rs1002658 - LINC03004

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma. - Blood (2019) · Sud A, Thomsen H, Orlando G, Försti A, Law PJ, Broderick P, Cooke R, Hariri F, Pastinen T, Easton DF, Pharoah PDP, Dunning AM, Peto J, Canzian F, Eeles R, Kote-Jarai Z, Muir K, Pashayan N, Campa D, Hoffmann P, Nöthen MM, Jöckel KH, von Strandmann EP, Swerdlow AJ, Engert A, Orr N, Hemminki K, Houlston RS · PubMed 30194254

  To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we performed a meta-analysis of 7 genome-wide association studies totaling 5325 HL cases and 22 423 control patients. We identify 5 new HL risk loci at 6p21.31 (rs649775; = 2.11 × 10 ), 6q23.3 (rs1002658; = 2.97 × 10 ), 11q23.1 (rs7111520; = 1.44 × 10 ), 16p11.2 (rs6565176; = 4.00 × 10 ), and 20q13.12 (rs2425752; = 2.01 × 10 ). Integration of gene expression, histone modification, and in situ promoter capture Hi-C data at the 5 new and 13 known risk loci implicates dysfunction of the germinal center reaction, disrupted T-cell differentiation and function, and constitutive NF-κB activation as mechanisms of predisposition. These data provide further insights into the genetic susceptibility and biology

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