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rs1799990(A;A)

From SNPedia

Increased chance of Prion Disease (PrP 129 Met homozygote)
Is agenotype
ofrs1799990
GenePRNP
Chromosome20
Position4,699,605
mentionedby
Magnitude2.3
ReputeBad
Geno Mag Summary
(A;A) 2.3 Increased chance of Prion Disease (PrP 129 Met homozygote)
(A;G) 2.1 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
(G;G) 2 Resistance to vCJD (PrP 129 Val homozygous), 1.7x reduced risk of sporadic CJD and 0.87x reduced risk for late-onset Alzheimer in a Caucasian population

This genotype encodes for a homozygous Methionine at position 129 of PRNP, the Prion Protein gene (PrP-129MM). Unlike the protective M/V heterozgotes and V homozygous, homozygosity at this residue is associated with an increased susceptibility to sporadic CJD and and confers susceptibility against vCJD.

All reported cases of vCJD, (linked to ingestion of 'mad cow disease' contaminated meat) have been 129 Met homozygous [PMID 22505363]