Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

摘要: Thrombotic diseases are among the leading causes of morbidity and mortality in world. To add insights into genetic regulation thrombotic disease, we conducted a genome-wide association study (GWAS) 6135 self-reported blood clots events 252 827 controls European ancestry belonging to 23andMe cohort research participants. Eight loci exceeded significance. Among significant results, our replicated previously known venous thromboembolism (VTE) near F5, FGA-FGG, F11, F2, PROCR ABO genes, more recently discovered locus SLC44A2 In addition, reports for first time between rs114209171, located upstream F8 structural gene, thrombosis risk. Analyses expression profiles quantitative trait across different tissues suggested SLC44A2, ILF3 AP1M2 as three most plausible candidate genes chromosome 19 locus, only thrombosis-related that does not harbor likely coagulation-related genes. present data showing this also acts novel risk factor stroke coronary artery disease (CAD). conclusion, reveals common factors VTE, CAD provides evidence on used GWAS yield results comparable with those obtained using clinically diagnosed VTE. This observation opens up potential larger meta-analyses, which will enable elucidation genetics diseases, serves an example other diseases.