title: The methylenetetrahydrofolate reductase gene C677T polymorphism in patients with homozygous sickle cell disease and stroke.
abstract: Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism may cause hyperhomocysteinaemia, a recognized risk factor for stroke, in individuals with folate deficiency. Homozygous sickle cell (SS) disease is associated both with increased demands for folic acid and a tendency to develop stroke. We therefore investigated a possible role of the MTHFR C677T polymorphism in SS disease patients with stroke. Investigation of the frequency of the polymorphism in 48 patients with stroke and in 48 age-, sex- and racially-matched SS controls without stroke failed to reveal a difference between the groups (Fisher exact test, P = 0.99). Homozygosity for the MTHFR C677T polymorphism is unlikely to be a risk factor for stroke in this population with SS disease.
authors.affiliation: University Department of Haematology, Royal Infirmary, Manchester, UK. tcumming@labmed.cmht.nwest.nhs.uk
authors.forename: A M
authors.initials: AM
authors.lastname: Cumming
authors.forename: A
authors.initials: A
authors.lastname: Olujohungbe
authors.forename: S
authors.initials: S
authors.lastname: Keeney
authors.forename: H
authors.initials: H
authors.lastname: Singh
authors.forename: C R
authors.initials: CR
authors.lastname: Hay
authors.forename: G R
authors.initials: GR
authors.lastname: Serjeant
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000235:genetics*; D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors; D020521:Stroke / Q000235:genetics*
chemical_list: D008754:Methylenetetrahydrofolate Dehydrogenase (NADP)