Polymorphism of apoprotein E (APOE), methylenetetrahydrofolate reductase (MTHFR) and paraoxonase (PON1) genes in patients with cerebrovascular disease

Although controversial, data on the genetic polymorphism of apoprotein E (A POE), methylenetetrahydrofolate (MTHFR) and paraoxonase (PON1) genes implic ate their role in the development of cerebrovascular disease. The aim of th is study was to assess the association of polymorphism of APOE, MTHFR and P ON1 genes in 56 stroke and 36 carotid stenosis patients, and in 124 control subjects by PCR-restriction fragment length polymorphism analysis. In the stroke group a significantly different MTHFR genotype distribution ( p=0.004, odds ratio for T/T of 17.571), but no significant difference in AP OE and PON1 allele and genotype distribution compared to the control was fo und. The carotid stenosis group exhibited a significantly different APOE al lele and genotype distribution (p=0.023, odds ratio APOE epsilon3 epsilon4 of 4.24), but no significant difference in the MTHFR and PON1 allele and ge notype distribution from the control group. The preliminary results obtaine d in this study revealed an association of the MTHFR and APOE gene polymorp hism with cerebrovascular disease, suggesting a significant risk for stroke in subjects who are homozygous for the T allele and for carotid stenosis i n subjects having APOE epsilon3 epsilon4 genotype. Additional studies in la rger patient groups are needed to confirm these observations.