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. 2023 Mar;24(4):199-206.
doi: 10.2217/pgs-2022-0164. Epub 2023 Mar 22.

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

Covida Mootoosamy  1   2 , Maria Kondyli  1 , Sophie Annaelle Serfaty  1   2 , David-Étienne Tremblay  1 , Vincent Gagné  1 , Maïté Ribère  3 , Caroline Laverdière  1   4 , Jean-Marie Leclerc  1   4 , Daniel Sinnett  1   4 , Thai Hoa Tran  1   4 , Maja Krajinovic  1   4   2
Affiliations

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

Covida Mootoosamy et al. Pharmacogenomics. 2023 Mar.

Abstract

Aim: 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 in vitro. Patients & methods: SNPs located in IL16, MYBBP1A, PKD2L1, RIN3 and MPEG1 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. Results: IL16 rs11556218 conferred higher risk of thrombosis and higher in vitro 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. Conclusion: IL16 and factor V Leiden variations are implicated in asparaginase-related thrombosis.

Keywords: FVL; IL16; acute lymphoblastic leukemia; asparaginase; lymphoblastoid cell lines; pharmacogenetics; single nucleotide polymorphism; thrombosis.

Plain language summary

This study looked at how certain genetic variations are related to a higher risk of blood clots in children with a type of cancer called acute lymphoblastic leukemia who are receiving a certain treatment (asparaginase). The study found that one specific genetic variation (IL16 rs11556218) was linked to a higher risk of blood clots (thrombosis), and that this risk was influenced by disease and treatment features. The study also found that a certain genetic variation (factor V Leiden), which makes blood more likely to clot, and blood type (non-O) were linked to a higher risk of thrombosis. The conclusion of this study is that genetic variations may play a role in blood clots in children with acute lymphoblastic leukemia receiving asparaginase, and if further confirmed, these variations can serve to advance personalized treatment strategies.

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