STUDY TITLE: Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells
SUMMARY: Discovery of 17 regions of the genome associated with a risk of myeloproliferative neoplasms, a type of blood cancer.
OVERVIEW: Blood cells, including red blood cells, white blood cells, and platelets, are produced in the bone marrow, which is a spongy tissue inside bones. Myeloproliferative neoplasms are a type of blood cancer that occurs when the bone marrow overproduces blood stem cells. Common symptoms of the condition include feelings of weakness, tiredness, headaches, and fever. To identify factors that contribute to a genetic predisposition to this disease, this study examined the genomes of over 1.15 million individuals of European ancestry. The researchers identified 17 variants associated with an increased risk of the condition, including 7 not previously reported. Overall, these variants may explain over 18% of the total genetic risk for developing myeloproliferative neoplasms.
DID YOU KNOW? There are multiple types of myeloproliferative neoplasms, which are categorized by the cells affected. For example, polycythemia vera is characterized by overproduction of red blood cells, while chronic myeloid leukemia is caused by overproduction of white blood cells. [SOURCE]
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STUDY-ASSOCIATED VARIANTS: rs1327494, rs7705526, rs2853677, rs62329718, rs62471615, rs7310615, rs116466979, rs1633768, rs1800057, rs74676712, rs9847631, rs8002412, rs77249081, rs55857134, rs9946154, rs9864772, rs17879961
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WEEKLY UPDATE: October 24, 2020