一项霍奇金淋巴瘤的全基因组关联研究鉴定出 2p16.1（REL）、8q24.21 和 10p14（GATA3）处的新易感性位点。
A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).
机构信息
Section of Cancer Genetics, Institute of Cancer Research, Sutton, SM2 5NG, UK.
Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G61 1QH, UK.
出版信息
Nat Genet. 2010 Dec;42(12):1126-1130. doi: 10.1038/ng.696. Epub 2010 Oct 31.
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.
为了鉴定经典霍奇金淋巴瘤（cHL）的易感基因座，我们对 589 名 cHL 患者（病例）和 5199 名对照者进行了全基因组关联研究，在四个独立样本中进行了验证，共包括 2057 名病例和 3416 名对照者。我们在 2p16.1 上鉴定到三个新的易感基因座（rs1432295，REL，比值比（OR）=1.22，联合 P=1.91×10(-8)）、8q24.21（rs2019960，PVT1，OR=1.33，联合 P=1.26×10(-13)）和 10p14（rs501764，GATA3，OR=1.25，联合 P=7.05×10(-8)）。此外，我们通过揭示强人类白细胞抗原（HLA）相关性（rs6903608，OR=1.70，联合 P=2.84×10(-50)），证实了主要组织相容性复合体在疾病病因学中的作用。这些数据为 cHL 的发病机制提供了新的见解。
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