title: Distribution of codon 129 genotype in human growth hormone-treated CJD patients in France and the UK.
abstract: 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.
authors.affiliation: 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>
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Brandel
authors.forename: Michael
authors.initials: M
authors.lastname: Preece
authors.forename: Paul
authors.initials: P
authors.lastname: Brown
authors.forename: Esther
authors.initials: E
authors.lastname: Croes
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Laplanche
authors.forename: Yves
authors.initials: Y
authors.lastname: Agid
authors.forename: Robert
authors.initials: R
authors.lastname: Will
authors.forename: Annick
authors.initials: A
authors.lastname: Alpérovitch
mesh_terms: 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
chemical_list: D003062:Codon; D018620:PrPSc Proteins; D019382:Human Growth Hormone