Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Leuk Res. 2010 Oct;34(10):1271-4. doi: 10.1016/j.leukres.2010.02.001. Epub 2010 Feb 26.
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 (P(dominant)<or=0.0001 and P(trend)<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.
我们在韩国进行了一项病例对照研究，对儿童急性淋巴细胞白血病（ALL）进行了全基因组关联研究。2003 年至 2008 年间，我们在首尔的三家教学医院招募了 50 名新发儿童 ALL 病例和 50 名非癌症对照，通过年龄和性别与病例相匹配，并使用 Affymetrix SNP Array 6.0 平台进行基因分型。ALL 风险估计为比值比（OR）和 95%置信区间（CI），并根据年龄和出生体重进行调整。采用错误发现率（FDR）调整多重检验。在这 100 万个 SNP 中，4 个基因中的 6 个 SNP（HAO1 rs6140264、EPB41L2 rs9388856、rs9388857、rs1360756、C2orf3 12105972、MAN2A1 rs3776932）与儿童 ALL 风险强烈相关（P（显性）<0.0001 和 P（趋势）<0.006）。经过 FDR 调整后，这些 SNP 仍然具有统计学意义（FDR 值<0.2）。我们在韩国儿童中的全基因组关联研究确定了一些遗传变异作为 ALL 的潜在易感标志物，值得在不同种族群体中进一步进行复制研究。
