A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3)

霍奇金淋巴瘤的全基因组关联研究确定了 2p16.1 (REL)、8q24.21 和 10p14 (GATA3) 的新易感位点

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作者:Victor Enciso-Mora #, Peter Broderick #, Yussanne Ma #, Ruth F Jarrett, Henrik Hjalgrim, Kari Hemminki, Anke van den Berg, Bianca Olver, Amy Lloyd, Sara E Dobbins, Tracy Lightfoot, Flora E van Leeuwen, Asta Försti, Arjan Diepstra, Annegien Broeks, Jayaram Vijayakrishnan, Lesley Shield, Annette Lake,

Abstract

To identify susceptibility loci for classical Hodgkin's lymphoma (cHL), we conducted a genome-wide association study of 589 individuals with cHL (cases) and 5,199 controls with validation in four independent samples totaling 2,057 cases and 3,416 controls. We identified three new susceptibility loci at 2p16.1 (rs1432295, REL, odds ratio (OR) = 1.22, combined P = 1.91 × 10(-8)), 8q24.21 (rs2019960, PVT1, OR = 1.33, combined P = 1.26 × 10(-13)) and 10p14 (rs501764, GATA3, OR = 1.25, combined P = 7.05 × 10(-8)). Furthermore, we confirmed the role of the major histocompatibility complex in disease etiology by revealing a strong human leukocyte antigen (HLA) association (rs6903608, OR = 1.70, combined P = 2.84 × 10(-50)). These data provide new insight into the pathogenesis of cHL.

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