Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
Leuk Lymphoma. 2010 Oct;51(10):1870-4. doi: 10.3109/10428194.2010.511356.
Recent genome-wide association (GWA) studies of childhood acute lymphoblastic leukemia (ALL) have identified 7p12.2, 9p21.3, 10q21.2, and 14q11.2 SNPs that confer modest risks of ALL. These studies have been conducted in European populations, and it is unclear whether these observations generalize to other populations with a lower incidence of ALL. To explore the impact of these variants on ALL risk in the Thai population, we genotyped 190 cases of ALL and 182 controls for SNPs rs4132601 (7p12.2), rs3731217 (9p21.3), rs7089424 and rs10821938 (10q21.2), and rs2239633 (14q11.2). Consistent with findings in European populations, rs4132601 genotype was significantly associated with risk of ALL (odds ratio [OR] = 1.57, 95% confidence interval [CI]: 1.01-2.44; p = 0.04), and rs10821938 genotype was significantly associated with B-cell precursor ALL (OR = 0.73, 95% CI: 0.55-0.97; p = 0.03). There were, however, differences in allele frequencies in SNPs observed between Thai and Caucasian populations (e.g. IKZF1, rs4132601; risk allele frequency [RAF] ratio of 0.36 for Thai/Caucasian). These differences, combined with differences in linkage disequilibrium structure between populations or differences in effect size between populations, may contribute to racial differences in ALL incidence.
最近的儿童急性淋巴细胞白血病(ALL)全基因组关联(GWA)研究已经确定了 7p12.2、9p21.3、10q21.2 和 14q11.2 上的 SNP,这些 SNP 赋予了 ALL 适度的风险。这些研究是在欧洲人群中进行的,目前尚不清楚这些观察结果是否适用于 ALL 发病率较低的其他人群。为了探讨这些变体对泰国人群 ALL 风险的影响,我们对 190 例 ALL 病例和 182 例对照进行了 rs4132601(7p12.2)、rs3731217(9p21.3)、rs7089424 和 rs10821938(10q21.2)以及 rs2239633(14q11.2)的 SNP 基因分型。与欧洲人群的研究结果一致,rs4132601 基因型与 ALL 风险显著相关(比值比[OR] = 1.57,95%置信区间[CI]:1.01-2.44;p = 0.04),rs10821938 基因型与 B 细胞前体 ALL 显著相关(OR = 0.73,95%CI:0.55-0.97;p = 0.03)。然而,在泰国和高加索人群中观察到的 SNP 的等位基因频率存在差异(例如,IKZF1,rs4132601;泰国/高加索风险等位基因频率[RAF]比值为 0.36)。这些差异,加上人群之间连锁不平衡结构的差异或人群之间效应大小的差异,可能导致 ALL 发病率的种族差异。