NR ATSE
AU Mitrova,E.; Mayer,V.; Jovankovicova,V.; Slivarichova,D.; Wsolova,L.
TI Creutzfeldt-Jakob disease risk and PRNP codon 129 polymorphism: necessity to revalue current data.
QU European Journal of Neurology 2005 Dec; 12(12): 998-1001
PT journal article
AB The polymorphism at codon 129 (M129V) of the prion protein gene (PRNP) is a recognized genetic marker for susceptibility to Creutzfeldt-Jakob disease (CJD) in the Caucasians. The distribution of this polymorphism in healthy individuals provides an important starting point for the evaluation of CJD risk in the general population. Early studies of reference population cohorts demonstrated that methionine/valine heterozygosity was the most frequent genotype. These studies were performed in relatively small numbers of control subjects and do not correspond with the findings of more recent investigations. In this study, we present an analysis of the codon M129V distribution in 613 corneal donors, representing one of the largest control groups examined to date. Methionine homozygotes represented 48.1%, valine homozygotes 8.7% and methionine/valine heterozygotes 43.2%. While age-related difference was not significant, differentiation according to the gender showed significant difference. The observed highest proportion of methionine homozygotes and statistically significant difference between genders as well as comparison with results obtained in other countries underline the need to re-evaluate the generally used reference data on M129V, including consideration of the gender, age and geographical distribution.
IN Unter 613 menschlichen Spendern von Augenhornhaut waren hinsichtlich des Codons 129 im Prionproteingen 48,1% Met/Met-homozygot, 8,7% VAl/Val-homozygot und 43,2% Met/Val-heterozygot.
MH Amyloid/*genetics; Codon/genetics; Creutzfeldt-Jakob Syndrome/*genetics; European Continental Ancestry Group/genetics; Female; *Gene Frequency; *Genetic Predisposition to Disease; Humans; Male; *Polymorphism, Genetic; Protein Precursors/*genetics; Research Support, Non-U.S. Gov't; Risk Factors; Sex Factors
AD Department of Prion Diseases, Institute of Preventive and Clinical Medicine, Research Base of Slovak Medical University, Bratislava, Slovak Republic. eva.mitrova@szu.edu
SP englisch
PO England