rs12339666 - JAK2
Magnitude 2.8 · 1 study on file
Reported associations
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Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms - Unknown journal (n.d.) · Unknown authors · PubMed 25849990
ABSTRACT: Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized. Using a three-stage genome-wide association study of 3,437 MPN cases and 10,083 controls, we identify two SNPs with genome-wide significance in JAK2V617F-negative MPN: rs12339666 (JAK2; meta-analysis P=1.27 × 10−10) and rs2201862 (MECOM; meta-analysis P=1.96 × 10−9). Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2V617F-positive cases. rs9376092 has a stronger effect in JAK2V617F-negative cases with CALR and/or MPL mutations (Breslow-Day P=4.5 × 10−7), whereas in JAK2V617F-positive cases rs9376092 associates with essential th
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Myeloproliferative disease risk and family history High
Germline JAK2 predisposition variants cluster in families; medical awareness enables targeted symptom screening and risk stratification
Review family history for polycythemia vera, essential thrombocythemia, myelofibrosis, or unexplained clotting disorders
Screening
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Blood counts for myeloproliferative neoplasm surveillance High
rs12339666 tags the JAK2 46/1 haplotype and strongly predisposes to myeloproliferative neoplasms; periodic monitoring detects early clonal expansion
Annual complete blood count; baseline hematology evaluation if not previously assessed