OBJECTIVES: Recent studies have revealed the involvement of calcification inhibitory proteins in the pathogenesis of pseudoxanthoma elasticum (PXE). DESIGN AND METHODS: We analyzed serum concentrations of the calcification inhibitor matrix Gla protein (MGP) in a large cohort of patients suffering from PXE (n=101), 34 first-degree relatives and 67 healthy controls. Moreover, we determined the distribution of the two MGP promoter polymorphisms c.-7G>A and c.-138T>C in the three cohorts. RESULTS: We found significantly lower total MGP concentrations in the sera of PXE patients compared to healthy controls (p=0.0002). Furthermore, higher serum MGP concentrations could be correlated with a later PXE onset. Analysis of MGP promoter polymorphism frequencies revealed one MGP haplotype to be a potential protective co-factor in PXE. CONCLUSIONS: Our findings point to a role of the local calcification inhibitor MGP in PXE manifestation.
OBJECTIVES: Recent studies have revealed the involvement of calcification inhibitory proteins in the pathogenesis of pseudoxanthoma elasticum (PXE). DESIGN AND METHODS: We analyzed serum concentrations of the calcification inhibitor matrix Gla protein (MGP) in a large cohort of patients suffering from PXE (n=101), 34 first-degree relatives and 67 healthy controls. Moreover, we determined the distribution of the two MGP promoter polymorphisms c.-7G>A and c.-138T>C in the three cohorts. RESULTS: We found significantly lower total MGP concentrations in the sera of PXE patients compared to healthy controls (p=0.0002). Furthermore, higher serum MGP concentrations could be correlated with a later PXE onset. Analysis of MGP promoter polymorphism frequencies revealed one MGP haplotype to be a potential protective co-factor in PXE. CONCLUSIONS: Our findings point to a role of the local calcification inhibitor MGP in PXE manifestation.
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