Key result
A large-scale genome-wide association study of 408,455 individuals identified 7 genetic loci reliably associated with varicose veins that explain 10% of the SNP-based heritability.
Observational (n=408,455)
This large-scale GWAS identified 7 genetic loci associated with varicose veins, highlighting genes involved in vascular development and providing new insights into the disease's pathogenesis.
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No immediate clinical utility; leaves open whether identified loci inform varicose vein risk or therapy.
Varicose veins of lower extremities (VVs) are a common multifactorial vascular disease. Genetic factors underlying VVs development remain largely unknown. Here we report the first large-scale study of VVs performed on a freely available genetic data of 408,455 European-ancestry individuals. We identified 7 reliably associated loci that explain 10% of the SNP-based heritability, and prioritized the most likely causal genes CASZ1, PPP3R1, EBF1, STIM2 , and HFE . Genetic correlation analysis confirmed known epidemiological associations and found genetic overlap with various traits including fluid intelligence score, educational attainment, smoking, and pain. Finally, we observed causal effects of height, weight, both fat and fat-free mass, and plasma levels of MICB and CD209 proteins.
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Shadrina et al. (2018) conducted an observational in Varicose veins of lower extremities (n=408,455). Genetic variants (SNPs) vs. Reference alleles was evaluated on Genetic loci associated with varicose veins risk (p=<5.0e-08). A large-scale genome-wide association study of 408,455 individuals identified 7 genetic loci reliably associated with varicose veins that explain 10% of the SNP-based heritability.
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