Evolution of Crohn’s disease-associated Nod2 mutations

  title={Evolution of Crohn’s disease-associated Nod2 mutations},
  author={Christoph Gasch{\'e} and Manuela Nemeth and Paul Grundtner and Claudia Willheim-Polli and P Ferenci and Robert Schwarzenbacher},
Several lines of evidence have confirmed the importance of Nod2 mutations for disease susceptibility in Crohn’s disease. For tracing Nod2 evolution, exons 4a, 4e, 8, and 12 mutations were screened in a collection of 1,064 DNA samples from 52 worldwide populations. The overall allele frequency was 7.5% for single nucleotide polymorphism (SNP)5, 0.2% for SNP8, 0.3% for SNP12, and 0.4% for SNP13. Nod2 mutations are mainly Caucasian alleles with strong distribution dissimilarity between single… CONTINUE READING


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Genetic variants in the NOD2/CARD15 gene are associated with early mortality in sepsis patients

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