Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.
Division of Molecular Genetic Epidemiology, German Cancer Research Centre, 69120, Heidelberg, Germany.
Nat Commun. 2018 Apr 9;9(1):1340. doi: 10.1038/s41467-018-03178-z.
Genome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL); however, much of the heritable risk remains unidentified. Here, we perform a GWAS and conduct a meta-analysis with two existing GWAS, totaling 2442 cases and 14,609 controls. We identify risk loci for BCP-ALL at 8q24.21 (rs28665337, P = 3.86 × 10, odds ratio (OR) = 1.34) and for ETV6-RUNX1 fusion-positive BCP-ALL at 2q22.3 (rs17481869, P = 3.20 × 10, OR = 2.14). Our findings provide further insights into genetic susceptibility to ALL and its biology.
全基因组关联研究（GWAS）已经提高了我们对 B 细胞前体急性淋巴细胞白血病（BCP-ALL）易感性的理解；然而，大部分可遗传风险仍然未知。在这里，我们进行了 GWAS 并进行了两项现有 GWAS 的荟萃分析，共包括 2442 例病例和 14609 例对照。我们在 8q24.21 （rs28665337，P=3.86×10，优势比（OR）=1.34）和 2q22.3 （rs17481869，P=3.20×10，OR=2.14）处鉴定出 BCP-ALL 的风险位点和 ETV6-RUNX1 融合阳性 BCP-ALL 的风险位点。我们的研究结果进一步深入了解 ALL 的遗传易感性及其生物学特性。
