A genome-wide association study for varicose veins

Phlebology. 2022 May;37(4):267-278. doi: 10.1177/02683555211069248. Epub 2022 Jan 31.

Abstract

Background: The aim was to compare the genetic information of varicose vein patients with that of a healthy population attempting to identify certain significant genetic associations.

Method: Patients' clinical characteristics and demographics were collected, and their genetic samples were examined. The results were compared to the genetic information of one thousand sex-matched healthy controls from Taiwan Biobank database. The Clinical-Etiology-Anatomy-Pathophysiology classification was applied for further subgroup analysis.

Results: After comparison of genetic information of ninety-six patients to that of healthy controls, two significant single nucleotide polymorphisms (SNPs) were identified. One was in DPYSL2 gene, and the other was in VSTM2L gene. A further comparison between C2-3 patient subgroup and C4-6 subgroup identified another four significant SNPs, which were located in ZNF664-FAM101A, PHF2, ACOT11, and TOM1L1 genes.

Conclusion: Our preliminary result identified six significant SNPs located in six different genes. All of them and their genetic products may warrant further investigations.

Keywords: Clinical-Etiology-Anatomy-Pathophysiology classification; Varicose vein; genome wide association study; single nucleotide polymorphism (SNP).

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Genetic Predisposition to Disease / genetics
  • Genome-Wide Association Study* / methods
  • Homeodomain Proteins / genetics
  • Humans
  • Polymorphism, Single Nucleotide
  • Varicose Veins* / epidemiology
  • Varicose Veins* / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • Homeodomain Proteins
  • PHF2 protein, human
  • TOM1L1 protein, human