Distribution of codon 129 genotype in human growth hormone-treated CJD patients in France and the UK.
Since homozygosity MM at codon 129 of the prion protein gene is a recognised risk factor in all forms of Creutzfeldt-Jakob disease (CJD), we studied the distribution of codon 129 polymorphism in patients in France and in the UK with CJD transmitted iatrogenically by human growth hormone. The overall frequencies of codon 129 genotypes in these patients differed from those in the population unaffected by CJD. An excess of VV homozygotes was noted among those with iatrogenic CJD compared with sporadic CJD cases. The proportion of MM genotype in UK patients was surprisingly low (4%) compared with that in French patients (62%). There is no evident explanation for this different distribution, which might be due to infection with different strains of prion in human growth hormone.
Brandel
Jean-Philippe
JP
National Reference Centre of Iatrogenic CJD, Salpêtrière Hospital, 75651 Cedex 13, Paris, France. jean-philippe.brandel@psl.ap-hop-paris.fr <jean-philippe.brandel@psl.ap-hop-paris.fr>
Preece
Michael
M
Brown
Paul
P
Croes
Esther
E
Laplanche
Jean-Louis
JL
Agid
Yves
Y
Will
Robert
R
Alpérovitch
Annick
A
D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000635:transmission*; D005602:France; D006720:Homozygote; D019382:Human Growth Hormone / Q000009:adverse effects*; D006801:Humans; D007049:Iatrogenic Disease; D011110:Polymorphism, Genetic; D018620:PrPSc Proteins / Q000235:genetics*; D012307:Risk Factors; D006113:United Kingdom
D003062:Codon; D018620:PrPSc Proteins; D019382:Human Growth Hormone