly16) and to a tendency to regain weight after diet(Gly16) and to an increase of visceral fat(Glu27). It is also considered the impact of Glu27 on the increased response and sensitivity to carbohydrates.

Gene: TCF7L2; Transcription factor 7-like 2 (T-cell specific, HMG-box)
Variation tested: C/T
Chromosome location: 10q25.3
Total publications on the gene: 247
Meta-Analysis: 45
GWAS: 15

The TCL7L2 gene product is a high mobility group (HMG) box-containing transcription factor implicated in blood glucose homeostasis. Evidences suggested that TCL7L2 acts through regulation of proglucagon (138030) through repression of the proglucagon gene in enteroendocrine cells via the Wnt signaling pathway.
The protein has been implicated in blood glucose homeostasis. Several transcript variants encoding multiple different isoforms have been found for this gene.
Genetic variations in TCF7L2 are associated with susceptibility to non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]. NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood and insulin resistance.
The C to T variation (rs7903146)] tested in the DIETAGENE-WELLNESS test, is linked to an increased sensitivity to refined carbohydrates and saturated fats from diet. In addition, the SNP indicates the need for a regular or increased Physical activity.


Gene: CYP1A2*1F; cytochrome P450 1A2
SNP tested: –163A>C
Chromosome location: 15q24.1
Total publications on the gene: 252
Meta-Analysis: 30

This gene encodes a member of the cytochrome P450 superfamily of enzymes. Cytochromes P450 are a group of heme-thiolate monooxygenases. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke, but also in grilled meat. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. The enzyme's endogenous substrate is unknown; however It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics such as drugs (i.e. acetaminophen), Caffeine, Aflatoxin-B1, and PAHs. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin. CATALYTIC ACTIVITY: RH + reduced flavoprotein + O(2) = ROH +oxidized flavoprotein + H(2)O. COFACTOR: Heme group.
The CYP1A2*1F allele which is quite common (40 to 50%) is due to a substitution of a base in the non-coding region of the CYP1A2 gene and has the effect of decreasing the enzyme inducibility. Individuals who are homozygous for the CYP1A2*1F allele are 'slow' caffeine metabolizers. Thus for these individual increased intake of caffeine seems to be associated with a concomitant increase in the risk of non-fatal myocardial infarction (MI). The SNP tested in the DIETAGENE-WELLNESS test has been found associated to a change in the enzymatic rate that alters the production rate of bioactivated carcinogens and the metabolic clearance of caffeine.

Gene: ADH1C; Alcohol dehydrogenase 1C (class I), gamma polypeptide
SNP tested: Ile349Val
Chromosome location: 4q23
Total publications on the gene: 148
Meta-Analysis: 15

This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products.
Catalytic activity: An alcohol + NAD+ = an aldehyde or ketone + NADH. Cofactor: Zn ion.
Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster.
The SNP tested in the DIETAGENE-WELLNESS test is associate to a slower rate of ethanol oxidation and therefore to a reduced metabolic clearance.


Gene: GSTM1; Glutathione S-transferase mu 1
Variation tested: Ins/Del
Chromosome location: 1p13.3
Total publications on the gene: 1501
Meta-Analysis: 523

Eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. The Variation tested in the DIETAGENE-WELLNESS is associated with the loss of enzymatic function and impaired detoxification phase-II conjugation with glutathione.

Gene: GSTT1; Glutathione S-transferase theta 1
Variation tested: Ins/Del
Chromosome location: 22q11.23
Total publications on the gene: 1260
Meta-Analysis: 431

Glutathione S-transferase (GST) theta 1 (GSTT1) is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1 and GSTT2. The GSTT1 and GSTT2 share 55% amino acid sequence identity and both of them were claimed to have an important role in human carcinogenesis.
GSTT Conjugates reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Acts on 1,2-epoxy-3-(4-nitrophenoxy)propane, phenethylisothiocyanate 4-nitrobenzyl chloride and 4-nitrophenethyl bromide. Displays glutathione peroxidase activity with cumene hydroperoxide.
The catalytic reaction is: RX + glutathione = HX + R-S-glutathione
Found in erythrocyte. Expressed at low levels in liver. In lung, expressed at low levels in Clara cells and ciliated cells at the alveolar/bronchiolar junction. Absent from epithelial cells of larger bronchioles.
The GSTT1 gene is absent from 38% of the population. The presence or absence of the GSTT1 gene is coincident with the conjugator (GSST1+) and non-conjugator (GSTT1-) phenotypes respectively. The GSTT1+ phenotype can catalyze the glutathione conjugation of dichloromethane, a metabolic pathway that had been shown to be mutagenic in Salmonella typhimurium mutagenicity tester strains and was believed to be responsible for the carcinogenicity of dichloromethane in the mouse.
Individual differences in the metabolism of methyl bromide, ethylene oxide, and methylene chloride in human blood have been attributed to the genetic polymorphism of GSTT1. Genotoxic effects such as induction of sister chromatid exchanges (SCE) after exposure of human blood to methyl bromide and other agents in vitro were found to be more pronounced in non-conjugators. GST has been implicated in detoxifying mutagenic electrophilic compounds; patients with reduced ability to metabolize environmental carcinogens or toxins may be at risk of developing aplastic anemia. Among the aplastic anemia patients, 17.5% had chromosomal abnormalities at the time of diagnosis, and all aplastic anemia patients with chromosomal abnormalities showed GSTT1 gene deletions.
The Variation tested in the DIETAGENE-WELLNESS is associated with the loss of GSTT1 enzymatic function and impaired detoxification phase-II conjugation with glutathione.


Gene: SOD2 ; Superoxide dismutase 2, mitochondrial
Variation tested: C-28T
Chromosome location: 6q25.3
Total publications on the gene: 298
Meta-Analysis: 58

This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen, destroying radicals which are normally produced within the cells and which are toxic to biological systems. Catalytic reaction: 2 superoxide + 2 H+ = O2 + H2O2 (cofactor: 1Mn ion per subunit)
Alternate transcriptional splice variants, encoding different isoforms, have been characterized. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Genetic variation in SOD2 is associated with susceptibility to microvascular complications of diabetes type 6 (MVCD6) [MIM:612634]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis.
The SNP tested in the DIETAGENE-WELLNESS test is associated with a reduced anti-radical capacity of SOD2.


Gene: IL-6 ; interleukin 6 (interferon, beta 2)
Variation tested: G-174C
Chromosome location: 7p21
Total publications on the gene: 119
Meta-Analysis: 159

This gene encodes a cytokine that functions in inflammation and the maturation of B cells. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including susceptibility to diabetes mellitus and systemic juvenile rheumatoid arthritis (RASJ) [MIM:604302]. Genetic variations in IL6 may be correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture.
The SNP tested in the DIETAGENE-WELLNESS is associated to an increased level of the cytokine and hence to an increased level of general inflammation.

Gene: TNF; Tumor Necrosis Factor (TNF-alpha)
Variation tested: G-308A
Chromosome location: 6p21.3
Total publications on the gene: 1932
Meta-Analysis: 245

This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. TNF-alpha is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. It is a potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, and cancer. Knockout studies in mice also suggested the Neuroprotective function of this cytokine.
Genetic variations in TNF influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424]. TNF it is also involved in disease and its Genetic variations are a cause of susceptibility to psoriatic arthritis (PSORAS) [MIM:607507]. PSORAS is an inflammatory, seronegative arthritis associated with psoriasis. It is a heterogeneous disorder ranging from a mild, non-destructive disease to a severe, progressive, erosive arthropathy.
The SNP tested in the DIETAGENE-WELLNESS test is in the promoter region and influence the level of TNF-alpha expression, hence having a direct impact on the general inflammation.


Gene: VDR; vitamin D (1,25-dihydroxyvitamin D3) receptor
Variation tested: C>T (taq1)
Chromosome location: 12q13.11
Total publications on the gene: 767
Meta-Analysis: 45

This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors.
Regulates transcription of hormone sensitive genes via its association with the WINAC complex, a chromatin-remodeling complex. Recruited to promoters via its interaction with the WINAC complex subunit BAZ1B/WSTF, which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. Genetic variations in VDR may determine Mycobacterium tuberculosis susceptibility [MIM:607948].
Defects in VDR are the cause of rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]. A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism.
A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins.
The polymorphism tested in the DIETAGENE-WELLNESS test is localized in the exon 9 of the VDR gene at the restriction site of the endonuclease Taq1; it consists of a nucleotide change from C to t; the allele T is also defined as Allele T, whereas the nucleotide C is also defined as Allele t. This polimorphism has been associated to a reduced bone mineral density (BMD).

Gene: COL1A1 ; Collagen, type I, alpha 1
SNP tested: G>T (S/s)
Chromosome location: 17q21.33
Total publications on the gene: 149
Meta-Analysis: 13

This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon and ligaments. In bones the fibrils are mineralized with calcium hydroxyapatite.
Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.
Defects in COL1A1 are a cause of osteogenesis imperfecta type 1 (OI1) [MIM:166200], type 2A (OI2A) [MIM:166210], type 3 (OI3) [MIM:259420], and type 4 (OI4) [MIM:166220]. Mutations in this gene are associated with Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis.Genetic variations in COL1A1 are a cause of susceptibility to osteoporosis (OSTEOP) [MIM:166710]; also known as involutional or senile osteoporosis or postmenopausal osteoporosis. Osteoporosis is characterized by reduced bone mass, disruption of bone microarchitecture without alteration in the composition of bone. Osteoporotic bones are more at risk of fracture. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor.
The SNP tested in the DIETAGENE-WELLNESS test is located at the polymorphic site Sp1 in the regulatory region 5-prime untranslated region (UTR) of the gene COL1A1 and it has been associated, both in homozygote (ss) and heterozygote forms (Ss) to an altered bone micro-architecture and increased relative risk of 2.97 (95% confidence interval 1.63-9.56) for vertebral fracture in individuals who carried the 's' allele. It has been reported that common polymorphic variants in the 5-prime UTR of COL1A1 regulate transcription by affecting DNA-protein interactions, and that increased levels of transcription correlated with reduced BMD values in vivo by altering the normal 2:1 ratio between alpha-1(I) and alpha-2(I) chains. While the mechanisms that underlie this association remained to be defined, the COL1A1 Sp1 polymorphism appeared to be an important marker for low bone mass and vertebral fracture, raising the possibility that genotyping at this site may be of value in identifying women who are at risk of osteoporosis.


Gene: 5HTT(SLC6A4); solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Variation tested: 44bp ins
Chromosome location: 17q11.2
Total publications on the gene: 1162
Meta-Analysis: 116

This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma.
A polymorphism in the promoter region (5-HTT gene-linked polymorphic region, 5-HTTLPR) is located approximately 1 kb upstream of the transcription initiation site and is composed of 16 repeat elements. The polymorphism consists of a 44-bp insertion or deletion involving repeat elements 6 to 8. The short allele is associated with lower transcriptional efficiency of the promoter compared with the long allele. Over half of the Caucasian population has a short allele. Individuals with one or two copies of the short allele exhibit more depressive symptoms, diagnosable depression and suicidality in relation to stressful life events than individuals homozygous for the long allele. In addition, this polimorphism may play a role in sudden infant death syndrome and aggressive behavior in Alzheimer disease patients.
The polymorphism Val-425 seems to be linked to a susceptibility to obsessive-compulsive disorder (OCD) . Genetic variations in SLC6A4 determine the genetic susceptibility to alcoholism [MIM:103780].
The variation testes in the DIETAGENE-WELLNESS test is the presence or absence of the short allele (s), that is associated with susceptibility to depression in response to stressful events.


Gene: LCT; Lactase
Variation tested: -13910-CT
Chromosome location: 2q21
Total publications on the gene: 72
Meta-Analysis: -

The protein encoded by this gene belongs to the family 1 of glycosyl hydrolases. The protein is integral to plasma membrane, localized in the intestinal brush border, and has both phlorizin hydrolase activity and lactase activity.
Catalytic reactions of LCT are: 1) Lactose + H2O = D-galactose + D-glucose. 2)Glycosyl-N-acylsphingosine + H2O = N-acylsphingosine + a sugar.
Defects in LCT are the cause of congenital lactase deficiency (COLACD); also known as hereditary alactasia or disaccharide intolerance II. Congenital lactase deficiency is a an autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, adult-type hypolactasia, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down-regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT.
The SNP tested in the DIETAGENE-WELLNESS test is the C/T(-13910) variant that occurs approximately 14 kb upstream of the LCT gene (603202) and affects a binding site of transcription factor AP-2 (see 107580). The C allele, associated with lactase non-persistence, is in the consensus binding motif, whereas the T variant disrupts this motif, allowing somehow gene expression. Note that this test is not a diagnostic test: a person with lactase deficiency may still be tolerant to lactose as a result of the gust lactobacilli flora. However, persons intolerant to lactose do have lack of LCT expression.


Gene: HLA-DQ2 and DQ8; major histocompatibility complex, class II
HLA-DQ alleles tested: DQA1*0201, DQA1*0501, DQA1*03, DQB1*02, DQB1*0301, DQB1*0302, DRB1*04, DRB1*07, DRB1*0301, DRB1*11, DRB1*12
Chromosome location: 6p21.3
Total publications on genes and celiac disease: 208
Meta-Analysis: 16
GWAS: 10

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins. It is characterized by INFLAMMATION AND atrophy of the mucosa of the upper small intestine, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. Manifestations include diarrhea, malabsorption, steatorrhea, and nutritional and vitamin deficiencies.
Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children. Greater awareness of the presentation of celiac disease and the availability of accurate serologic tests led to the realization that the disorder is relatively common, affecting 1 of every 120 to 300 persons in both Europe and North America. The prevalence of celiac disease among Finnish schoolchildren is at least 1 case in 99 children. With a prevalence close to 1%, celiac disease is the most common food intolerance in general western populations.
A susceptibility to celiac disease has been found to be genetically determined by possession of specific HLA-DQ alleles (major histocompatibility complex, class II) on chromosome 6p21.3; this region has been designated CELIAC1. The class II MHC proteins are heterodimers of one alfa and one beta- transmembrane chains, with highly variable N-terminal domains (alfa-1 and beta-1) and two Ig-like conserved domains closed to the cell membrane. Class II MHC proteins play a central role in the immune system by presenting peptides derived from extracellular proteins and are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). On chromosome 6 there are three types of genes that encode for Class II MHC protein: DP (encodes for α and β), DQ (encodes for α and β), DR (encodes for α and 2 β). Depending on the parent allele contribution, there could be several types of MHC class II. HLA-DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients; a minority of patients displays HLA-DQ8 (heterodimer of DQA1*03/DQB1*03:02).
The DIETAGENE-WELLNESS test analyses the DNA-sample from oral mucosa by PCR-SSP (allele-specific primer) to determine the presence of the HLA alleles:
DQA1*0201, DQA1*0501, DQA1*03, DQB1*02, DQB1*0301, DQB1*0302, DRB1*04, DRB1*07, DRB1*0301, DRB1*11, DRB1*12.
On the whole, 11 HLA-alleles are tested. The result is visualized by agarose gel electrophoresis. The association of alleles defines the serological HLA DQ2 and DQ8 haplotypes which give predisposition to celiac disease. It has to be noted that this is not a diagnostic test of celiac disease and that the presence of DQ2 and DQ8 means an increased probability of having the disease; it is sensible to perform additional diagnostic analysis to verify the presence of the disease. On the contrary, the negativity to DQ2 and DQ8 let exclude the presence of the disease.


Gene: IL-6, GSTM1, GSTT1
Increased pro-inflammatory IL-6 level and impaired detoxification enzymatic activity may increase the sensitivity to the contact allergen nichel.
See IL-6, GSTM1, GSTT1

Come avere la Nutrizione Personalizzata?

1. Ordina la consulenza genetica e ricevi il materiale per il prelievo orale 2. Spedisci il campione di saliva e cellule della bocca
4. Ordini i tuoi integratori personalizzati 3. Ricevi il Report Nutri-Genetico sulla tua pagina web personale (15 - 20 giorni)


L’offerta DIETAGENE®-Wellness

  • Test DIETAGENE®-Wellness con dieta dimagrante: 270€

Altri servizi della stessa categoria