标题：Can {APOE} and {MTHFR} polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?
摘要：Abstract Background The clinical phenotype of Pseudoxanthoma elasticum (PXE) affected patients, although progressive with age, is very heterogeneous, even in the presence of identical {ABCC6} mutations, thus suggesting the occurrence of modifier genes. Beside typical skin manifestations, the cardiovascular (CV) system, and especially the peripheral vasculature, is frequently and prematurely compromised. Methods and results A cohort of 119 Italian {PXE} patients has been characterized for apolipoprotein E (APOE) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms by PCR. The severity of the clinical phenotype has been quantified according to the Phenodex {PXE} International score system. Statistical analysis (chi2 test, odd ratio, regression analysis, analysis of variance) were done by GraphPad. Data demonstrate that the frequency of {APOE} alleles is similar in {PXE} patients and in healthy subjects and that the allelic variant {E2} confers a protection against the age-related increase of {CV} manifestations. By contrast, {PXE} patients are characterized by high frequency of the MTHFR-T677T polymorphism. With age, {CV} manifestations in T677T, but also in C677T, patients are more severe than those associated with the {C677C} genotype. Interestingly, compound heterozygosity for {C677T} and {A1298C} polymorphisms is present in 70% of {PXE} patients. Conclusions {PXE} patients may be screened for these polymorphisms in order to support clinicians for a better management of disease-associated {CV} complications.
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