A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

Abstract

We conducted a genome-wide association study of 299,983 tagging SNPs for chronic lymphocytic leukemia (CLL) and performed validation in two additional series totaling 1,529 cases and 3,115 controls. We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 × 10 -10), 2q37.1 (rs13397985, SP140; P = 5.40 × 10-10), 6p25.3 (rs872071, IRF4; P = 1.91 × 10-20), 11q24.1 (rs735665; P = 3.78 × 10-12), 15q23 (rs7176508; P = 4.54 × 10 -12) and 19q13.32 (rs11083846, PRKD2; P = 3.96 × 10 -9). These data provide the first evidence for the existence of common, low-penetrance susceptibility to a hematological malignancy and new insights into disease causation in CLL.