rs11131764 - VEGFC - LINC02509

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis. - American journal of human genetics (2021) · Galatà G, García-Montero AC, Kristensen T, Dawoud AAZ, Muñoz-González JI, Meggendorfer M, Guglielmelli P, Hoade Y, Alvarez-Twose I, Gieger C, Strauch K, Ferrucci L, Tanaka T, Bandinelli S, Schnurr TM, Haferlach T, Broesby-Olsen S, Vestergaard H, Møller MB, Bindslev-Jensen C, Vannucchi AM, Orfao A, Radia D, Reiter A, Chase AJ, Cross NCP, Tapper WJ · PubMed 33421400

  Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzing 1,035 individuals with KIT D816V positive disease and 17,960 healthy control individuals from five European populations. After quality control, we tested 592,007 SNPs at stage 1 and 75 SNPs at stage 2 for association by using logistic regression and performed a fixed effects meta-analysis to combine evidence across the two stages. From the meta-analysis, we identified three intergenic SNPs associated with mastocytosis that achieved genome-wide significance without heterogen

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