• Nutrigenetics

Nutrigenetics studies the relationship between genetic heritage and food metabolism

Identification of genetic variants underlying individual response to specific nutrients

Nutrigenetics studies the relationship between genetic heritage and food metabolism, through the identification of genetic variants underlying individual response to specific nutrients. Molecular biology technologies have allowed to unveil a direct correlation between food and genes: people responds very differently to the same foods as human population presents high number of gene variants (polymorphisms). These can significantly modify gene expression or the functional efficiency of the relative protein. Gene polymorphisms (and the related consequences at the molecular level) can influence the way a nutrient is metabolized. They do not represent and determine a disease on its own; however, if the gene polymorphism is associated with an incorrect introduction of particular nutrients (DNA/environment interaction), it may result in a different predisposition towards specific pathological conditions. Large-scale analysis has shown that particular gene variants are associated with predisposition to diseases such as diabetes, cardiovascular disease, osteoporosis and even some forms of cancer. Some of these variants can also lead to increased susceptibility to certain food tolerances (e.g. lactose, gluten etc.).

Genechron offers the analysis of the following polymorphisms:


Celiac disease is an autoimmune disease towards Gliadin, a gluten protein contained in cereals such as wheat, barley and rye: the cells of the immune system activated by exposure to gluten, attack the mucosa of the small intestine and cause chronic inflammation, arriving to destroy intestinal villi. This damage determines a malabsorption syndrome and a state of malnutrition in the most severe cases. Celiac disease can be identified through serological research and biopsy of the duodenal mucosa. The genetic test for the determination of predisposing haplotypes (HLA-DQ2 and DQ8) allows to identify the presence of unfavorable variants that reveal a genetic predisposition


Fructose intolerance (Hereditary Fructose Intolerance, HFI) is a disease that prevents eating foods containing fructose, particularly fruits and vegetables. HFI is caused by the presence of mutations in the ALDOB gene that encodes an enzyme, fructose-1-phosphate aldolase, which allows fructose to be used for energy in the hepatic cell. The genetic test consists in the genotyping of the 4 most frequent ALDOB polymorphisms (del4E4, A150P, A175D, N335K) and allows to identify the mutations associated to the pathology.


The rate of metabolism of caffeine by our body depends on the presence of two variants of the CYP1A2 gene , which encodes the enzyme Cytochrome p450 1A2 and allows to metabolize caffeine : the CYP1A2*1A allelic variant encodes the enzyme that metabolises caffeine slowly, while the CYP1A2*1F allele encodes the one involved in rapid metabolism. The genetic test is aimed at identifying which variant of the CYP1A2 gene is present.


Sulphites, including sulfur dioxide, are substances used as preservatives and are used in the food industry in doses considered safe. However, in individuals who, due to a genetic predisposition, are "hypersensitive to sulphites", these doses can cause serious problems (eg neurotoxicity or development of some types of cancer). The analysis for sulphite intolerance concerns two genes related to sulfite metabolism: SUOX and CBS .


The reactions of hypersensitivity to nickel are of various kinds: cutaneous (dermatitis) or systemic (abdominal swelling, nausea, headache). The analysis for nickel intolerance concerns two genes involved: FLG (which encodes for the filaggrin) and TNFa (which encodes the alpha tumor necrosis factor). In particular, the 2882del4 mutation of the FLG gene and the 308G / A mutation of the TNFa gene are analyzed.


The sensitivity to alcohol arises from the presence of genetic defects that modify the production of the enzymes involved in the metabolism of alcohol and which result in an inability to metabolize correctly the amounts of alcohol taken. The most common signs and symptoms of alcohol sensitivity are nasal congestion and redness of the skin. The genetic test consists in the analysis of polymorphisms in three genes: ALDH2 (E504K), ADH2 (H48R), ADH1C (I350V) .


High levels of homocysteine in the blood represent a cardiovascular risk factor that can exacerbate the effects of other risk factors on the blood vessel wall. Cigarette smoke and dietary intake of folate and vitamin B12 are decisive in determining blood concentrations of homocysteine. High plasma homocysteine values are also correlated with repeated abortions and increased risk for thrombotic events. The genetic test consists in the analysis of the polymorphisms mentioned in the CBS, MTHFR, MTR, MTRR, TCN2 and genes and provides useful information to determine a personalized diet that allows decrease plasma levels of homocysteine and reduce cardiovascular risk.


The genetic analysis of polymorphisms (SNP) characteristic of each individual can be useful to predict the personal responses of the organism, following the introduction of certain foods or substances. The "Genetic predisposition to weight gain and obesity" panel studies the genetic variants of a series of genes ( SLC6A4 / 5HTTPLR, ADRA2B, APOA2, APOA5, FTO, NPY, PPARG, VEGF, FABP2, ADIPOq, ADRB1, ADRB2, ADRB3, GHSR, Leptin, MC4R ) that they determine a predisposition to increase weight, allowing to define personalized food strategies on the individual response to the introduced nutrients. The personalized diet regulates the introduction of foods that induce weight gain in relation to metabolic deficiencies due to genetic predisposition.


The "Athletic performance" panel is a DNA test aimed at identifying a series of polymorphisms that may involve changes in the functionality of some biological processes (for example increasing the predisposition to one sport discipline over another). The goal is to increase the level of sports performance in relation to the adoption of the most suitable food style through the analysis of polymorphisms in a series of genes ( ACE, ACTN3, CYP1A2, LCT, NOS3, VEGF ) involved in important metabolic processes such as controlling intolerances and predisposition to potency or resistance efforts. The test is recommended for those who practice sport at a competitive and amateur level to improve performance and better understand how to feed and train for better results.


The "Bone Metabolism and Osteoporosis" panel is a genetic test that analyzes a group of genes ( VDR, COL1A1, CTR, ESR1 ) involved in the regulation of the characters linked to the development of osteoporosis, such as mass and bone microarchitecture. Osteoporosis is the most common metabolic disease of the skeleton, characterized by a reduction in bone mass and an alteration of the microarchitecture, with consequent increase in the fragility and the probability of incurring a fracture. The onset of osteoporosis is the result of complex interactions between genetic predisposition and environmental risk factors. Environmental factors include eating habits (calcium and vitamin D intake), alcohol, tobacco and coffee consumption, physical activity, and intake of drugs that interfere with phospho-calcium metabolism.


Genetic test for lactose intolerance

Do you want to definitively discover if you are lactose intolerant? What is it Lactose intolerance is a clinical condition that occurs when the lactase enzyme is missing, able to split and digest lactose into glucose and galactose. The undigested lactose (and therefore not absorbed) remains in the intestine becoming a substrate available for the intestinal bacterial flora that fermenting it leads to the production of bothersome gases and diarrhea. The lactase reaches its maximum expression at birth and throughout the period in which breastfeeding is the exclusive nourishment of the child. With growth, its expression begins to decrease progressively, reflecting a genetic adjustment.

The test     Lactose intolerance is due to a variation in DNA, a C / T polymorphism at position -13910, in the MCM6 gene upstream of the lactase gene, in its regulatory region. If the variation is present in both copies of the gene, it can lead to a reduced / lack expression of this enzyme in the microvilli of the small intestine with a consequent lactase deficiency. The reduced expression means that as the years go by, lactose is digested less and less. Only those who have both copies of the mutated gene (homozygosis, CC genotype) are intolerant. The test provides a definitive answer to individual lactose intolerance.

Who is it for?     The test is aimed at all those people who exhibit a symptomatology characterized by abdominal swelling, diarrhea, intestinal gas, abdominal pain and cramps, nausea, flatulence.

How to run     The test is performed starting from a simple buccal swab or a blood sample.