The functional polymorphisms of ARID5B and IKZF1 are associated with acute myeloid leukemia risk in a Han Chinese population.

Since two genome-wide association studies identified the same susceptible region at ARID5B and IKZF1 for acute leukemia in Caucasians in the same time, several research groups have confirmed the similar results in different ethnicities and of different acute leukemia subtypes (ALL and AML). However, the causal variants of these two genes were not identified. In this study, we systematically screened 6 potentially functional SNPs in ARID5B and IKZF1 genes, and conducted a case-control study including 660 AML cases and 1034 cancer-free controls to investigate the associations between these SNPs and AML risk. We found that the variant alleles of rs4509706 and rs11761922 could significantly increase the risk of AML (rs4509706: OR=1.35, 95%CI=1.12–1.62 in additive model; rs11761922: OR=1.29, 95%CI=1.02–1.62 in recessive model). Luciferase reporter assay showed that both rs11761922-G and rs4509706-C significantly increased the luciferase levels as compared with rs11761922-C and rs4509706-T in K562 cells (P<0.05 for rs11761922 and P<0.001 for rs4509706). Our results indicated that rs4509706 and rs11761922 may play important roles in AML development in Chinese population.