Links to SNPedia
Title |
Summary |
rs1799990 G/G
|
Normal |
rs1799990 A/A
|
Increased chance of prion disease (prp 129 met homozygote)
}}
this genotype encodes for a homozygous methionine at position 129 of [[prnp]], the prion protein gene (prp-129mm). unlike the protective m/v heterozgotes, homozygosity at this residue is associated with an increased susceptibility to [[prion disease]] (such as [[creutzfeldt-jakob]])
all reported cases of [[vcjd]], (linked to ingestion of 'mad cow disease' contaminated meat) have been 129 met homozygous {{pmid|22505363 |
rs1799990 A/G
|
Resistance to prion disease (prp 129 met/val heterozygote)
}}
this genotype codes for met/val heterozygote at codon 129 in [[prp]], the prion protein. this is strongly protective against development of [[prion disease]], including sporadic and infectious [[creutzfeldt-jakob disease]].
studies in papua new guinea showed that this genotype prevents transmission of [[kuru]] {{pmid|19923577 |
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
Publications on this SNP on the Public Library of Science:
Publications on this SNP on Mendeley
Evidence compiled by the Personal Genome Project
Gene |
Impact |
Trait |
Summary |
Inheritance |
PRNP |
Low clinical importance, protective |
|
This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. |
other |
Publications listed by Genome.gov
Users who share this SNP: