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A genetic study of chronic venous insufficiency.

Abstract

BACKGROUND
Chronic venous insufficiency (CVI) is an important cause of morbidity in Western countries. The aim of this study is to demonstrate the heredity of CVI, focusing on molecular and genetic aspects of the disease.
METHODS
The study depended on the recruitment of informative families, accurate determination of the phenotype of each family member, and blood sample for DNA extraction for genetic analysis. Each family member was invited to attend a vascular consultation. A genealogical tree for each recruited family was composed. Then, a peripheral blood sample for DNA extraction from each member of the recruited families was obtained for genetic evaluation.
RESULTS
By the evaluation of genealogical trees, it was evident that CVI segregates, in all families studied, in an autosomal dominant mode with incomplete penetrance. In nine families studied, varicose veins were linked to the candidate marker D16S520 on chromosome 16q24, which may account for the linkage to FOXC2.
CONCLUSION
In our study, in families with affected patients with the D16S520 marker, there was evidence of saphenofemoral junction reflux. The fact that there is linkage to a candidate marker for the FOXC2 gene suggests there is a functional variant within, or in the vicinity of, which predisposes to varicose veins. Further studies are necessary to identify genes and mechanism so as to achieve better understanding of the genetic basis of CVI.

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  • Publisher Full Text
  • Authors

    Serra R, Buffone G, de Franciscis A, Mastrangelo D, Molinari V, Montemurro R, de Franciscis S

    Institution

    Unit of Vascular Surgery, Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Catanzaro, Italy. rserra@unicz.it

    Source

    Annals of vascular surgery 26:5 2012 Jul pg 636-42

    MeSH

    Adolescent
    Adult
    Aged
    Aged, 80 and over
    Child
    Child, Preschool
    Chromosomes, Human, Pair 16
    Chronic Disease
    Female
    Forkhead Transcription Factors
    Genetic Predisposition to Disease
    Heredity
    Humans
    Italy
    Male
    Middle Aged
    Pedigree
    Phenotype
    Ultrasonography, Doppler, Duplex
    Venous Insufficiency
    Young Adult

    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    22664280