title: MTHFR C677T, FII G20210A, FV Leiden G1691A, NOS3 intron 4 VNTR, and APOE epsilon4 gene polymorphisms are not associated with spontaneous cervical artery dissection.
abstract: OBJECTIVE
  The pathogenesis of spontaneous cervical artery dissection remains unknown. We examined the association between different polymorphisms frequently found in young patients with cryptogenic stroke [methylenetetrahydrofolate reductase (MTHFR) C677T, factor II (prothrombin) G20210A, factor V G1691A (Leiden), nitric oxide synthase 3 (NOS3) intron 4 VNTR, and apolipoprotein E (APOE) epsilon4 gene] in patients with a cerebral infarct caused by spontaneous cervical artery dissection.
  
  
  METHODS
  Forty-eight patients (27 males) and 96 matching control subjects were recruited. Clinical history, including cardiovascular risk factors, was assessed in all subjects. Genotypes were determined by a polymerase chain reaction with and without a restriction fragment length polymorphism. The genotypes and allele frequencies of the five genetic variants studied were compared between spontaneous cervical artery dissection cases and controls. We also incorporated our data into a meta-analysis of the MTHFR/C677T variant.
  
  
  RESULTS
  Of 48 patients with spontaneous cervical artery dissection (28 vertebral and 20 carotid), the mean age of the patients was 36.6 +/- SD 9.9 years. There were no significant associations between the alleles of the five genetic polymorphisms studied and spontaneous cervical artery dissection. In the meta-analysis of the MTHFR/C677T variant, a total of 564 individuals (231 cases and 333 controls) were analysed; no significant association was observed.
  
  
  CONCLUSIONS
  The results from this exploratory case-control study show the lack of an association between MTHFR, factor II G20210A, factor V G1691A, NOS3, intron 4 VNTR, and APOE epsilon4 gene polymorphisms and the development of spontaneous cervical artery dissection. Our findings contribute towards a better understanding of the genetic risk factors associated with spontaneous cervical artery dissection.
authors.affiliation: Department of Neurogenetics, National Institute of Neurogenetics and Neurosurgery, Manuel Velasco Suárez of Mexico, Mexico City, Mexico.
authors.forename: A
authors.initials: A
authors.lastname: Jara-Prado
authors.forename: M E
authors.initials: ME
authors.lastname: Alonso
authors.forename: L
authors.initials: L
authors.lastname: Martínez Ruano
authors.forename: J
authors.initials: J
authors.lastname: Guerrero Camacho
authors.forename: A
authors.initials: A
authors.lastname: Leyva
authors.forename: M
authors.initials: M
authors.lastname: López
authors.forename: P
authors.initials: P
authors.lastname: Gutierrez-Castrellon
authors.forename: A
authors.initials: A
authors.lastname: Arauz
mesh_terms: D000328:Adult; D001057:Apolipoproteins E / Q000235:genetics*; D003710:Demography; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017211:Treatment Failure; D016896:Treatment Outcome; D020217:Vertebral Artery Dissection / Q000201:enzymology / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; C095381:factor V Leiden; D005165:Factor V; C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III; D042965:Methylenetetrahydrofolate Reductase (NADPH2)