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The dataset contains summary statistics for the discovery and the replication stages of the large-scale genome-wide associations study for varicose veins of lower extremities. The discovery stage was based on genetic association data provided by the Neale Lab (http://www.nealelab.is/) for 337,199 UK biobank individuals. Phenotype “varicose veins of lower extremities” was defined based on International Classification of Disease (ICD-10) billing code “I83” present in the electronic patient record. Data were adjusted for two potential confounders – body mass index and deep venous thrombosis. A replication cohort (N=71,256) was generated by means of reverse meta-analysis of two overlapping datasets: genetic association data for 408,455 UK Biobank participants provided by the Gene ATLAS database (http://geneatlas.roslin.ed.ac.uk/), and the above mentioned data provided by the Neale Lab. Please, note, that in Shadrina et al (PLOS Genetics 2019) we only used "discovery" dataset, while in biorxiv preprint (https://doi.org/10.1101/368365) both discovery and replication datasets were used. The data are provided on an "AS-IS" basis, without warranty of any type, expressed or implied, including but not limited to any warranty as to their performance, merchantability, or fitness for any particular purpose. If investigators use these data, any and all consequences are entirely their responsibility. By downloading and using these data, you agree that you will cite the appropriate publication in any communications or publications arising directly or indirectly from these data; for utilisation of data available prior to publication, you agree to respect the requested responsibilities of resource users under 2003 Fort Lauderdale principles; you agree that you will never attempt to identify any participant. When using downloaded data, please cite corresponding paper and this repository: Shadrina, A. S., Sharapov, S. Z., Shashkova, T. I. & Tsepilov, Y. A. Varicose veins of lower extremities: Insights from the first large-scale genetic study. PLOS Genet. 15, e1008110 (2019). Alexandra S. Shadrina, Sodbo Zh. Sharapov, Tatiana I. Shashkova, & Yakov A. Tsepilov. (2018). Genome-wide association summary statistics for varicose veins of lower extremities (Version 1) [Data set]. Zenodo. http://doi.org/10.5281/zenodo.1323484 Funding: The work of ASS was supported by the Russian Science Foundation [Project No 17-75-20223]. The work of YAT was supported by the Russian Ministry of Science and Education under the 5-100 Excellence Programme. The work of SZS was supported by the Institute of Cytology and Genetics [Project No 0324-2018-0017]. Column headers - discovery SNP: SNP rsID b: effect size of effect allele se: standard error of effect size chi2: T^2 value of effect allele Pval: P-value of association (without GC correction) N: sample size Chr: chromosome Pos: position (GRCh37 build) A1: effect allele (coded as "1") A2: reference allele (coded as "0") Column headers - replication SNP: SNP rsID A1: effect allele (coded as "1") A2: reference allele (coded as "0") N: Total sample size Z: Z-value of effect allele P: P-value of association (without GC correction)
{"references": ["https://doi.org/10.1371/journal.pgen.1008110", "https://doi.org/10.1101/368365"]}
varicose veins of lower extremities, genetics, gwas, varicose
varicose veins of lower extremities, genetics, gwas, varicose
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