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The following is a summary of “Causal relationship between branched-chain amino acids and leukemia risk: insights from a two-sample Mendelian randomization study,” published in the December 2024 issue of Hematology by Chen et al. 

Branched-chain amino acids (BCAAs), including leucine, isoleucine, and valine, play roles in protein synthesis, metabolism, and immune regulation. Their potential link to leukemia development remains unclear. 

Researchers conducted a retrospective study using Mendelian randomization (MR) to investigate the causal relationship between BCAA levels and four leukemia subtypes: acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), chronic lymphocytic leukemia (CLL), and chronic myeloid leukemia (CML). 

They selected single nucleotide polymorphisms (SNPs) from genome-wide association studies (GWAS) data as instrumental variables (IVs) for BCAA levels and applied the inverse-variance weighted (IVW) method. Heterogeneity and pleiotropy were assessed using Cochran’s Q test and MR-Egger intercept, with sensitivity analyzed through leave-one-out analysis. 

The results showed a significant inverse association between total BCAA levels (odds ratio (OR): 0.16, 95% CI: 0.05–0.54, P=0.003), leucine (OR: 0.17, 95% CI: 0.04–0.61, P=0.007), valine (OR: 0.21, 95% CI: 0.07–0.61, P=0.004), and ALL risk, with no significant associations for AML, CLL, or CML. 

Investigators concluded that BCAAs, particularly leucine and valine, may protect against ALL, offering insights into leukemia regulation and potential therapeutic targets. 

Source: tandfonline.com/doi/full/10.1080/16078454.2024.2433904#abstract