rs1799990(A;G)
Resistance to vCJD (PrP 129 Met/Val heterozygote), 4.6x reduced risk of sporadic CJD and 0.87x reduced risk for late-onset Alzheimer in a Caucasian population
- Magnitude
- 2.1Worth knowing
- Repute
- Good
- Frequency
- 32%Average of 11 populations
- On SNPedia
- rs1799990(A;G)
- Gene
- PRNP
Frequency
Share of people with A;G in each HapMap population.
- Luhya (Kenya)51%
- Mexican ancestry (Los Angeles)50%
- African ancestry (Southwest US)46%
- Tuscan44%
- European ancestry (Utah)43%
- Yoruba (Nigeria)42%
- Gujarati Indian37%
- Maasai (Kenya)31%
- Han Chinese (Beijing)6%
- Japanese (Tokyo)4%
- Chinese (Denver)2%
Other genotypes of rs1799990
Notes
From SNPedia
This genotype codes for Met/Val heterozygote at codon 129 in PrP, the Prion Protein. This is strongly protective against development of sporadic, and confers resistance against vCJD. Studies in Papua New Guinea showed that this genotype prevents transmission of kuru , a form of Prion disease transmitted by cannibalism. So eat as many brains as you want! A total of 4228 cases and 4324 controls in 16 case-control studies were included in the meta-analysis. The results indicated that the variant V allele carriers (VV+MV) had a 13% decreased risk of AD, when compared with the homozygote MM A 2006 study compared 593 Germans with sporadic CJD (sCJD) to 748 healthy controls. The researchers found an unusual pattern - people with one copy of each variant at rs1799990, a SNP in the gene PRNP, were less likely to have sCJD compared to those who had two identical copies of either the A or G type. People with the AG genotype had 4.6 times lower odds of sCJD compared to those with AA; a G at both copies of the SNP reduced a subject's odds of having sCJD 1.7 times.PMID 17047093 All reported cases of vCJD, (linked to ingestion of 'mad cow disease' contaminated meat) have been 129 Met homozygous PMID 22505363
Source and license
Adapted from rs1799990(A;G) on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.