rs114209171 - FUNDC2

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis. - Human molecular genetics (2017) · Hinds DA, Buil A, Ziemek D, Martinez-Perez A, Malik R, Folkersen L, Germain M, Mälarstig A, Brown A, Soria JM, Dichgans M, Bing N, Franco-Cereceda A, Souto JC, Dermitzakis ET, Hamsten A, Worrall BB, Tung JY, Sabater-Lleal M · PubMed 26908601

  Thrombotic diseases are among the leading causes of morbidity and mortality in the world. To add insights into the genetic regulation of thrombotic disease, we conducted a genome-wide association study (GWAS) of 6135 self-reported blood clots events and 252 827 controls of European ancestry belonging to the 23andMe cohort of research participants. Eight loci exceeded genome-wide significance. Among the genome-wide significant results, our study replicated previously known venous thromboembolism (VTE) loci near the F5, FGA-FGG, F11, F2, PROCR and ABO genes, and the more recently discovered locus near SLC44A2 In addition, our study reports for the first time a genome-wide significant association between rs114209171, located upstream of the F8 structural gene, and thrombosis risk. Analyses of

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