HFE p.C282Y gene variant is associated with varicose veins in Russian population

Clin Exp Med. 2016 Aug;16(3):463-70. doi: 10.1007/s10238-015-0377-y. Epub 2015 Sep 28.


Recently, the association of polymorphism rs1800562 (p.C282Y) in the hemochromatosis (HFE) gene with the increased risk of venous ulceration was shown. We hypothesized that HFE gene polymorphism might be involved not only in ulceration process, but also in susceptibility to primary varicose veins. We genotyped HFE p.C282Y (rs1800562) and p.H63D (rs1799945) variants in patients with primary varicose veins (n = 463) and in the control group (n = 754). In our study, p.282Y variant (rs1800562 A allele) was significantly associated with the risk of varicose veins (OR 1.79, 95 % CI = 1.11-2.89, P = 0.02). A borderline significant reverse association of p.63D variant (rs1799945 G allele) with venous leg ulcer development was revealed in Russians (OR 0.25, 95 % CI = 0.06-1.00, P = 0.05), but not in the meta-analysis (P = 0.56). We conclude that the HFE gene polymorphism can affect the risk of developing primary varicose veins.

Keywords: Hemochromatosis gene; Primary varicose veins.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Substitution*
  • Female
  • Gene Frequency
  • Genes
  • Genetic Predisposition to Disease*
  • Hemochromatosis Protein / genetics*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Russia
  • Varicose Veins / genetics*
  • Young Adult


  • HFE protein, human
  • Hemochromatosis Protein