title: A Study on Hereditary Thrombophilia and Stroke in a Cohort from Sri Lanka.
abstract: BACKGROUND
  Thrombophilia is an enhanced tendency of arterial or venous blood clot formation. The frequently assessed hereditary thrombophilia mutations associated with stroke are methylenetetrahydrofolate reductase (MTHFR) c.677C>T, Factor V (F5) c.1691G>A (Leiden), and prothrombin (F2) c.20210G>A. The aim of this study was to describe the prevalence of the 3 mutations in ischemic stroke patients in Sri Lanka.
  
  
  METHODS
  A database of clinical details and genetic test results of stroke patients referred for thrombophilia screening from June 2006 to April 2014 was maintained prospectively and analyzed retrospectively.
  
  
  RESULTS
  A total of 400 ischemic stroke patients (319 arterial, 66 venous, and 15 location unreported) were screened for hereditary thrombophilia. Patients with the MTHFR c.677C>T, F5 c.1691G>A, and F2 c.20210G>A mutations were 17.3%, 3.3%, and .5% of the total cohort, respectively. F5 mutation was present in a statistically significant number of patients with venous thrombosis (P = .005) compared to patients with arterial thrombosis. The MTFHR and F2 mutations showed no such significant association. The mean age of patients with MTHFR, F5, and F2 mutations was 29 (±15), 34 (±11), and 38 (±5.6) years, respectively.
  
  
  CONCLUSIONS
  MTHFR c.677C>T is the predominant mutation and the only mutation that had patients with the homozygous mutant genotype. Venous thrombosis showed a significant association with the F5 c.1691G>A mutation.
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.
authors.forename: Hasini A
authors.initials: HA
authors.lastname: Kalpage
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka. Electronic address: dulikasanjeewani@gmail.com.
authors.forename: Dulika S
authors.initials: DS
authors.lastname: Sumathipala
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.
authors.forename: Hemali W
authors.initials: HW
authors.lastname: Goonasekara
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.
authors.forename: Vajira H
authors.initials: VH
authors.lastname: Dissanayake
mesh_terms: D020016:Activated Protein C Resistance / Q000453:epidemiology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002545:Brain Ischemia / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D011401:Promoter Regions, Genetic / Q000235:genetics; D011516:Prothrombin / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D013188:Sri Lanka / Q000453:epidemiology; D019851:Thrombophilia / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: F5 Leiden; Stroke; hereditary thrombophilia; methylenetetrahydrofolate reductase; prothrombin