The functional polymorphisms of LIS1 are associated with acute myeloid leukemia risk in a Han Chinese population

- The variant alleles of LIS1 SNPs could significantly increase the AML risk.
- The associations between LIS1 SNPs and any AML subgroups were homogeneous.
- No significant association existed between AML1/ETO and LIS1 SNPs in M2 AML.
- No significant association existed between PML/RARα and LIS1 SNPs in M3 AML.

There is increasing evidence that the human lissencephaly-1 gene, LIS1, plays an important role in carcinogenesis of several malignancies including leukemia. However, little is known about the relationship between single nucleotide polymorphisms (SNPs) in LIS1 and the susceptibility to myeloid leukemia. In the present study, we systematically screened 5 potentially functional polymorphisms in LIS1, and conducted a case-control study including 660 acute myeloid leukemia (AML) patients and 1034 cancer-free controls in a Chinese population, to assess the association between these SNPs and AML risk. We found that the variant alleles of rs4790348, rs4790353, and rs7209748 could significantly increase the AML risk (rs4790348: adjusted OR = 1.31, 95%CI = 1.13-1.53 in additive model; rs4790353: adjusted OR = 4.97, 95%CI = 1.59-15.50 in recessive model; rs7209748: adjusted OR = 2.34, 95%CI = 1.11-4.94 in recessive model). These findings indicated that genetic variants in LIS1 may contribute to AML risk in Chinese population.