Lack of correlation between C-reactive protein polymorphism and severity in Gaucher disease

Mici Phillips, Deborah Elstein*, Amnon Lahad, Ari Zimran, Gheona Altarescu

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


There has been increasing evidence for multi-systemic inflammation in Gaucher disease with various sustained inflammatory reactions having been reported. C-Reactive Protein (CRP) is strongly associated with inflammation and concentrations are correlated with risk for atherosclerotic and other systemic adverse events. To determine the frequency of polymorphisms of CRP as a marker of inflammation in Gaucher disease and to ascertain the relationship between CRP and measures of Gaucher severity and other parameters of inflammation, genotyping for the 1059 G→C polymorphism in exon 2 of the CRP gene was performed in 101 adult patients with Gaucher disease. The CRP genotype results were correlated with severity score index, avascular necrosis, spleen status, need for treatment, Gaucher genotype, and with inflammation markers, C3, C4, IgA, IgG, IgM. The prevalence of allelic variants of CRP was 92% G/G (wild type) and 7.9% G/C and C/C (polymorphisms). This distribution was similar to the distribution previously reported in Caucasians (10.8% G/C and C/C). No statistically significant correlation was found between the CRP genotypes and disease severity markers or inflammation parameters. Although there is increasing evidence for inflammation in pathogenesis of Gaucher disease, CRP polymorphisms are apparently not a genetic modifier in Gaucher disease.

Original languageAmerican English
Pages (from-to)35-37
Number of pages3
Issue number1
StatePublished - Mar 2004


  • CRPpolymorphisms
  • Cytokines
  • Gaucher disease
  • Inflammation


Dive into the research topics of 'Lack of correlation between C-reactive protein polymorphism and severity in Gaucher disease'. Together they form a unique fingerprint.

Cite this