Varicose veins of lower extremities: insights from the first large-scale genetic study

作者: Alexandra S. Shadrina , Sodbo Z. Sharapov , Tatiana I. Shashkova , Yakov A. Tsepilov

DOI: 10.1101/368365

关键词:

摘要: 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 performed on freely available genetic data 408,455 European-ancestry individuals. We identified 7 reliably associated loci that explain 10% SNP-based heritability, and prioritized most likely causal genes CASZ1, PPP3R1, EBF1, STIM2, HFE. correlation analysis confirmed known epidemiological associations found overlap with various traits including fluid intelligence score, educational attainment, smoking, pain. Finally, observed effects height, weight, both fat fat-free mass, plasma levels MICB CD209 proteins.

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