IL16 and factor V gene variations are associated with asparaginase-related thrombosis in childhood acute lymphoblastic leukemia patients.

Pharmacogenomics(2023)

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摘要
We previously conducted exome-wide association study in acute lymphoblastic leukemia patients and identified association of five SNPs with asparaginase-related thrombosis. Here we aimed to replicate these findings in an independent patient cohort and through analyses . SNPs located in , , , and genes were analyzed in patients receiving Dana-Farber Cancer Institute acute lymphoblastic leukemia treatment protocols 05-001 and 11-001. Thrombophilia-related variations were also analysed. rs11556218 conferred higher risk of thrombosis and higher sensitivity to asparaginase. The association was modulated by the treatment protocol, risk group and immunophenotype. A crosstalk between factor V Leiden, non-O blood groups and higher risk of thrombosis was also seen. and factor V Leiden variations are implicated in asparaginase-related thrombosis.
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关键词
FVL,IL16,acute lymphoblastic leukemia,asparaginase,lymphoblastoid cell lines,pharmacogenetics,single nucleotide polymorphism,thrombosis
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