Genome-wide association study of childhood acute lymphoblastic leukemia in Korea

We conducted a genome-wide association study of childhood acute lymphoblastic leukemia (ALL) in a case-control study conducted in Korea. Incident childhood ALL cases (n = 50) and non-cancer controls (n = 50) frequency-matched to cases by age and sex, recruited from three teaching hospitals in Seoul between 2003 and 2008, were genotyped using Affymetrix SNP Array 6.0 platform. ALL risks were estimated as odds ratios (ORs) and 95% confidence intervals (CIs) adjusted for age and birth weight. The false discovery rate (FDR) was used for adjusting multiple tests. Of these 1 million SNPs, six SNPs in 4 genes (HAO1 rs6140264, EPB41L2 rs9388856, rs9388857, rs1360756, C2orf3 12105972, MAN2A1 rs3776932) were strongly associated with childhood ALL risk (Pdominant ≤ 0.0001 and Ptrend < 0.006). These SNPs remained significant after FDR adjustment (FDR value <0.2). Our genome-wide association study in Korea children identified a few genetic variations as potential susceptibility markers for ALL, warranting further replication studies among various ethnic groups.