title: The TT genotype of the C677T polymorphism in the methylentetrahydrofolate reductase as a risk factor in thrombotic microangiopathies: results from a pilot study.
abstract: In this study, we assessed the potential role of the TT genotype of the gene of the methylenetetrahydrofolate reductase for the manifestation of thrombotic microangiopathies, enrolling 40 affected patients (mean age [+/- standard deviation] 35 +/- 11 years). As a result, the methylenetetrahydrofolate reductase 677TT genotype was more prevalent in patients with thrombotic microangiopathies compared with controls (adjusted odds ratio = 2.58, 95% confidence interval = 1.2-5.7, P = .018), particularly in those suffering from the hemolytic uremic syndrome. A hemolytic more severe clinical course of thrombotic microangiopathies in carriers of the methylenetetrahydrofolate reductase 677TT genotype was not observed. In summary, our findings suggest a significant influence of the methylenetetrahydrofolate reductase genotype on the manifestation of thrombotic microangiopathies. The 677 TT genotype of this polymorphism appears to be a risk factor for manifestation of these rare thrombotic disorders, possibly explained by endothelial activation and increased oxidative stress.
authors.affiliation: Department of Hemostasis and Transfusion Medicine, Heinrich Heine University Medical Center, Dusseldorf, Germany. sucker@med.uni-duesseldorf.de
authors.forename: Christoph
authors.initials: C
authors.lastname: Sucker
authors.forename: Christine
authors.initials: C
authors.lastname: Kurschat
authors.forename: Firuseh
authors.initials: F
authors.lastname: Farokhzad
authors.forename: Gerd R
authors.initials: GR
authors.lastname: Hetzel
authors.forename: Bernd
authors.initials: B
authors.lastname: Grabensee
authors.forename: Beate
authors.initials: B
authors.lastname: Maruhn-Debowski
authors.forename: Robert
authors.initials: R
authors.lastname: Loncar
authors.forename: Rudiger E
authors.initials: RE
authors.lastname: Scharf
authors.forename: Rainer B
authors.initials: RB
authors.lastname: Zotz
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006463:Hemolytic-Uremic Syndrome / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D010865:Pilot Projects; D011110:Polymorphism, Genetic; D011697:Purpura, Thrombotic Thrombocytopenic / Q000201:enzymology / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)