Varicose Veins
Conditions
Brief summary
The existence of a family factor in the genesis of varicose veins is certain, but few studies have addressed reliably instead of the genetic factor in clinical and molecular level. The investigator initiated an original study to identify one or more genetic abnormalities predisposing to varicose disease, based on a combined approach of genetic linkage and of exome sequencing. The clinical research phase is an essential prerequisite to the identification of genetic mutations; it is to identify large affected families and ensure an extremely rigorous and accurate phenotyping of individuals over several generations. A first clinical work has identified and / or phenotype 8 families with a genetically informative family suggesting autosomal dominant inheritance. Linkage analysis suggested several candidate chromosomal regions without allowing the identification of a gene. This project aims to resume and expand the Family clinical investigations and apply the techniques of genome analysis points, including exome sequencing on the most informative families to identify the genes and mechanisms responsible of this disease and improve the prevention and the treatment of varicose veins.
Interventions
OTHERblood sample
Sponsors
Direction Générale de l'Offre de Soins
Nantes University Hospital
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
25 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Any patient consultant the Medicine Vascular Surgery for varicose veins of the lower limbs as part of a manifesto family context * Varices Presence in at least one family member * Written consent
Exclusion criteria
* Patients who are unable to sign or who refuse to sign an informed consent * Subjects aged less than 25 years, due to the low penetrance of varicose disease that age. * Secondary veins at a post-thrombotic disease (suspected by the examination and confirmed by Doppler ultrasonography of the deep venous system) * Venous angiodysplasia or secondary varicose arteriovenous fistulas.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| genetic abnormalities segregating with the presence of varicose veins in the informative families recruited. | year 4 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| genotype/phenotype relationship | year 4 | improving knowledge of the genotype / phenotype based on genes identified in different families. |
Countries
France
Outcome results
None listed