rs1206818 - EYA2

Magnitude 2.8 · 1 study on file

Reported associations

• Non-del(5q) myelodysplastic syndromes-associated loci detected by SNP-array genome-wide association meta-analysis. - Blood advances (2020) · McGraw KL, Cheng CH, Chen YA, Hou HA, Nilsson B, Genovese G, Cluzeau T, Pellagatti A, Przychodzen BP, Mallo M, Arenillas L, Mohamedali A, Adès L, Sallman DA, Padron E, Sokol L, Moreilhon C, Raynaud S, Tien HF, Boultwood J, Ebert BL, Sole F, Fenaux P, Mufti GJ, Maciejewski JP, Kanetsky PA, List AF · PubMed 31738830

  Myelodysplastic syndromes (MDS) are hematopoietic stem cell malignancies. Known predisposing factors to adult MDS include rare germline mutations, cytotoxic therapy, age-related clonal hematopoiesis, and autoimmune or chronic inflammatory disorders. To date, no published studies characterizing MDS-associated germline susceptibility polymorphisms exist. We performed a genome-wide association study of 2 sample sets (555 MDS cases vs 2964 control subjects; 352 MDS cases vs 2640 control subjects) in non-del(5q) MDS cases of European genomic ancestry. Meta-analysis identified 8 MDS-associated loci at 1q31.1 (PLA2G4A), 3p14.1 (FAM19A4), 5q21.3 (EFNA5), 6p21.33, 10q23.1 (GRID1), 12q24.32, 15q26.1, and 20q13.12 (EYA2) that approached genome-wide significance. Gene expression for 5 loci that mapped

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