title: Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR.
abstract: BACKGROUND
  Clinical assessment and prognostic stratification of primary varicose veins have remained controversial and the molecular pathogenesis is unknown. Previous data have suggested a contribution of the MTHFR (methylenetetrahydrofolate reductase) polymorphism c.677C>T.
  
  
  METHODS
  We collected blood and vein specimens from 159 consecutive patients undergoing varicose vein surgery, or autologous vein reconstruction for arterial occlusive disease as controls. We compared the frequencies of c.677C>T and another polymorphism of MTHFR, c.1298A>C, with morphology and types of complicated disease. Morphology was recorded as a trunk or perforator type and peripheral congestive complication was defined as chronic venous insufficiency (CEAP C3-6) associated with edema and skin manifestations.
  
  
  RESULTS
  Multivariate analysis of genotypes for c.677C>T and c.1298A>C indicated that c.677C>T was associated significantly with the trunk phenotype (43/53 patients, 81%, p < 0.01), while c.1298A>C was associated significantly with the perforator phenotype (18/24 patients, 75%, p < 0.01) of primary varicose veins. Accordingly, when both c.677C>T and c.1298A>C displayed a heterozygous genotype, the patients were more likely to present with both phenotypes. Additionally, c.1298A>C was found to be strongly linked to the congestive complication (34/51 patients, 67%, p < 0.01).
  
  
  CONCLUSIONS
  Both polymorphisms of MTHFR may be involved in the morphological specification of primary varicose veins and contribute to the development of complicated disease.
  
  
  BACKGROUND
  None.
authors.affiliation: City Clinic Center of Solingen, 42653 Solingen, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Wilmanns
authors.affiliation: Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
authors.forename: Alexis
authors.initials: A
authors.lastname: Cooper
authors.affiliation: Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
authors.forename: Leesa
authors.initials: L
authors.lastname: Wockner
authors.affiliation: Johanniter-Hospital, 47288 Duisburg, Germany.
authors.forename: Sotirios
authors.initials: S
authors.lastname: Katsandris
authors.affiliation: Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
authors.forename: Nadine
authors.initials: N
authors.lastname: Glaser
authors.affiliation: Johanniter-Hospital, 47288 Duisburg, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Meyer
authors.affiliation: Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
authors.forename: Oliver
authors.initials: O
authors.lastname: Bartsch
authors.affiliation: Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
authors.forename: Harald
authors.initials: H
authors.lastname: Binder
authors.affiliation: Maria-Hilf-Hospital, 54550 Daun, Germany.
authors.forename: Paul Karl
authors.initials: PK
authors.lastname: Walter
authors.affiliation: Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Zechner
mesh_terms: D002908:Chronic Disease; D005260:Female; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic; D014648:Varicose Veins / Q000201:enzymology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)