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

Abstract 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.