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Nutrigenetics

Nutrigenetics

Twelve loci across four chapters where your genome shapes how you eat, absorb, and process from caffeine and alcohol to vitamins, fats, and taste.

Co vaše zpráva obsahuje

12 znaků, které analyzujeme

Energy & Appetite

The signals that govern how your body handles stimulants and reads its own hunger: caffeine clearance and the appetite circuitry at FTO.

  • Appetite & Fat Response

    FTO sits within the most replicated obesity-associated locus in the genome. Despite its name, the mechanism is neurological — variants here influence appetite signalling and satiety in the hypothalamus, not fat storage directly.

    Možné výsledky: Lower genetic predisposition · Moderate predisposition · Higher predisposition

  • Caffeine Metabolism

    CYP1A2 controls how quickly your liver clears caffeine. Fast metabolisers process it in around four hours; slow metabolisers can take more than eight — meaning an afternoon espresso may still be active in your system at midnight.

    Možné výsledky: Slow metaboliser · Intermediate metaboliser · Fast metaboliser

Alcohol Metabolism

The two-step enzyme pathway that turns alcohol into acetaldehyde and then clears it — and the variants that decide how comfortably your body handles a drink.

  • Acetaldehyde Clearance

    ALDH2 clears acetaldehyde — the toxic intermediate produced when the liver breaks down alcohol. The rs671 A variant dramatically reduces enzyme activity, causing acetaldehyde to accumulate with each drink. This polymorphism has major clinical significance in populations of East Asian descent.

    Možné výsledky: Efficient clearance · Reduced clearance · Near-absent clearance

  • Alcohol Breakdown Rate

    ADH1B catalyses the first step of alcohol metabolism—oxidizing ethanol to acetaldehyde. Variants at position 48 (His48Leu, His48Arg, His48Pro) encode faster-metabolizing enzymes, producing acetaldehyde more rapidly after drinking. The swift accumulation of this toxic intermediate produces an aversive response—flushing, nausea, and discomfort—that is strongly protective against heavy drinking and alcohol dependence.

    Možné výsledky: Typical metabolism · Faster first-pass · Rapid first-pass

Vitamins & Minerals

How efficiently your cells transport, activate, and respond to vitamin D, folate, and iron — the micronutrients where genotype shapes your set-point.

  • Vitamin D Response

    This VDR variant (BsmI) is located in intron 8 at the 3' end of the vitamin D receptor gene and influences VDR mRNA stability and expression. The vitamin D receptor mediates nearly all of vitamin D's biological effects, from bone mineralisation and calcium regulation to immune function. The quantity and activity of the receptor protein itself influences how effectively circulating vitamin D exerts its effects in target tissues.

    Možné výsledky: Higher receptor activity · Intermediate activity · Lower receptor activity

  • Vitamin D Transport

    GC encodes vitamin D–binding protein (DBP), the carrier that transports vitamin D through the bloodstream. The G allele (minor, ~27% frequency) is associated with lower DBP levels and represents one of the strongest common genetic determinants of circulating 25(OH)D, independent of sun exposure or supplementation.

    Možné výsledky: Higher carrier levels · Intermediate carrier levels · Lower carrier levels

  • Folate & Homocysteine

    MTHFR (methylenetetrahydrofolate reductase) recycles folate into the active methyl form your body uses to clear homocysteine and support DNA methylation. The variant at position 677 encodes a temperature-sensitive enzyme with reduced activity — most pronounced when dietary folate is low.

    Možné výsledky: Full enzyme activity · Mildly reduced activity · Reduced activity

  • Iron Overload (C282Y)

    The HFE C282Y substitution disrupts the protein that signals the gut to throttle iron absorption when stores are sufficient. It is the principal genetic cause of hereditary hemochromatosis — iron can accumulate silently over decades in organs not designed to store it. The reference allele G is the ancestral wild-type; the alternate allele A carries the disease-causing mutation.

    Možné výsledky: No disease variant · Carrier (one copy) · Homozygous (high risk)

  • Iron Absorption (H63D)

    HFE H63D is a missense variant resulting in histidine-to-aspartate at position 63, which mildly affects iron sensing. On its own it rarely causes iron overload, but when inherited alongside C282Y (compound heterozygosity) it can modestly increase iron absorption and slightly elevate clinical risk.

    Možné výsledky: Standard iron regulation · One HFE variant · Two HFE variants

Diet, Fats & Taste

Dairy tolerance, the conversion of plant fats into the omega-3s your body uses, and the bitter-taste receptor that shapes what you reach for in the first place.

  • Lactose Tolerance

    A variant in MCM6, upstream of the lactase gene LCT, controls whether lactase production persists into adulthood or fades after childhood — the ancestral pattern across most of the world. Whether dairy sits comfortably with you has a significant genetic component.

    Možné výsledky: Likely lactose intolerant · Partial tolerance · Lactase persistent

  • Omega-3 Conversion

    FADS1 encodes a rate-limiting enzyme in converting short-chain plant omega-3 (ALA) into the long-chain EPA and DHA your brain, heart, and immune system actually use. This conversion efficiency varies dramatically between individuals, influenced by regulatory variants that control FADS1 expression. The variant rs174537 is an intronic regulatory site that modulates FADS1 activity.

    Možné výsledky: Efficient converter · Intermediate conversion · Less efficient conversion

  • Bitter Taste Sensitivity

    TAS2R38 encodes a bitter taste receptor found on the tongue and throughout the gut and airways. The PAV haplotype (Proline-Alanine-Valine) determines enhanced sensitivity to bitter compounds—glucosinolates in brassicas, caffeine, hops, and other phenolic compounds. The AVI haplotype (Alanine-Valine-Isoleucine) carries reduced sensitivity to these compounds.

    Možné výsledky: Non-bitter taster · Intermediate sensitivity · Strong bitter taster

Reference

  1. dbSNP reference SNP record (rs762551). NCBI dbSNP
  2. Cornelis et al., 2006. Coffee, CYP1A2 genotype, and risk of myocardial infarction. JAMA
  3. Brooks et al., 2009. The alcohol flushing response: an unrecognized risk factor for esophageal cancer from alcohol consumption. PLoS Medicine
  4. dbSNP reference SNP record (rs671). NCBI dbSNP
  5. dbSNP reference SNP record (rs1229984). NCBI dbSNP
  6. Edenberg HJ, 2007. The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants. Alcohol Research & Health
  7. Uitterlinden et al., 2004. Genetics and biology of vitamin D receptor polymorphisms. Gene
  8. dbSNP reference SNP record (rs1544410). NCBI dbSNP
  9. Wang et al., 2010. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. The Lancet
  10. dbSNP reference SNP record (rs2282679). NCBI dbSNP
  11. Frosst et al., 1995. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genetics
  12. dbSNP reference SNP record (rs1801133). NCBI dbSNP
  13. Feder et al., 1996. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genetics
  14. dbSNP reference SNP record (rs1800562). NCBI dbSNP
  15. dbSNP reference SNP record (rs1799945). NCBI dbSNP
  16. Gochee PA, Powell LW, Cullen DJ, Du Sart D, Rossi E, Olynyk JK, 2002. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology
  17. Enattah et al., 2002. Identification of a variant associated with adult-type hypolactasia. Nature Genetics
  18. dbSNP reference SNP record (rs4988235). NCBI dbSNP
  19. dbSNP reference SNP record (rs174537). NCBI dbSNP
  20. Ameur et al., 2012. Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. American Journal of Human Genetics
  21. dbSNP reference SNP record (rs713598). NCBI dbSNP
  22. Kim et al., 2003. Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Science

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