Methionine homozygosity at codon 129 of the prion protein gene is a risk factor for Creutzfeldt-Jakob disease. Knowledge of M129V polymorphism in normal populations may contribute to a better understanding of prion diseases. M129V polymorphism was studied in 2,201 normal subjects, originating from 15 populations from Europe and the Middle East. Mean heterozygosity in these populations is 38.9%, and there is some significant geographic heterogeneity between them. A comparison of M129 allele frequencies in these 15 populations to those already published for 8 European countries plus Turkey shows significant correlations with both latitude (r = −0.77) and longitude (r = 0.69). The geographic map of methionine allele frequencies indicates an east-west gradient of decreasing methionine allele values from the Middle East to Western Europe.
Mercier, Géraldine; Diéterlen, Florent; and Lucotte, Gérard
"Population Distribution of the Methionine Allele at the PRNP
Codon 129 Polymorphism in Europe and the Middle East,"
2, Article 5.
Available at: https://digitalcommons.wayne.edu/humbiol/vol80/iss2/5