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Population distribution of the methionine allele at the PRNP codon 129 polymorphism in Europe and the Middle East

Géraldine Mercier1, Florent Diéterlen, Gérard Lucotte

  • 1Institute of Molecular Anthropology, 44 rue Monge, 75005 Paris, France.

Human Biology
|August 30, 2008
PubMed

Insights

The prion protein gene M129V polymorphism varies geographically in Europe and the Middle East. Methionine allele frequencies show a gradient, potentially impacting Creutzfeldt-Jakob disease risk.

Area of Science:

  • Genetics
  • Neuroscience
  • Population Studies

Background:

  • Methionine homozygosity (Met/Met) at codon 129 of the prion protein gene (PRNP) is a known risk factor for Creutzfeldt-Jakob disease (CJD).
  • Understanding the M129V polymorphism distribution in normal populations is crucial for prion disease research.
  • Geographic variations in PRNP M129V allele frequencies may influence disease susceptibility.

Purpose of the Study:

  • To investigate the M129V polymorphism distribution in 2201 individuals from 15 populations in Europe and the Middle East.
  • To analyze geographic heterogeneity and correlations with environmental factors.

Main Methods:

  • Genotyping of the PRNP M129V polymorphism in a large cohort of normal subjects.
  • Statistical analysis of allele frequencies and their correlation with geographic coordinates (latitude and longitude).

Main Results:

  • Mean heterozygosity for the M129V polymorphism was 38.9% across the studied populations.
  • Significant geographic heterogeneity in allele frequencies was observed.
  • A significant negative correlation was found between methionine allele frequency and latitude (r = -0.77).
  • A significant positive correlation was found between methionine allele frequency and longitude (r = 0.69).
  • An east-west gradient of decreasing methionine allele frequencies was identified from the Middle East to Western Europe.

Conclusions:

  • The M129V polymorphism in the prion protein gene exhibits significant geographic variation across Europe and the Middle East.
  • These findings suggest an east-west gradient in methionine allele frequencies, potentially linked to geographic factors.
  • Further research into these population genetics may enhance understanding of prion disease epidemiology and risk.

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