Mechanism:

  • The A allele encodes a rare variant of the ADH1C gene that leads to a truncated alcohol dehydrogenase protein. This type of protein is involved in detoxification and may be linked to neurodegenerative diseases.

  • Glycine (Gly) (C)

  • Stop codon (X) (A)

  • SNP is said to explain 9.0% of the variability in the rate at which alcohol is metabolized, based on a study of 250 Spaniards (R).

  • Combinations of this SNP with others were shown to affect alcohol metabolism; most of these combinations are represented by the gs211 genoset. Note that the effects of alcohol are higher in individuals who break down (detoxify) ethanol more slowly.

  • This genoset looks for SNPs which influence ethanol biodisposition. This determines how strongly alcohol affects the individual (R)

The A (minor) allele is associated with:

  • A 3.25X increased risk for Parkinson's disease (for AC/AA....Swedes ~1000 patients vs. ~1000 controls) (R). 

  • Limited ability to metabolize alcohol and toxins. 

 

  • rs6413413
  • rs283413
  • rs1693482
  • rs698 (not on V4 23andme chip)

 

 

 

 

 

rs283413

Parent Gene: ADH1C

Importance: 3
Less common allele: A = 1%
More common allele: C = 99%
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