A genome-wide association study for varicose veins

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.