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rs283413

Chromosome : 4 , Position: 99347033

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: C

Alternative Alleles: A, C

Associated Genes

ADH1C

ADH1B

ADH1A

ADH7

ADH6

C4ORF17

ADH4

MTTP

TRMT10A

ADH5

C4ORF54

METAP1

EIF4E

DAPP1

Summary

rs283413, also known as c.232G>T, p.Gly78Ter, G78stop and Gly78X, encodes a rare variant of the ADH1C gene that leads to a truncated alcohol dehydrogenase protein. These types of proteins are involved in detoxification and may be linked to neurodegenerative diseases. The rs283413(G) allele is the more common, encoding the amino acid glycine (Gly); the quite rare rs283413(T) allele encodes the variant stop codon (X).

Originally identified in three Swedish patients with Parkinson’s disease (PD), a study of ~1000 PD patients vs. ~1000 controls indicated an odds ratio for the risk allele of 3.25 (CI:1.31-8.05). [This risk is effectively for heterozygotes, since the risk allele is so rare that no homozygotes for it were observed.] In a study of 40 index cases, 10% were found to harbor the rs283413(T) risk allele. [PMID 15642852]

On its own, this SNP is also said to explain 9.0% of the variability in the rate at which alcohol is metabolized, based on a study of 250 Spaniards.[PMID 20101753] More significantly (in a statistical sense), this study concluded that combinations of this SNP and 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 (basically, detoxify) ethanol more slowly.

[PMID 17273965] Evidence of positive selection on a class I ADH locus.

[PMID 18852891] Distribution and effects of nonsense polymorphisms in human genes.

More Information

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)

Population Alleles Frequency

ethhicity frequency	A	C
African/African-American	–	0.9985
Latino/Admixed American	–	0.98
Ashkenazi Jewish	–	0.9207
East Asian	–	0.9987
European	–	0.9906
Other (population not assigned)	–	0.9899

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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rs283413

Associated Genes

Summary

More Information

Population Alleles Frequency

Frequently Asked Questions

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Individual DNA Reports

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