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. Author manuscript; available in PMC: 2015 Apr 29.
Published in final edited form as: Annu Rev Food Sci Technol. 2011;2:97–123. doi: 10.1146/annurev.food.102308.124147

Table 1. Interactions between essential nutrients and gene polymorphisms on clinical outcomes.

Nutrient Gene polymorphism Effects on nutrient status Clinical manifestations References

Calcium Calcium sensing receptor (CASR) A986S Loss of function for calcium, associated with higher serum calcium, and higher urinary calcium excretion Association with bone mineral density (Laaksonen et al. 2009)

Selenium Missense mutation in selenium binding protein 2 (SBP2) Causes defective selenocysteine insertion sequence (SECIS)-driven selenocysteine incorporation, downregulates expression of selenoproteins Defective thyroid function (Hesketh 2008)

Iron Human hemochromatosis protein (HFE) 187C>G or 845G>A Bothl87C>G or 845G>A associated with iron overload (hemochromatosis) Iron overload, liver cirrhosis, and cardiomyopathy, especially in diets high in iron (Hulgan et al. 2008)

Folate 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C>T Causes a 70% reduction in MTHFR activity, hyperhomocysteinemia and reduced plasma folate concentration Hyperhomocysteinemia is associated with increased risk of coronary heart disease, neural tube defects, occlusive vascular disease and breast cancer. In carriers, sufficient folate dietary intake decreases risk of colorectal cancer, and deficiencies increase risk of colorectal cancer (Ericson et al. 2009, Friso & Choi 2002, Hustad et al. 2004, Messika et al. 2010, Simopoulos 2010)

Sodium Angiotensin gene (AGT) nucleotide –6 G>A, The A substitution in AGT affects the interaction between at least one trans-acting nuclear factor and its promoter, resulting in increased gene transcription and increased angiotensin protein levels Carriers of the A allele respond to low sodium diets with reductions in blood pressure; GG genotype is not salt-sensitive (Simopoulos 2010)

Vitamin D Vitamin D binding protein DBP-1 (rs7041, exon 11 T>G) and DBP-2 (rs4588, exon 11C>A) SNPs for DBP-1 and DBP-2 are inversely related to levels of circulating 25(OH) vit D3 in premenopausal women Unclear whether carriers would benefit from dietary supplementation or sun exposure (Sinotte et al. 2009)

Vitamin K Vitamin K epoxide reductase complex subunit 1 (VKORC1)j – +2255T>C Associated with vitamin K recycling, vitamin K–dependent clotting factors and Warfarin resistance Increased risk of arterial vascular disease such as stroke, coronary heart disease, and aortic dissection (Suh et al. 2009)

Vitamin A β-carotene 15,15′-monoxygenase (BCMO1) R267S (rsl2934922) andA379V(rs7501331) Carriers of 267S or 267S + 379Vhave reduced activity in converting B-carotene to retinal Increased risk for vitamin A deficiency, when B carotene is the major dietary source (Leung et al. 2009)

Vitamin B12 (cobalamin) Methionine synthase TCN2 776C>G and 67A>G Causes hyperhomocysteinemia Associated with birth defects (Brouns et al. 2008)

Carbohydrates Beta-2-adrenergic receptors Q27E Unknown Higher risk of obesity in female carriers with carbohydrate intake >49% of energy (Martinez et al. 2003)

Omega 3 and 6 fatty acids Fatty acid desaturase, FADS SNP rs 174537 Lower plasma arachidonic and eicosapentaenoic acids and higher plasma alpha linolenic and linoleic acids in carriers of the minor allele versus noncarriers. The minor allele homozygotes (TT) have lower plasma total cholesterol and LDL-C compared with noncarriers (Tanaka et al. 2009)