A genetic study of chronic venous insufficiency.
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.


CONCLUSIONS
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.
Unit of Vascular Surgery, Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Catanzaro, Italy. rserra@unicz.it
Raffaele
R
Serra
Gianluca
G
Buffone
Andrea
A
de Franciscis
Diego
D
Mastrangelo
Vincenzo
V
Molinari
Rossella
R
Montemurro
Stefano
S
de Franciscis
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16; D002908:Chronic Disease; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D018616:Ultrasonography, Doppler, Duplex; D014689:Venous Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
D051858:Forkhead Transcription Factors; C082078:mesenchyme fork head 1 protein