Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR

Autor: Christoph Wilmanns, Alexis Cooper, Leesa Wockner, Sotirios Katsandris, Nadine Glaser, Alexander Meyer, Oliver Bartsch, Harald Binder, Paul Karl Walter, Ulrich Zechner
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Zdroj: EBioMedicine, Vol 2, Iss 2, Pp 158-164 (2015)
Druh dokumentu: article
ISSN: 2352-3964
DOI: 10.1016/j.ebiom.2015.01.006
Popis: 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. Findings: 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 C was associated significantly with the perforator phenotype (18/24 patients, 75%, p 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
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