• Nutrigenetics

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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:

C3175G and T3206G

C3175G and T3206G polymorphisms, present in the sequence of the gene APOC3 (Apolipoprotein C-III), have been associated with disorders in lipid metabolism and in particular with an increased risk of hypertriglyceridemia.

Cys112Arg and Arg158Cys polymorphisms in the gene that encodes the protein ApoE determine three major isoforms of the protein, ApoE2, APOE3 and ApoE4 which interact in a different way with the specific lipoprotein receptors, altering the circulating cholesterol levels.

C1595G polymorphism in the LPL gene encoding for the lipoprotein lipase causes a significant reduction in HDL, reduced blood pressure and low levels of triglycerides in patients with cardiovascular disease.

G-75A polymorphism in the ApoAI gene (apolipoprotein A1) encoding for a major protein component of HDL causes increased expression of the protein that allows to regulate the presence of cholesterol in the arteries, thus lowering the risk of vascular pathologies.

ApoB R3500Q variant of the LDL gene (encoding the ligand for the receptor of low density lipoprotein) is a genetic cause of hypercholesterolemia and it represents a risk in the development of cardiovascular diseases.

TaqI, BsmI and FokI polymorphisms in the VDR gene (encoding the nuclear receptor that mediates the Vitamin D functions) entail an altered gene transcription and they are associated with changes in bone mineral density, calcium absorption, in metabolic disorders and susceptibility to infectious diseases.

C-28T and T175C

C-28T and T175C polymorphism in the SOD2 gene (coding for the Manganese Superoxide dismutase, MnSOD) reduce the enzymatic and the potential antioxidant activity, causing an increase of the onset risk of pathologies related to the production of free radicals.

C760G polymorphism in the SOD3 gene (extracellular form of antioxidant enzymes) causes an high tendency to triglyceridemia  and increase in body weight and an increased risk of cardiovascular disease.

GSTM1 and GSTT1 genes belong to the family of glutathione S-transferase (GST). The absence of the enzymatic activity of these proteins leads to an increased probability of oxidative stress which can be related to the pathophysiology of various diseases such as several cancer typologies, atherosclerosis and diabetes mellitus.

ACE gene, encoding for the angiotensin-converting enzyme, is characterized by a polymorphism that can cause an insertion (I) or a deletion (D) of an alu sequence of 289bp in the intron 16. Both the homozygous DD and the heterozygous ID genotypes are associated with an increased risk of coronary heart and kidney disease, hypertension, atherosclerosis and an increased salt sensitivity.

Pro12Ala polymorphism of PPAR-γ gene, encoding the peroxisome proliferator-activated receptor-γ, is associated with an increased body mass, hypertension and a 25% reduction in the risk of type 2 diabetes caused by an increase in insulin sensitivity.

C-13910T and G-22018A polymorphisms of the LCT gene encoding for lactase have been related to hypolactasia in the adult, or decrease the activity of the lactase which leads to lactose intolerance.

C677T and A1298C

C677T and A1298C polymorphisms of the MTHFR gene cause a reduction of enzyme activity of the gene resulting in an altered level of homocysteine. Hyperhomocysteinemia is related to an increased tendency to thrombotic events, hypertension for arteriolar constriction, renal dysfunction, increased reabsorption of sodium and oxidative stress.

G-634C and G-174C polymorphisms in the gene encoding for interleukin 6 (IL6, proinflammatory and immunoregulatory cytokine) represent a risk factor for heart attack.

G308A polymorphism in the promoter of the gene encoding for TNF-α (tumor necrosis factor-alpha), increases gene transcription. The A allele was associated with susceptibility to hypertension and metabolic disorders.

Gly16Arg and Gln27Glu polymorphisms in ADRB2 gene, encoding the β2-adrenergic receptor, are related to clinical and pharmacological implications in cases of asthma, hypertension, ischemic heart failure, diabetes, obesity and cystic fibrosis.

Trp64Arg polymorphism in the ADRB3 gene, encoding for the β3-adrenergic receptor, is associated with some cardiovascular risk factors such as obesity, insulin resistance, early onset of non-insulin dependent diabetes mellitus and high blood pressure.

Leu7Pro polymorphism in the NPY gene encoding for the neuropeptide Y, is associated with higher concentrations of total cholesterol, LDL cholesterol and triglycerides in the serum.