rs1209987 - RNU6-214P - RNA5SP215

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci. - British journal of haematology (2023) · Earley EJ, Kelly S, Fang F, Alencar CS, Rodrigues DOW, Soares Cruz DT, Flanagan JM, Ware RE, Zhang X, Gordeuk V, Gladwin M, Zhang Y, Nouraie M, Nekhai S, Sabino E, Custer B, Dinardo C, Page GP · PubMed 36602125

  Ischaemic stroke is a common complication of sickle cell disease (SCD) and without intervention can affect 11% of children with SCD before the age of 20. Within the Trans-Omics for Precision Medicine (TOPMed), a genome-wide association study (GWAS) of ischaemic stroke was performed on 1333 individuals with SCD from Brazil (178 cases, 1155 controls). Via a novel Cox proportional-hazards analysis, we searched for variants associated with ischaemic stroke occurring at younger ages. Variants at genome-wide significance (p < 5 × 10 ) include two near genes previously linked to non-SCD early-onset stroke (<65 years): ADAMTS2 (rs147625068, p = 3.70 × 10 ) and CDK18 (rs12144136, p = 2.38 × 10 ). Meta-analysis, which included the independent SCD cohorts Walk-PHaSST and PUSH

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