In the past decades, extensive usage of omic technologies applied to nutrition has led to the concept of personalised dietary recommendations. It is now widely accepted that gene–diet interaction is a complex, bidirectional mechanism: food components can modulate the flow of genetic information by regulating genes at transcriptional, translational and post‐translational levels, whereas the individual's genotype determines specific responses to nutrient intake. Genetic variants (that represent the focus of nutrigenetic studies) influence the metabolism of almost all macro‐ and micronutrients, thus differentially impacting on human health. Although still a young field of research, nutrigenetics appears to be a promising tool for monitoring susceptibility to chronic pathologies, as well as for designing personalised nutrition in order to prevent (or eventually treat) the most common Western diet‐associated diseases.

Key Concepts

  • Several lines of evidence indicate that diet is a key determinant of health status and that many chronic degenerative diseases (including obesity, diabetes, cardiovascular disease, cancer, neurodegenerative diseases) could be prevented by adopting a correct lifestyle.
  • Nutrigenetic studies indicate that there is a different susceptibility to development of these diseases in relation to food intake, due to specific genetic variants.
  • Nutrigenomic studies indicate that macronutrients, micronutrients and bioactive compounds can modulate gene expression, thus affecting physical and mental health.
  • Gene–diet interaction is a complex network; and data interpretation is not easy, as foods contain many components usually acting in combination and dietary patterns are quite variable.
  • It is not easy to translate scientific evidence into nutritional advice, because the organism is complex and different environmental and genetic factors have to be taken into account, especially considering the wide interindividual variability in metabolic responses.
  • Although holding strong promise, personalised nutrition is far from being applicable, as much accurate research is needed before application to dietetic practice.

Keywords: diet‐related diseases; gene–nutrient interaction; genome‐wide association studies; genotype; personalised nutrition; phenotype; single nucleotide polymorphism

Figure 1. Scheme of the lactose metabolism. On the brush border of enterocytes, the lactase enzyme breaks down lactose into β‐glucose and β‐galactose. The two monosaccharides are taken up by the means of SGLT1 (sodium/glucose cotransporter member 1) transporter, through an active transport mechanisms; then, they pass to the bloodstream via diffusion facilitated by the glucose transporter GLUT2. People who are lactose intolerant don't express enough lactase and lactose reaches the large intestine, where it causes water retention; in addition, lactose is metabolised by intestinal bacteria, generating hydrogen and carbon dioxide gases, as well as short chain fatty acids, which irritate the gastrointestinal tract. Symptoms of lactose intolerance (gas, abdominal pain, and diarrhoea) occur 1–2 h after drinking or eating lactose‐containing foods.
Figure 2. Energy balance. Energy balance represents equilibrium between energy intake (in terms of food intake) and total energy expenditure (TEE). The basal metabolic rate represents the energy required for maintaining cellular metabolism and vital activities; it is influenced by genetics, hormones, age, gender, size and body composition. The thermic effect of feeding (10–15% of TEE) represents the process of thermogenesis induced by diet. Physical activity represents the energy expenditure with the greater variability: in highly active individuals, physical activity may be up to 50% and, therefore, the basal metabolic rate contributes to TEE for only 50%. Energy excess can be stored as glycogen (muscle and liver) or triacylglycerols (muscle, adipose tissue, liver, mammary gland, etc.). An individual is said to be in positive energy balance when food intake exceeds TEE (and therefore energy stores increase), and weight gain will occur; negative energy balance occurs when energy intake is less than TEE, thus leading to weight loss.
Figure 3. Scheme of the one‐carbon metabolism pathway. Methyl groups are supplied by diet (serine, choline and methionine). Vitamin B6 is required for generation of 5,10‐methylenetetrahydrofolate [THF(‐CH2‐)], which is then reduced to 5‐methyltetrahydrofolate (THF‐CH3), the major form of folate in the bloodstream, through a reaction catalysed by the FAD/NADPH‐dependent methylenetetrahydrofolate reductase (MTHFR). 5‐Methyltetrahydrofolate donates the methyl group to homocysteine in order to produce methionine, by the action of vitamin B12‐dependent methionine synthase. In the , methionine is converted into S‐adenosylmethionine (SAM), which represents the methyl donor for different substrates. As an alternative, homocysteine can be shifted to the , being metabolised to cysteine via the sequential action of two vitamin B6‐dependent enzymes. The folate cycle is crucial for , as 5,10‐methylenetetrahydrofolate is needed for thymidilate generation, while 10‐formyltetrahydrofolate (THF‐CHO) is involved in purine synthesis. SAHcy, S‐adenosylcysteine; THF(‐CH=), 5,10‐methenyltetrahydrofolate.


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Savini, Isabella, Gasperi, Valeria, and Catani, Valeria M(Jul 2016) Nutrigenetics. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0021028]