Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR
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 collecte...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2015-02-01
|
| Series: | EBioMedicine |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352396415000298 |
| _version_ | 1818178796039176192 |
|---|---|
| author | Christoph Wilmanns Alexis Cooper Leesa Wockner Sotirios Katsandris Nadine Glaser Alexander Meyer Oliver Bartsch Harald Binder Paul Karl Walter Ulrich Zechner |
| author_facet | Christoph Wilmanns Alexis Cooper Leesa Wockner Sotirios Katsandris Nadine Glaser Alexander Meyer Oliver Bartsch Harald Binder Paul Karl Walter Ulrich Zechner |
| author_sort | Christoph Wilmanns |
| collection | DOAJ |
| description | 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 < 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).
Interpretation: Both polymorphisms of MTHFR may be involved in the morphological specification of primary varicose veins and contribute to the development of complicated disease.
Funding: None. |
| first_indexed | 2024-12-11T20:53:40Z |
| format | Article |
| id | doaj.art-6993e76304564198ad52cfeebe628a57 |
| institution | Directory Open Access Journal |
| issn | 2352-3964 |
| language | English |
| last_indexed | 2024-12-11T20:53:40Z |
| publishDate | 2015-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | EBioMedicine |
| spelling | doaj.art-6993e76304564198ad52cfeebe628a572022-12-22T00:51:10ZengElsevierEBioMedicine2352-39642015-02-012215816410.1016/j.ebiom.2015.01.006Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFRChristoph Wilmanns0Alexis Cooper1Leesa Wockner2Sotirios Katsandris3Nadine Glaser4Alexander Meyer5Oliver Bartsch6Harald Binder7Paul Karl Walter8Ulrich Zechner9City Clinic Center of Solingen, 42653 Solingen, GermanyInstitute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, GermanyInstitute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, GermanyJohanniter-Hospital, 47288 Duisburg, GermanyInstitute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, GermanyJohanniter-Hospital, 47288 Duisburg, GermanyInstitute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, GermanyInstitute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, GermanyMaria-Hilf-Hospital, 54550 Daun, GermanyInstitute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, GermanyBackground: 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 < 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). Interpretation: Both polymorphisms of MTHFR may be involved in the morphological specification of primary varicose veins and contribute to the development of complicated disease. Funding: None.http://www.sciencedirect.com/science/article/pii/S2352396415000298 |
| spellingShingle | Christoph Wilmanns Alexis Cooper Leesa Wockner Sotirios Katsandris Nadine Glaser Alexander Meyer Oliver Bartsch Harald Binder Paul Karl Walter Ulrich Zechner Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR EBioMedicine |
| title | Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR |
| title_full | Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR |
| title_fullStr | Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR |
| title_full_unstemmed | Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR |
| title_short | Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR |
| title_sort | morphology and progression in primary varicose vein disorder due to 677c t and 1298a c variants of mthfr |
| url | http://www.sciencedirect.com/science/article/pii/S2352396415000298 |
| work_keys_str_mv | AT christophwilmanns morphologyandprogressioninprimaryvaricoseveindisorderdueto677ctand1298acvariantsofmthfr AT alexiscooper morphologyandprogressioninprimaryvaricoseveindisorderdueto677ctand1298acvariantsofmthfr AT leesawockner morphologyandprogressioninprimaryvaricoseveindisorderdueto677ctand1298acvariantsofmthfr AT sotirioskatsandris morphologyandprogressioninprimaryvaricoseveindisorderdueto677ctand1298acvariantsofmthfr AT nadineglaser morphologyandprogressioninprimaryvaricoseveindisorderdueto677ctand1298acvariantsofmthfr AT alexandermeyer morphologyandprogressioninprimaryvaricoseveindisorderdueto677ctand1298acvariantsofmthfr AT oliverbartsch morphologyandprogressioninprimaryvaricoseveindisorderdueto677ctand1298acvariantsofmthfr AT haraldbinder morphologyandprogressioninprimaryvaricoseveindisorderdueto677ctand1298acvariantsofmthfr AT paulkarlwalter morphologyandprogressioninprimaryvaricoseveindisorderdueto677ctand1298acvariantsofmthfr AT ulrichzechner morphologyandprogressioninprimaryvaricoseveindisorderdueto677ctand1298acvariantsofmthfr |