Replication analysis confirms the association of several variants with acute myeloid leukemia in Chinese population.

Purpose: Two genome-wide association studies (GWASs) have identified several new acute leukemia susceptibility loci in populations of European descent. However, the roles of these loci in the development of acute leukemia in other populations are largely unknown.

Methods: We genotyped 16 single-nucleotide polymorphisms selected from published GWASs in an independent case-control study with a total of 545 acute myeloid leukemia (AML) cases and 1034 cancer-free controls in a Chinese population. Multivariate logistic regression was used to analyze the associations between these variants and AML risk.

Results: We found that with the similar effect to GWASs, risk alleles of rs2191566, rs9290663, rs11155133, rs2239633, rs10821936, and rs2242041 significantly increased the risk of AML in at least one genetic model [odds ratios (ORs) range from 1.26 to 4.34, P values range from <0.001 to 0.043]. However, the variant T allele of rs10873876 decreased the AML risk, which was in the opposite effect direction (OR 0.62, P < 0.001 in additive model). Besides, we found significant multiplicative interaction between rs9290663 and age (≤45 years old and >45 years old; P = 0.009).

Conclusion: Our results indicated that genetic variants associated with acute leukemia risk in European populations may also play important roles in AML development in Chinese population.