title: Polymorphism of apoprotein E (APOE), methylenetetrahydrofolate reductase (MTHFR) and paraoxonase (PON1) genes in patients with cerebrovascular disease.
abstract: Although controversial, data on the genetic polymorphism of apoprotein E (APOE), methylenetetrahydrofolate (MTHFR) and paraoxonase (PON1) genes implicate their role in the development of cerebrovascular disease. The aim of this study was to assess the association of polymorphism of APOE, MTHFR and PON1 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 APOE and PON1 allele and genotype distribution compared to the control was found. The carotid stenosis group exhibited a significantly different APOE allele and genotype distribution (p=0.023, odds ratio APOEepsilon3epsilon4 of 4.24), but no significant difference in the MTHFR and PON1 allele and genotype distribution from the control group. The preliminary results obtained in this study revealed an association of the MTHFR and APOE gene polymorphism with cerebrovascular disease, suggesting a significant risk for stroke in subjects who are homozygous for the T allele and for carotid stenosis in subjects having APOEepsilon3epsilon4 genotype. Additional studies in larger patient groups are needed to confirm these observations.
authors.affiliation: Clinical Institute of Chemistry, School of Medicine, University of Zagreb and Sestre milosrdnice University Hospital, Croatia. elizabeta.topic@zg.tel.hr
authors.forename: E
authors.initials: E
authors.lastname: Topić
authors.forename: A M
authors.initials: AM
authors.lastname: Simundić
authors.forename: M
authors.initials: M
authors.lastname: Ttefanović
authors.forename: V
authors.initials: V
authors.lastname: Demarin
authors.forename: V
authors.initials: V
authors.lastname: Vuković
authors.forename: A
authors.initials: A
authors.lastname: Lovrencić-Huzjan
authors.forename: I
authors.initials: I
authors.lastname: Zuntar
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D043303:Aryldialkylphosphatase; D002561:Cerebrovascular Disorders / Q000235:genetics*; D004950:Esterases / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D016017:Odds Ratio; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors; D020521:Stroke / Q000235:genetics
chemical_list: D001057:Apolipoproteins E; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D004950:Esterases; D043303:Aryldialkylphosphatase; C468406:PON1 protein, human