Population Distribution of the Methionine Allele at the PRNP Codon 129 Polymorphism in Europe and the Middle East

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 1...

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Published in:Human biology 2008-04, Vol.80 (2), p.181-190
Main Authors: Mercier, Géraldine, Diéterlen, Florent, Lucotte, Gérard
Format: Article
Language:English
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Summary: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.
ISSN:0018-7143
1534-6617
DOI:10.3378/1534-6617(2008)80[181:PDOTMA]2.0.CO;2