Table 5. Genetic variations associated with responses to nutrient intake.
| Gene (rs number) | Variants | Function | Dietary factor | Phenotypic traits |
|---|---|---|---|---|
| FTO gene (rs1558902/rs9939609) | T;A | Plays a key role in metabolism and is linked to weight and BMI | Protein/SFA:PUFA | Individuals with an A allele of the FTO gene (gene variant rs1558902) who consumed a high-protein diet were more likely to have a higher BMI and an increased risk of obesity compared to TT allele carriers [32,33,34]. Additionally, people carrying an A allele of the FTO gene had a higher risk of obesity compared to TT homozygotes when SFA intake was high and PUFA intake was low [35]. |
| BCMO1 gene (rs11645428) | G;A | Encodes a gene that is a key enzyme in the conversion of beta-carotene to vitamin A | Vitamin A | Individuals carrying the GG genotype do not efficiently convert dietary provitamin A carotenoids into the active forms of vitamin A and may have a higher risk of vitamin A deficiency [38]. |
| CYP2R1 gene (rs10741657) | A;G | Encodes the enzyme 25-hydroxylase related with vitamin D activation and is associated with vitamin D binding and transport to tissues | Vitamin D | Participants with the GG or GA genotype of CYP2R1 (rs10741657) have an increased risk of low levels of 25(OH)D3 [39,40,41]. |
| GSTT1 gene | Ins/Del | Involved in vitamin C utilization through glutathione S-transferase enzymes | Vitamin C | Individuals with the GSTT1 Del/Del genotype are at higher risk of serum ascorbic acid deficiency when consuming less than the RDA of vitamin C compared to those with the Ins allele [37]. |
| FUT2 gene (rs602662) | G;A | Involved in vitamin B12 cell transport and absorption | Vitamin B12 | Carriers of the G alleles possess a higher risk of low vitamin B12 serum levels when they consumed diets with low bioavailable sources of vitamin B12 compared to AA genotype carriers [42]. |
| GC gene (rs7041 and rs4588) | A;C and G;T | Encodes a protein that binds to vitamin D and transports it to target tissues | Calcium | Individuals homozygous for the G allele of rs7041 and the C allele of rs4588 have an increased fracture risk compared to other genotypes when they consumed a low-calcium diet (< 1.09 g/day) [43]. |
| MTHFR gene (rs1801133) | C677T | Produces the enzyme methylenetetrahydrofolate reductase (MTHFR), which is involved in the conversion of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate | Folate | Individuals carrying the T allele have a higher risk of low serum folate levels due to a lower MTHFR enzymatic activity [44]. MTHFR gene mutations are associated with neural tube defects, vascular disease, and hyperhomocysteinemia [45,46]. |
| HFE gene (rs1800562) | G;A | Encodes a membrane protein that is similar to MHC class-I protein and is associated with beta2-microglobulin, which in turn are associated with iron absorption regulation by modulating the interaction between transferrin receptor and transferrin | Iron | Individuals with the AA genotype of the HFE gene rs1800562 are associated with a higher risk of hemochromatosis compared to those with the G allele [47]. |
| TMPRSS6 gene (rs4820268), TF gene (rs7385804), and TFR2 gene (rs3811647) | G;A, C;A, and G;C | Involved in the regulation of the expression of hepcidin, a peptide hormone that modulates iron absorption | Iron | Individuals carrying the GG genotype in the TMPRSS6 gene have an increased risk of low hemoglobin and transferrin saturation compared to those with the A allele [48,49,50]. Individuals with the AA genotype of the TF gene tended to have a higher risk of elevated transferrin and low ferritin compared to those carrying the C allele [50,51]. Polymorphisms in the TFR2 gene can affect red blood cell count, hematocrit, and mean corpuscular volume, and individuals homozygous for the CC genotype have a higher risk of low serum levels [50]. |
BMI, body mass index; SFA, saturated fatty acid; PUFA, polyunsaturated fatty acid; RDA, recommended dietary allowance.