title: The population distribution of the Met allele at the PRNP129 polymorphism (a high risk factor for Creutzfeldt-Jakob disease) in various regions of France and in West Europe.
abstract: The present study has been conducted to ascertain the level of allelic variation at codon 129 of the prion protein gene in France. Six French populations have been studied (Paris, Lille, Rennes, Chambéry, Grasse and Perpignan), totalling 1374 normal subjects. Mean heterozygosity in France is 46.5%, and the mean Met 129 allele (a high risk susceptibility factor for Creutzfeldt-Jakob disease) is 0.674. There is a genetic heterogeneity (chi(2)=38.44, p<0.001) between the six populations compared, and Met allele frequencies are inversely correlated with latitude (r=-0.93, p<0.01). Such an inverse correlation with latitude (r=-0.78, p=0.01) is also found when Met allele frequencies in France are compared to those already published in five other European countries and in Turkey. We hypothesise that high Met 129 frequencies populations may be at higher risk for Creutzfeldt-Jakob disease.
authors.affiliation: Centre de Neurogénétique Moléculaire, 44 rue Monge, Paris 75005, France. lucotte@hotmail.com
authors.forename: Gérard
authors.initials: G
authors.lastname: Lucotte
authors.forename: Géraldine
authors.initials: G
authors.lastname: Mercier
mesh_terms: D000682:Amyloid / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D005060:Europe; D005602:France; D005787:Gene Frequency; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*; D012307:Risk Factors; D014421:Turkey
chemical_list: D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors