rs10989523 - TMEM246-AS1

Magnitude 2.8 · 1 study on file

Reported associations

• Clonal myelopoiesis in the UK Biobank cohort: ASXL1 mutations are strongly associated with smoking. - Leukemia (2020) · Dawoud AAZ, Tapper WJ, Cross NCP · PubMed 32518416

  We sought to determine the significance of myeloid clonal hematopoiesis (CH) in the UK Biobank cohort (n = 502,524, median age = 58 years). Utilizing SNP array (n = 486,941) and whole exome sequencing data (n = 49,956), we identified 1166 participants with myeloid CH, defined by myeloid-associated mosaic chromosome abnormalities (mCA) and/or likely somatic driver mutations in DNMT3A, TET2, ASXL1, JAK2, SRSF2, or PPM1D. Myeloid CH increased by 1.1-fold per annum (myeloid mCA, P = 1.57 × 10 ; driver mutations, P = 5.89 × 10 ). Genome-wide association analysis identified two distinct signals within TERT that predisposed to myeloid CH, plus a weaker signal corresponding to the JAK2 46/1 haplotype. Specific subtypes of myeloid CH were associated with several bl

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